[Senate Hearing 113-267]
[From the U.S. Government Printing Office]


                                                        S. Hrg. 113-267
 
  NEWBORN SCREENING SAVES LIVES: THE PAST, PRESENT, AND FUTURE OF THE 
                        NEWBORN SCREENING SYSTEM 

=======================================================================

                                HEARING

                               BEFORE THE

                 SUBCOMMITTEE ON CHILDREN AND FAMILIES

                                 OF THE

                    COMMITTEE ON HEALTH, EDUCATION,
                          LABOR, AND PENSIONS

                          UNITED STATES SENATE

                    ONE HUNDRED THIRTEENTH CONGRESS

                             FIRST SESSION

                                   ON

  EXAMINING HOW NEWBORN SCREENING SAVES LIVES, FOCUSING ON THE PAST, 
          PRESENT, AND FUTURE OF THE NEWBORN SCREENING SYSTEM

                               __________

                           SEPTEMBER 26, 2013

                               __________

 Printed for the use of the Committee on Health, Education, Labor, and 
                                Pensions

      Available via the World Wide Web: http://www.gpo.gov/fdsys/

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          COMMITTEE ON HEALTH, EDUCATION, LABOR, AND PENSIONS

                       TOM HARKIN, Iowa, Chairman

BARBARA A. MIKULSKI, Maryland              LAMAR ALEXANDER, Tennessee
PATTY MURRAY, Washington                   MICHAEL B. ENZI, Wyoming
BERNARD SANDERS (I), Vermont               RICHARD BURR, North Carolina
ROBERT P. CASEY, JR., Pennsylvania         JOHNNY ISAKSON, Georgia
KAY R. HAGAN, North Carolina               RAND PAUL, Kentucky
AL FRANKEN, Minnesota                      ORRIN G. HATCH, Utah
MICHAEL F. BENNET, Colorado                PAT ROBERTS, Kansas
SHELDON WHITEHOUSE, Rhode Island           LISA MURKOWSKI, Alaska
TAMMY BALDWIN, Wisconsin                   MARK KIRK, Illinois
CHRISTOPHER S. MURPHY, Connecticut         TIM SCOTT, South Carolina
ELIZABETH WARREN, Massachusetts
                                       

             Pamela J. Smith, Staff Director, Chief Counsel

                 Lauren McFerran, Deputy Staff Director

               David P. Cleary, Republican Staff Director

                                 ______

                 Subcommittee on Children and Families

                 KAY R. HAGAN, North Carolina, Chairman

BARBARA A. MIKULSKI, Maryland        MICHAEL B. ENZI, Wyoming
PATTY MURRAY, Washington             MARK KIRK, Illinois
BERNARD SANDERS (I), Vermont         RICHARD BURR, North Carolina
ROBERT P. CASEY, JR., Pennsylvania   JOHNNY ISAKSON, Georgia
AL FRANKEN, Minnesota                RAND PAUL, Kentucky
MICHAEL BENNET, Colorado             ORRIN G. HATCH, Utah
CHRISTOPHER S. MURPHY, Connecticut   PAT ROBERTS, Kansas
ELIZABETH WARREN, Massachusetts      LAMAR ALEXANDER, Tennessee (ex 
TOM HARKIN, Iowa (ex officio)        officio)

                    Josh Teitelbaum, Staff Director

                                  (ii)



                            C O N T E N T S

                               __________

                               STATEMENTS

                      THURSDAY, SEPTEMBER 26, 2013

                                                                   Page

                           Committee Members

Hagan, Hon. Kay R., Chairman, Subcommittee on Children and 
  Families, opening statement....................................     1
Enzi, Hon. Michael B., a U.S. Senator from the State of Wyoming, 
  opening statement..............................................     3
Casey, Hon. Robert P., Jr., a U.S. Senator from the State of 
  Pennsylvania...................................................    23
    Prepared statement...........................................    25

                               Witnesses

Bonhomme, Natasha, Director, Baby's First Test, Washington, DC...     4
    Prepared statement...........................................     5
Howell, R. Rodney, M.D., Professor of Pediatrics, University of 
  Miami School of Medicine, Miami, FL............................     8
    Prepared statement...........................................     9
Howse, Jennifer L., Ph.D., President, March of Dimes, Washington, 
  DC.............................................................    12
    Prepared statement...........................................    14
Mullis, Joye, Raleigh, NC........................................    17
    Prepared statement...........................................    18

                          ADDITIONAL MATERIAL

Statements, articles, publications, letters, etc.:
    Marcia Boyle, President and Founder, Immune Deficiency 
      Foundation.................................................    38
    Response to questions of Senator Warren by:
        Natasha Bonhomme.........................................    39
        R. Rodney Howell, M.D....................................    40
        Jennifer L. Howse, Ph.D..................................    41

                                 (iii)

  


  NEWBORN SCREENING SAVES LIVES: THE PAST, PRESENT, AND FUTURE OF THE 
                        NEWBORN SCREENING SYSTEM

                              ----------                              


                      THURSDAY, SEPTEMBER 26, 2013

                                       U.S. Senate,
                     Subcommittee on Children and Families,
       Committee on Health, Education, Labor, and Pensions,
                                                    Washington, DC.
    The subcommittee met, pursuant to notice, at 10:03 a.m. in 
Room SD-430, Dirksen Senate Office Building, Hon. Kay Hagan, 
chairman of the subcommittee, presiding.
    Present: Senators Hagan, Casey, and Enzi

                   Opening Statement of Senator Hagan

    Senator Hagan. I want to welcome everyone to this morning's 
hearing in the HELP committee's subcommittee on Children and 
Families.
    I want to thank all of our witnesses. Thank you for being 
here today, thank you for your work, and thanks for taking the 
time to come from all across the country. I really look forward 
to hearing your testimony.
    I want to especially thank our Ranking Member, Senator 
Enzi, for his work and for his staff's work on this hearing. I 
am sincerely looking forward to working with my colleague to 
move the reauthorization of the Newborn Screening Saves Lives 
Act throughout the Senate this Congress, and I am proud to have 
you as a cosponsor of this bipartisan bill. Thank you, Senator 
Enzi.
    This morning, we are here to discuss the past, the present, 
and the future of the newborn screening system in the United 
States. I sit not just as chairman of this subcommittee, but as 
a chair mom, because as a mother of three, I know from personal 
experience that when you have a child, your first hope and 
prayer is that your child is healthy. ``Let our child be 
healthy,'' every family says. That is the one thing that every 
parent is praying for.
    And thanks to advances to medical technology, the vision of 
medical professionals, and the daily work of nurses, doctors, 
and lab technicians, we now have the ability to detect and to 
treat dozens of life threatening conditions before they are 
able to cause serious harm. But it was not always this way.
    Our system has developed over the course of decades. In 
fact, this month, we recognize the 50th anniversary of newborn 
screening. In 1963, Massachusetts, Delaware, and Oregon became 
the first States in the Nation to mandate universal newborn 
screening, and the first condition that we screened for was 
PKU.
    About 1 baby in 19,000 is born with PKU in the United 
States every year. These babies appear normal for the first few 
months of life, but unprocessed proteins will build up in their 
bloodstream and cause developmental delays if no action is 
taken. Thanks to the dried blood spot test that Dr. Guthrie 
developed so many years ago--and that we still use today--
babies can avoid that fate with simple changes to their diet; 
just amazing.
    Later, screens were developed for new conditions like 
sickle cell disease and cystic fibrosis, and new technology, 
like tandem mass spectrometry and DNA extraction, drastically 
expanded our ability to quickly and accurately screen newborns 
for many more conditions with shorter waiting times for 
results. These advantages are lifesaving, but only for those 
who lived in the States where they were actually implemented.
    Some States lagged behind others in adopting new methods 
and technologies. As a result, a baby born with a condition 
that is inherited might receive the proper treatment in one 
State, but go undetected in another.
    In fact, in this very room, 11 years ago in the last 
hearing that the Senate held on newborn screening 11 years ago, 
Senator Chris Dodd, who was then the chairman of this 
subcommittee said, ``There is an enormous disparity in the 
newborn screening between the various States in our country. 
Only two States,'' at that time, ``Only two States will test 
for all 30 disorders. The vast majority test for 8 or fewer.'' 
That was 11 years ago.
    The situation cried out for Federal leadership. Thanks to 
the work of Dr. Rodney Howell--who was the first chairman of 
the Secretary's Advisory Committee on Heritable Disorders--Dr. 
Howell is with us today, and I am so pleased. I thank you for 
your work over so many years. In addition, thanks to the work 
of the American College of Medical Genetics, the March of 
Dimes, the Department of Health and Human Services, and many 
others, a consensus document was developed that recommended to 
the States which conditions to screen for.
    Congress also recognized the problem and passed the Newborn 
Screening Saves Lives Act of 2008, which cemented the role of 
the advisory committee in reviewing new conditions, and 
established Federal support for educating parents, researching 
new screening technologies, and ensuring the validity of 
existing screening tests. Today, all the States in the United 
States screen for at least 27 out of 31 recommended conditions. 
This is a dramatic improvement and a triumph for the American 
people.
    In 2011, the CDC recognized the advances in newborn 
screening as 1 of the 10 great public achievements in the 
United States for the decade 2001 to 2010. I think that is 
something that we, in America, have to really be proud of.
    That is why I am proud to take the lead with Senator Hatch 
on this reauthorization in building on the progress we have 
made so far by reauthorizing the Newborn Screening Saves Lives 
Act. Our bipartisan bill, of which Senator Enzi is a sponsor, 
focuses on: ensuring followup care for all newborns, expanding 
research on the long-term health impacts of newborn screening, 
establishing time-
lines for the review of new conditions to recommended States 
for screening, and continuing NIH research aimed at identifying 
new treatments for conditions that can be detected through 
newborn screening, and developing new screening technologies.
    I look forward to working with the cosponsors of this 
bill--Senator Hatch, Senator Casey, Senator Enzi, and hopefully 
many others--to pass this bill this Congress. Simply put, 
newborn screening saves lives.
    To tell us how this system works from a variety of 
perspectives, we have a great panel of witnesses today. I ask 
each of our witnesses to keep your opening statements to less 
than 5 minutes, and I thank you for your written statements, 
which have been submitted for the record.
    I now want to turn to my colleague, Senator Enzi, for his 
opening remarks.

                   Opening Statement of Senator Enzi

    Senator Enzi. Well, thank you, Chairman Hagan. I appreciate 
the great work of you, and Senator Hatch, in coming up with 
this bill, and the history that you just covered. It is very 
helpful.
    I appreciate the witnesses who have taken valuable time out 
of their time to help educate us. And the record will 
definitely do that with all of the Senators so that hopefully 
we can get this brought up before the full committee, get it 
onto the floor, and get it taken care of.
    I have said before, and I think it is even truer today, 
that we need to spend more time listening to the thoughts and 
ideas of our constituents rather than presuming that we, here 
in Washington, have all the answers.
    Screening every new baby for these serious health 
conditions--many of which would be otherwise undetectable for 
months or even years--is an important public health priority 
for States and the Federal Government. I think Mrs. Mullis' 
testimony will underscore just how meaningful these screenings 
programs are for the children and families whose lives are 
affected by these terrible health problems.
    Therefore, I am particularly pleased to see that Chairman 
Hagan's bill improves the process for Health and Human 
Services, and the advisory committee, to review the evidence on 
potential new screening tests, and places a priority on 
screening for conditions where new treatments or therapies 
might already be in the works. We must continue to support 
medical and scientific innovation along with basic research if 
there is to be hope that we can further improve the lives of 
babies and children afflicted with these conditions.
    Again, I look forward to hearing from all of the witnesses 
about the significant health benefits that newborn screening 
programs have provided for the last 50 years, as well as what 
they envision for the future of newborn screening.
    I want to thank you all for being here and I know that 
afterwards, the record will be open for additional questions 
too for those who are not able to make it to the hearing. Thank 
you very much for participating and thank you, Chairman Hagan.
    Senator Hagan. Thank you, Ranking Member Enzi. I am so glad 
we can work together on this bipartisan bill. It is always a 
pleasure to work with my colleague, Senator Enzi.
    Our first witness today is Ms. Natasha Bonhomme, the 
director of Baby's First Test, our Nation's clearinghouse of 
newborn screening information and education for parents and 
healthcare professionals.
    Miss Bonhomme.

           STATEMENT OF NATASHA BONHOMME, DIRECTOR, 
               BABY'S FIRST TEST, WASHINGTON, DC

    Ms. Bonhomme. Chairman Hagan, Ranking Member Enzi, good 
morning.
    Thank you for the opportunity to testify today on this 
important hearing about newborn screening. I am Natasha 
Bonhomme, director of Baby's First Test, the Nation's newborn 
screening clearinghouse. We offer families and healthcare 
professionals support throughout the newborn screening 
experience. In addition to being there when families need 
resources most, we bring family and public perspectives to the 
newborn screening dialog.
    Imagine it is 2008 and you are a new parent. You receive a 
call from the pediatrician on a Friday afternoon and learn that 
your baby's newborn screening results were not normal. During 
the 7 years I have worked in newborn screening, countless 
parents have described this scenario to me. They explain the 
anguish they felt as they had nowhere to turn to until the 
following week when the doctor's office was open. Fast forward 
to today and now 24 hours a day, 7 days a week, we are there 
for them.
    It is critical to ask: what do parents want and need in 
regards to newborn screening? In 2008, Genetic Alliance, the 
parent organization of Baby's First Test, and our partners, 
conducted surveys and focus groups with over 2,000 women to 
understand their attitudes and perspectives on newborn 
screening.
    Some of the key findings of this survey were that 98 
percent believe that newborns should be screened for conditions 
where early diagnosis can make a difference. More than 94 
percent believe that newborn screening was important to improve 
the health of babies. There are few programs we can turn to 
that have this level of public support. It is clear to the vast 
majority of people that because newborn screening has the 
ability to save and improve lives, it should receive strong 
support. While 1 in 300 babies are identified with a treatable 
condition, this program reaches nearly all of the 4 million 
babies born in this country annually.
    A key need of parents and the public is actionable 
information. Of those surveyed, 93 percent wanted information 
on what happens if there is an abnormal result and 89 percent 
wanted to know what specific conditions their baby would be 
screened for.
    During the same period of time, we were conducting our 
research. The Newborn Screening Saves Lives Act became law. 
This law provides a national framework to support education and 
evaluation programs. The information gathered from parents, 
health-
care professionals, State newborn screening programs, and other 
experts in the field helped us design the structure and the 
content of the newborn screening clearinghouse, also supported 
by the Newborn Screening Saves Lives Act.
    Fully launched 2 years ago, nearly 80 percent of our 
visitors are new to the site. This is to be expected as every 
day, thousands of babies are born and screened, and parents 
must learn all that they can about their new baby. We average 
more than 15,000 visits per month, and this grows steadily as 
we are able to get the word out about this resource.
    Some of the key components of the online clearinghouse 
include: comprehensive and specific details on all 50 State and 
territory newborn screening programs. The vast majority of 
parents and providers find this offering indispensable.
    We also provide information on what exactly newborn 
screening is, what to do if there is an abnormal result, as 
well as condition-specific information such as description, 
followup care, as well as support services. We also have 
information for health professionals, including links to 
diagnostic protocols, trainings and tool kits, and 
communication guides on how to speak to families about 
screening.
    While the clearinghouse has made great strides since its 
launch, we are eager to do more. This year, we plan to develop 
a Spanish language version of the site that not only provides a 
translation of all 100,000 pages of newborn screening content 
that we have, but also addresses specific issues and concerns 
of the Latino community in a culturally competent fashion.
    We also plan to conduct a followup national survey to 
evaluate newborn screening awareness initiatives and to track 
the needs of parents.
    The Newborn Screening Saves Lives Act has been instrumental 
in educating parents and providing support for newborn 
screening. This year, we celebrate 50 years of newborn 
screening. However, we know that most expecting and new parents 
still do not know what newborn screening is and what their 
State screens for. We are working to change that. As our data 
shows, newborn screening is the first step in a healthy start 
for our Nation's youngest citizens.
    Thank you for this opportunity to speak to the 
subcommittee. I look forward to answering any of your 
questions.
    [The prepared statement of Ms. Bonhomme follows:]
               Prepared Statement of Natasha F. Bonhomme
    Chairman Hagan, Ranking Member Enzi, and members of the 
subcommittee--good morning. Thank you for the opportunity to testify 
today at this important hearing about newborn screening.
    I am Natasha Bonhomme, director of Baby's First Test, the Nation's 
Newborn Screening Clearinghouse, the premier resource for newborn 
screening. We offer families and healthcare providers support 
throughout the newborn screening experience. In addition to being there 
when families need resources most and providing up to date information 
in an accessible manner, we bring family and public perspectives to the 
newborn screening dialog. By increasing awareness, Baby's First Test 
offers millions of newborns and their families a chance at a healthy 
and informed start.
    Imagine it is 2010 and you are a new parent. You receive a call 
from the pediatrician on a Friday afternoon and learned that your 
baby's newborn screening results were not normal. During the 7 years I 
have worked in newborn screening, countless parents have described this 
scenario to me, and they explain the anguish they felt as they had 
nowhere to turn until the following week when the doctor's office was 
open. Fast forward to today, and now 24 hours a day, 7 days a week, we 
are there for them.
                      what does the public think?
    It is critical to ask: ``What do parents want and need? '' when 
considering newborn screening. In 2008, Genetic Alliance, the parent 
organization of Baby's First Test, and partners conducted surveys and 
focus groups with more than 2,000 women about their attitudes and 
perspectives on newborn screening. This group was representative of the 
Nation at that time in regards to race/ethnicity and socio-economic 
status. Some key findings of this survey are:

     98 percent believed that newborns should be screened for 
conditions where early diagnosis can make a difference.
     More than 95 percent believed that newborn screening was 
important to help families prepare to care for a child with a 
condition.
     More than 94 percent believed that newborn screening was 
important to improve the health of babies.

    There are few programs we can turn to that have this level of 
public support. It is clear to the vast majority of people that because 
newborn screening has the ability to save and improve lives, it should 
receive strong support. While 1 in 300 babies are identified with a 
treatable condition found through newborn screening, this program 
reaches nearly all of the 4 million babies born in this country 
annually.
                             communication
    From the research we conducted, a key need of parents and the 
public is actionable information.

     86 percent wanted information on newborn screening either 
while planning a pregnancy or during the pregnancy. Only 44 percent 
remembered receiving information during this timeframe.
     93 percent wanted information on what happens if there is 
an abnormal result.
     89 percent wanted to know what specific conditions their 
baby was screened for.
     88 percent wanted to know how they would be told of the 
results.

    During our focus groups with families who had experienced an out-
of-range result, yet had a healthy child (also know as a false positive 
result), parents told us about receiving a phone call from their 
pediatrician's office saying that something was wrong with the newborn 
screening results. Countless times parents said that they received 
little to no information about the condition and no resources on where 
they could learn more. On multiple occasions, these calls came before 
the weekend, leaving sleep deprived new parents to find information on 
next steps on their own. Now, 24 hours a day, 7 days a week, parents 
have a place to turn.
                    newborn screening clearinghouse
    During the same period of time we were conducting our research, the 
Newborn Screening Saves Lives Act became law. This law provides a 
national framework to support educational programs for parents and 
grant initiatives for followup care. The information gathered from 
parents, healthcare professionals, State newborn screening programs, 
and other experts in the field helped us formed the basis for the 
structure and content of the Newborn Screening Clearinghouse, also 
supported by the Newborn Screening Saves Lives Act. Fully launched 2 
years ago, nearly 80 percent of the visitors to Baby's First Test are 
new to the site. This is to be expected as everyday thousands of babies 
are born and screened and parents must learn all they can about their 
new baby. Baby's First Test averages more than 15,000 visits per month. 
This grows steadily as we get the word out.
    Key components of the online Clearinghouse include:

     Comprehensive and specific information on the variety of 
conditions screened in all 50 States, Washington DC, Puerto Rico, the 
U.S. Virgin Islands, and Guam. The vast majority of parents and 
providers find this offering indispensable.
     Guidance on what this experience will involve: when does 
it take place (most parents don't know) how parents will receive 
results, what to do if there is an abnormal result, and how to obtain 
additional testing.
     Detailed information on all conditions screened including 
condition descriptions, immediate followup steps, treatments, expected 
outcomes, and support services/organizations.
     Information for health professionals including links to 
diagnostic protocols, trainings and tool kits for nurses, and 
communication guides on how to speak with families about newborn 
screening.
     Information on living with a condition found through 
newborn screening including sections that shows stories of children 
identified through newborn screening and the healthy lives they lead.

    Majority of the requests we get from parents have to do with 
obtaining results of their child's newborn screening, how to receive 
additional testing, and how can they share the story of their child 
being saved by this screening program.
    The Clearinghouse also invests in local and national programs to 
support newborn screening through its annual Challenge Awards. These 
awards support sustainable newborn screening educational efforts 
throughout the country including but not limited to:

     Developing nurse education and public awareness campaigns 
(Iowa).
     Incorporating newborn screening education into a home 
visiting program (Virginia).
     Evaluating the experiences of nurse-midwives to better 
understand their barriers and improve their skill level (Michigan).
     Designing outreach programs to raise awareness on newborn 
screening amongst WIC program participants (Illinois).
     Creating parent and provider videos on screening for 
Critical Congenital Heart Disease, which have been used throughout the 
country as States implement this new screening policy.

    Due to Genetic Alliance's 27-year history of bringing individuals, 
families, and communities into the dialog about health, it is important 
to us that we provide an on-ramp for families who want to become more 
involved in their communities. We provide training for parents 
interested in learning more about and making an impact in newborn 
screening. The Consumer Task Force on Newborn Screening was created to 
engage relevant stakeholders with an interest in newborn screening 
policies, activities, and current events. Members are chosen through a 
competitive application process to participate in a 1-year program. The 
three components of this program are training, project development, and 
project execution. We train members of the Task Force on issues 
relevant to newborn screening and implement projects targeting groups 
who typically are under-informed about the importance of newborn 
screening. After serving on the Task Force, members are equipped with 
the skills and knowledge to continue work on newborn screening programs 
or other maternal and child health-related issues.
    Through this program, members of the Consumer Task Force have been 
able to:

     Present comments to the Secretary's Advisory Committee on 
Heritable Disorder in Newborns and Children.
     Share their experiences at national and international 
conferences.
     Expand their project management skill set.
     Join their State newborn screening advisory committees.

    While the Clearinghouse has made great strides since its launch, we 
are eager to do more. Baby's First Test will undertake these additional 
projects this year:

     Develop a Spanish-language version of the Baby's First 
Test site that not only provides a translation of all 100,000 pages of 
newborn screening information but also addresses specific issues and 
concerns of the Latino community in a culturally competent fashion.
     Conduct a followup national survey on attitudes and 
perspectives on newborn screening to evaluate newborn screening 
awareness initiatives and to track the needs of parents.

                   cost savings of newborn screening
    Newborn screening not only saves lives but it also saves money. 
Information available through the Association of Public Health 
Laboratories indicate that the cost of treating severe combined 
immunodeficiency (SCID) also know as ``bubble boy'' disease can reach 
over $2 million. This fatal disease can be cured if a baby is 
identified early and given a bone marrow transplant. If this transplant 
is done within the first 3.5 months of life it typically costs around 
$100,000. Another example of cost savings is in congenital 
hypothyroidism, one of the most common conditions detected by newborn 
screening. It is estimated that nearly $400 million per year is saved 
by identifying babies early and providing them treatment, preventing 
devastating IQ loss.
    The Newborn Screening Saves Lives Act has been instrumental in 
educating parents and providing support for newborn screening, both 
through the Clearinghouse and through other programs. However, there is 
still much to be accomplished. Even though this year we celebrate 50 
years of newborn screening, a program that the Centers for Disease 
Control and Prevention named one of the great public health 
achievements in the Nation, we know that most expecting or new parents 
do not know what newborn screening is, or what their States do or do 
not screen for. This needs to change. As the data shows, newborn 
screening is a first step for a healthy start for our Nation's youngest 
citizens. The parents mentioned earlier are grateful for your support.
    Thank you for this opportunity to speak to the subcommittee. I hope 
my testimony has been informative and thought provoking and I look 
forward to answering questions.

    Senator Hagan. Thank you very much for your testimony.
    Our next witness is Dr. Rodney Howell, currently a 
Professor of Pediatrics at the University of Miami School of 
Medicine, but also one of the leading researchers and advocates 
in the history of newborn screening. Dr. Howell, we are 
certainly honored to have you with us today.

       STATEMENT OF R. RODNEY HOWELL, M.D., PROFESSOR OF 
 PEDIATRICS, UNIVERSITY OF MIAMI SCHOOL OF MEDICINE, MIAMI, FL

    Dr. Howell. Thank you very much, Madam Chairman Hagan, 
Ranking Member Enzi, and members of this committee.
    Thank you very much for inviting me here today to talk to 
this important committee.
    I have had the opportunity to see, firsthand for nearly 50 
years, the remarkable accomplishments of the newborn screening 
program in the United States. The current panel of conditions 
implemented by the States will, this year, identify 5,000 
children with hearing loss, 2,100 with hypothyroidism, 1,775 
children with sickle cell disease, 1,250 children with cystic 
fibrosis, and additional serious conditions for a total of 
12,500 children whose lives will either be profoundly altered 
or saved due to newborn screening.
    As a physician and a geneticist, I am very encouraged by 
the therapeutic pipelines in development that represent great 
promise of new science and hold potential that we may help many 
more families and children.
    Two examples of how advances in sciences will impact 
newborn screening in the coming years involve Duchenne muscular 
dystrophy and spinal muscular atrophy. Both of these 
devastating conditions have drug therapies currently under 
development, which will likely be of great benefit, but they 
will require to be administered very soon after birth. 
Therefore, this will require the availability of newborn 
screening for these conditions.
    The NIH Hunter Kelly component of the Newborn Screening 
Saves Lives Reauthorization of 2013 is really essential. It is 
a very important part of the legislation that will support the 
research needed to develop new therapy for conditions for which 
we currently lack treatment, and there are a considerable 
number of those.
    Now that we have treatments for conditions that can be 
diagnosed and treated as a result of newborn screening, we will 
also need to have continuing support for large pilot programs 
for the study of the long-term outcomes of children and infants 
diagnosed as a result of newborn screening.
    Newborn screening also has a potential of actually saving 
money in our challenged healthcare system. SCID, or Severe 
Combined Immunodeficiency as it is officially known, is a 
condition where infants are born lacking an immune system. If a 
baby with SCID is not diagnosed at birth, the outcome is death 
in infancy, but usually only after weeks or months in a 
hospital intensive care unit battling life threatening 
infections.
    In addition to the enormous emotional burdens to the 
family, there are medical bills that routinely exceed hundreds 
of thousands of dollars. On the other hand, if a baby with SCID 
undergoes newborn screening as we currently recommend, and is 
identified at birth at a cost of well under $20, the baby can 
receive lifesaving umbilical transplant in the outpatient 
clinic over a period of days, and that transplant will cost 
under $50,000.
    I am extremely proud of the committee's work and their 
thoroughness, and believe that Senate bill 1417 builds on the 
accomplishments of the newborn screening program; will allow 
the committee to continue to deliver the latest evidence-based 
diagnoses and treatments for now and in the future; and holds 
tremendous promise for genetically based therapies that will 
benefit our Nation's children and families.
    I greatly appreciate the support of each member of this 
committee for your continuing interest and support in this 
important legislation.
    Thank you very much.
    [The prepared statement of Dr. Howell follows:]
              Prepared Statement of R. Rodney Howell, M.D.
    Chairwoman Hagan, Senator Enzi and members of this subcommittee 
thank you very much for inviting me to testify today on Newborn 
Screening Saves Lives: The Past, Present and Future of the Newborn 
Screening System. I am a pediatrician who specializes in genetic 
disorders that produce serious biochemical abnormalities in children 
and was beginning my career at Johns Hopkins when newborn screening was 
beginning in Maryland in the 1960s. I have had the opportunity to see 
first-hand for over nearly 50 years the remarkable accomplishments of 
our newborn screening programs in the United States.
    Children with an inherited condition known as phenylketonuria, or 
PKU, if untreated have profound developmental delay with an average IQ 
of less than 20. This means that such untreated children, who have a 
normal life-span, are unable to speak or care for even simple needs, 
and require full-time care. They are robbed of many of life's 
opportunities. Over 50 years ago, it was shown that babies with PKU 
identified at birth and treated with a very special diet could grow 
into adults with normal abilities. Dr. Robert Guthrie at the State 
University of New York in Buffalo solved a key problem, and developed a 
reliable, inexpensive test that could be done on all babies born in 
this country. This led to the beginning of newborn screening, which is 
carried out in every State under the leadership of the individual State 
health departments.
    The use of the Guthrie test, or the PKU test, fairly quickly spread 
throughout the United States. And this week, we are celebrating the 
50th anniversary of our Newborn Screening program. Since the beginning, 
newborn screening has been carried out under the aegis of the State 
Health Departments and has always been among the most successful 
preventive health programs in this country. And today, we have 
thousands of adults, treated for PKU from infancy functioning well in 
all the walks of life.
    Since the benefit of the early diagnosis and treatment of PKU was 
so very dramatic, individual States, which are responsible for newborn 
screening, began to add tests for other conditions, using the same 
blood sample, to their newborn screening programs. Such conditions as 
congenital hypothyroidism were among the more common additions since 
early diagnosis and treatment of this condition also can prevent 
substantial developmental delay. But since each State has its own 
advisory panels, there developed considerable variation among the 
States. This variation was not only in the specific conditions being 
tested, but also the numbers of conditions included in the screening 
panel. In other words, whether your child would be identified to have a 
serious medical condition and receive the necessary life-saving medical 
intervention simply depended on the State in which your baby was born. 
This became a big problem for at-risk families who moved to another 
State between pregnancies. It was a lottery that the public health 
system never intended and consistency between the States needed to be 
established.
    Early efforts at harmonization of screening panels between States 
began when the Maternal and Child Health Bureau/HRSA charged the 
American College of Medical Genetics to evaluate the scientific and 
medical information related to screening for specific conditions, and 
to make recommendations based on this evidence. They convened an expert 
group which produced a report which recommended a uniform screening 
panel and system.
    Then Title XXVI of the Children's Health Act of 2000 enacted 
sections of the Public Health Service Act which established the 
Advisory Committee on Heritable Disorders in Newborns and Children 
(Committee), which held its first meeting in 2004.
    The Advisory Committee on Heritable Disorders in Newborns and 
Children was established to provide advice to the Secretary of Health 
and Human Services on newborn screening. It was my privilege to serve 
as the founding chairman of this committee and continue in this role 
for the committee's first 8 years. When the committee first began its 
work, there was extraordinary variation among the States in screening 
programs. In the year 2000, 35 percent of the States were testing for 
fewer than 5 conditions, and 65 percent were testing for 5-10 
conditions--none were testing above this number. Early in its work, the 
committee after careful review and study accepted the report of the 
American College of Medical Genetics and recommended that the more than 
4,000,000 babies born each year in the United States be tested for 29 
specific disorders including certain metabolic, and hearing 
deficiencies in early 2005.
    It has been most gratifying to see how the various States have 
responded to recommendations from the Advisory Committee. Although 
States are responsible for their own screening programs, and virtually 
every State has an advisory committee that oversees decisions for that 
individual State, it is extremely difficult (even for large States) to 
have the extensive expertise required in the evaluation of these 
individually rare inherited conditions. The Advisory Committee 
membership contains or has access to all the required expertise. The 
legislation under which the Advisory Committee works also requires that 
all recommendations for inclusion in the newborn screening panel be 
evidence-based. As the committee has made recommendations, the States 
have been extremely responsive in reviewing these recommendations in 
light of their own needs, and in virtually every situation has adopted 
the recommendations of the Advisory Committee.
    The committee has established a program for the recommendation of 
other conditions to be added to the recommended uniform screening 
panel, or the RUSP. It is felt that any individual, group, or 
organization should be able to submit a nomination to the committee for 
a condition to be added to the recommended RUSP. In order to accomplish 
this the committee (http://www.hrsa.gov/advisorycommittees/
mchbadvisory/heritabledisorders) has developed a form outlining the 
exact information needed and directions for presenting such a 
nomination. To date, 10 completed nominations for new conditions to be 
considered for addition have been submitted to the committee. After 
careful review by the committee, and evidence review that would be 
necessary for consideration for newborn screening, three additional 
conditions have been recommended by the committee for addition to the 
RUSP. The Secretary of HHS has approved two of these (severe combined 
immune deficiency and critical congenital heart disease) and is 
currently considering the recommendation of the third, Pompe Disease.
    It is important to emphasize that the conditions that are included 
on the newborn screening panel all result in serious medical 
complications (e.g., developmental delay) and/or death if not 
recognized early. All children with these conditions benefit from early 
diagnosis and treatment.
    Since the passage of Public Law 110-204 in 2008 (Newborn Screening 
Saves Lives Act of 2008) there has been great harmonization among the 
States, and at the end of 2010, 100 percent of U.S. births were 
screened for over 30 conditions. And as a result of these expanded 
screening programs lives have clearly been saved.
    The current implementation by the States of the core panel of 
conditions (not including severe combined immune deficiency and 
critical congenital heart disease both of which are in the process of 
being implemented across the country) will identify 5,064 children with 
hearing loss, 2,156 with primary congenital hypothyroidism, 1,775 
children with sickle cell disease, 1,248 children with cystic fibrosis, 
and 239 children with medium-chain acyl-CoA dehydrogenase deficiency, 
and other important conditions for a total of 12,500 children yearly 
whose lives will be either profoundly altered or saved due to newborn 
screening.
    The Secretary's Advisory Committee has worked tirelessly to meet 
the Nation's public health needs and the needs of our children. I am 
particularly proud of the rigor that it has applied to the evidence 
review of conditions that have been nominated for consideration to the 
committee. As a physician and a geneticist, I am equally encouraged by 
the therapeutic pipelines in development that represent great promise 
of new science and hold potential that we may help many more families 
and children. Certain of the mucopolysaccharide storage diseases are 
well-positioned, with new approved therapies, to be considered for 
addition to the newborn screening panels.
    There are many new opportunities on the horizon but two come to 
mind. Two examples of how advances in science will impact newborn 
screening in coming years are Duchenne Muscular Dystrophy and spinal 
muscular atrophy. Both of these disorders result in profound and 
devastating health consequences for the affected children. In both 
these conditions, drug therapies are currently under development which 
will likely be of the greatest benefit if administered, 
presymptomatically, which will be very soon after birth. The 
availability of newborn screening programs for these disorders will be 
essential to benefit maximally from any new treatments.
    The NIH Hunter Kelly component of the Newborn Screening Saves Lives 
Reauthorization of 2013 is an essential part of the legislation that 
will support research needed to develop new therapies for conditions 
for which we currently lack treatment. Some of our vexing conditions in 
the newborn, which we could readily detect through newborn screening, 
currently lack safe and effective treatment.
    Now that we have treatments for conditions that can be diagnosed 
and treated as a result of newborn screening, we need additional 
support for the study of the long-term outcomes of infants treated as a 
result of newborn screening.
    As other conditions are recommended for addition to the RUSP, we 
will need to identify funding and partners for large pilot research 
projects prior to the implementation of a program throughout the 
country. Prior to the full implementation of the newborn screening for 
severe combined immune deficiency, a large pilot study was carried out 
that was a great example of cooperation between the public sector 
organizations, and a not-for-profit Foundation.
    Public information about newborn screening has been recognized for 
a long time as not only important but lacking. Some public concern 
about the use of residual blood samples has in my opinion been linked 
to a lack of understanding about the program itself. The HRSA Clearing 
House for Newborn Screening Information and the National Newborn 
Screening and Genetic Resource Center will go a long way to address 
these needs.
    The CDC Newborn Screening Quality Assurance Program is known 
throughout the world for its excellent work. This program has been, and 
remains, vital to the entire newborn screening program. As I travel the 
United States as well as Europe, Asia and the Middle East to meet with 
local leaders dealing with newborn screening, this distinguished 
program is routinely identified as vital. And this group's provision of 
quality assurance materials is essential to the development of new 
tests, and the assurance that our testing procedures are working well.
    It is critical to the health of our infants that the Nation's 
newborn screening programs be reauthorized with the passage of the 
Newborn Screening Saves Lives Reauthorization Act of 2013.
    In consideration of the life-altering potential advances on the 
near horizon for so many of our Nation's children, I want to call 
particular attention to the new ``Priority Review'' section of the 
legislation which serves to strengthen the Federal newborn screening 
program. In our current newborn screening programs, we are regularly 
concerned with delays of days during which an affected infant, if not 
identified, can die or be damaged. And in considering new treatments, 
if there is a beneficial treatment to be considered, delays mean lost 
lives.
    Under the reauthorization, there will be consistent and predictable 
time periods allowed completing the evidence review process. It will be 
most important that we work to ensure that sufficient funds are 
available for these costly and intense evidence reviews required by the 
committee. I believe that the impact of these timelines will encourage 
nominees to develop and submit more complete nomination packages and 
will provide the review committee an appropriate period of time to 
thoroughly and completely review the nomination to determine whether 
the condition meets all of the critical scientific standards necessary 
to warrant addition to the RUSP. It will require a lot of hard work, 
and of course we cannot afford any shortcuts since babies lives are at 
stake.
    Equally important, this legislation will encourage the committee to 
more closely align its activities with the development of new and 
emerging interventions to narrow the gap between the approval of new 
treatments and the ability to identify the babies who could be saved if 
identified through newborn screening--again without undermining or 
diminishing the role of science in the committee process.
    The individuals who serve on the Secretary's Advisory Committee do 
an incredible job of balancing limited public health resources with the 
goal of identifying babies who could benefit from newborn screening. 
Not only does newborn screening save lives, the program actually 
represents overall cost savings to the American healthcare system 
especially important at this time of extraordinary restricted funds. 
Medical interventions following newborn screening can prevent or 
ameliorate severe, childhood-onset diseases and reduce the financial 
burden of intensive care hospitalizations.
    SCID (severe combined immune deficiency) where infants are born 
lacking an immune system provides a very clear case study demonstrating 
the importance of newborn screening. If a baby with SCID is not 
diagnosed at birth, the outcome is death in infancy but only after 
weeks or months in a hospital intensive care unit battling life-
threatening infections. In addition to the enormous emotional burdens 
to families as well as lost time at work for parents there are medical 
bills that routinely exceed hundreds of thousands of dollars. 
Unfortunately, in the end it is common that a baby with SCID doesn't 
survive this long hospital ordeal, so the devastating loss of a child 
is added to the family's burden. On the other hand, if a baby with SCID 
undergoes newborn screening and is identified at birth at a cost of no 
more than $20, the baby can receive a life-saving umbilical blood 
transplant in the outpatient clinic over a period of days at a total 
cost of around $50,000.
    We are at a unique point in history. The mapping of the Human 
Genome is now complete. Genetics has moved out of the laboratory and 
into the clinic, where its applications can save lives every day. The 
current progress in the development pipeline of genetically targeted 
therapies is tremendous.
    I am very proud of the committee's work and thoroughness and 
believe that S. 1417 builds on the accomplishments of the newborn 
screening program and will allow the committee to continue to deliver 
the latest evidence-based diagnoses and treatments for now and in the 
future which holds tremendous promise for genetically based therapies 
that will benefit our Nation's children and their families.

    Senator Hagan. Thank you, Dr. Howell. And certainly, as a 
mom, thank you for all the research you have done on pediatrics 
for so many years, and for the difference this has made in the 
lives of so many children nationwide.
    Our next witness is Dr. Jennifer Howse, president of the 
March of Dimes which, as an organization, has been involved in 
the development and spread of newborn screening for more than 
50 years.
    Dr. Howse, thank you on behalf of all the work you do for 
the March of Dimes, and for being here today.

       STATEMENT OF JENNIFER L. HOWSE, Ph.D., PRESIDENT, 
                 MARCH OF DIMES, WASHINGTON, DC

    Ms. Howse. Thank you very much and good morning, Madam 
Chair and Ranking Member Enzi.
    I want to begin just by commending both of you for 
representing States that are currently offering 30 out of the 
31 recommended conditions with a great deal of attention on the 
remaining test; so just commendations to both of you.
    As president of the March of Dimes, I have the privilege of 
representing a very unique partnership of scientists, 
clinicians, parents, and volunteers who work together to 
prevent birth defects, pre-term birth, and infant mortality. So 
I very much appreciate the opportunity to testify before you 
today on newborn screening, which is truly one of the great 
public health victories of the early 21st Century.
    Newborn screening is critically important. It is a highly 
effective public health program that tests every newborn for 
certain genetic, metabolic, hormonal, and functional conditions 
that are not otherwise apparent at their birth. Approximately 1 
in every 300 newborns has a condition that can be detected 
through screening.
    Newborn screening detects conditions that, if left 
untreated, can cause disability, developmental delay, prolonged 
illness, or even death. But if diagnosed early through 
screening, these disorders can be managed successfully, thus 
reducing not only the physical burden of the disease, but also 
the associated economic burden on families, communities, and 
our Nation.
    This year, we celebrate the 50th anniversary of newborn 
screening. The March of Dimes is very proud of our decade-long 
involvement in the history, and funding, and research that has 
helped to lead to contributions for the development of new 
screening tests.
    The progress of newborn screening over the past two decades 
did persuade the Congress to pass the Newborn Screening Saves 
Lives Act in 2008. The law renewed and updated various programs 
that underpin the States' newborn screening efforts and the 
Federal Secretary's Advisory Committee on Heritable disorders. 
The law is now due for its regular 5-year renewal. Passage of 
the Newborn Screening Saves Lives Reauthorization Act is 
essential to the continued success of the newborn screening 
programs across our Nation.
    Very importantly, reauthorization will ensure the 
uninterrupted continuation of the Secretary's Advisory 
Committee on Heritable Disorders and its vital work to maintain 
and update the recommended uniform screening panel that States 
use to consider, to adopt, and to implement new conditions. And 
so, that committee provides also ongoing planned evidence 
reviews and its work should be able to be continued 
uninterrupted.
    The Newborn Screening Saves Lives Reauthorization Act also 
extends very, very important programs at HRSA, CDC, and NIH 
which include seven genetic and newborn screening regional 
collaborative groups, and a national coordinating center to 
support States' capacity. The Critical Congenital Heart Disease 
Newborn Screening Demonstration Program, which is improving 
protocols for point of care screening; Baby's First Test, which 
you have already heard about, a wonderful national education 
resource for parents; the Newborn Screening Technical 
Assistance and Evaluation Program, which serve to help States 
evaluate the effectiveness of their screening programs; a 
quality assurance program, which continues to upgrade the 
accuracy of newborn screening tests; and the very important 
Hunter Kelly Research Program at NIH, which supports grants and 
contracts to improve technology related to newborn screening.
    Today, 42 States and the District of Columbia require 
screening for at least 29 of the recommended 31 conditions. 
Millions of babies have been screened for dozens of disorders, 
and in thousands of cases, the health and well-being of these 
children has been preserved. Newborn screening also represents 
a model, we believe, of Federal, State, public health 
partnership that has produced extraordinary improvements in 
child health.
    So we urge you not to let this vital public health program 
falter. On behalf of 3 million March of Dimes volunteers and 
countless other organizations and families, we urge you and we 
urge the Senators to cosponsor, and to support the Newborn 
Screening Saves Lives Reauthorization Act. We quite 
respectfully request that you report this bill out of 
committee.
    We look forward to working closely on this bill with you, 
with chamber leadership to ensure that it can be passed as soon 
as possible by both the Senate and the House.
    We thank you so much for your considered attention to this 
vital health issue, and we stand ready to assist you in 
ensuring efforts for newborn screening programs to continue so 
that they may protect the health and well-being of newborns for 
many years to come.
    Thank you very much.
    [The prepared statement of Ms. Howse follows:]
             Prepared Statement of Jennifer L. Howse, Ph.D.
    Good morning Chairwoman Hagan, Ranking Member Enzi, and members of 
the Subcommittee on Children and Families. My name is Dr. Jennifer 
Howse, and I'm proud to serve as president of the March of Dimes 
Foundation, a unique partnership of scientists, clinicians, parents, 
members of the business community and other volunteers affiliated with 
52 chapters and over 200 divisions in every State, the District of 
Columbia and Puerto Rico. I appreciate this opportunity to testify 
today on newborn screening, one of the great public health victories of 
the 20th century, and one which continues to save infants' lives every 
day.
    The March of Dimes is a national voluntary health agency founded in 
1938 by President Franklin D. Roosevelt to support research and 
services related to polio. Today, the Foundation works to improve the 
health of women, infants and children by preventing birth defects, 
premature birth and infant mortality through research, community 
services, education and advocacy. In 1998, the March of Dimes 
established its Global Programs division to extend its mission overseas 
through partnerships with countries to deliver interventions directed 
at reducing birth defects and pre-term birth.
                               background
    Newborn screening is a critically important and highly effective 
public health program for testing every newborn for certain genetic, 
metabolic, hormonal and functional conditions not otherwise apparent at 
birth. Approximately 1 in every 300 newborns has a condition that can 
be detected through screening. Newborn screening detects conditions 
that, if left untreated, can cause disabilities, developmental delays, 
illnesses or even death. If diagnosed early, many of these disorders 
can be managed successfully, which not only reduces the physical burden 
of disease but can also help to reduce the associated economic burden 
on families, communities, and government.
    Since the mid-1960s, the success of newborn screening programs has 
led to routine testing for the over 4 million infants born in the 
United States each year. The Centers for Disease Control and Prevention 
(CDC) estimates that each year over 6,000 newborns are diagnosed as 
having a treatable metabolic condition and another 12,000 are found to 
have hearing impairment that requires followup. The majority of newborn 
screen tests are performed using a single sample of a few drops of 
blood from the newborn's heel, usually taken in the hospital 24 to 48 
hours after birth. Hearing screening and screening for critical 
congenital heart disease (CCHD) are performed with non-invasive 
devices; hearing screening utilizes a handheld device held near the 
infant's ear, while pulse oximetry is used to test for CCHD by way of a 
small probe that clips onto a newborn's hand or foot.
                      history of newborn screening
    This year, our Nation is celebrating the 50th anniversary of 
newborn screening; however, the program's origins reach back much 
earlier. In 1959, after the March of Dimes had led our Nation to the 
successful development of the Salk and Sabin polio vaccines and 
refocused our mission on birth defects prevention, we initiated 
discussions about newborn screening on a large scale as a means to 
detect and prevent the catastrophic consequences of metabolic 
conditions such as phenylketonuria (PKU). This led to a grant to Dr. 
Robert Guthrie to support his development of a simple and effective 
population-based screening test for PKU. Dr. Guthrie's work 
demonstrated conclusively that identifying infants with PKU and 
immediately beginning a low-protein diet could completely avert the 
otherwise devastating developmental disabilities PKU causes. These 
results were so dramatic that the State of Massachusetts mandated PKU 
screening for all infants in 1968, beginning the modern era of newborn 
screening.
    Subsequently, the March of Dimes funded research into tests for 
other genetic and metabolic diseases in newborns as we promoted newborn 
screening as a central component of newborn medical care. The 
Foundation is deeply proud of our decades-long history of funding 
research that has led or contributed to the development of numerous 
newborn screening tests, including those for congenital adrenal 
hyperplasia, biotinidase deficiency, and others. Together, these tests 
have allowed us to preserve the health and well-being of thousands of 
children.
    As more tests became available, however, a patchwork developed in 
which some States screened for numerous disorders and others very few. 
In 2000, the March of Dimes led the way in proposing a national 
standard for newborn screening which included a core list of 9 
disorders, with provisions for expanding the list as science and 
technology evolved. At the same time, the March of Dimes and others in 
the policy community began working with Congress to bring new attention 
and focus to this rapidly developing field. We worked to identify 
policy changes that would allow the Federal Government to assist States 
in evaluating new tests and determining whether to include them in 
their screening panels. The landmark Children's Health Act of 2000 
(P.L. 106-310) included two vital provisions that advanced newborn 
screening policies. The law created the Secretary's Advisory Committee 
on Heritable Disorders in Newborns and Children to provide expert 
evaluations of new tests and consideration of challenges in the field. 
It also established Federal grants to enhance and evaluate State 
newborn screening programs, allowing them to develop and implement best 
practices.&
    In August 2004, the American College of Medical Genetics (ACMG) 
submitted a report requested by the Health Resources and Services 
Administration (HRSA) setting out proposed nationwide standards for 
State newborn screening programs. The report listed 29 core treatable 
disorders that should be targeted directly and an additional 25 
secondary conditions for which test results should be reported. These 
secondary disorders were not directly targeted by newborn screening 
because they did not yet have documented treatments or because there 
was limited knowledge of their natural history. Their presence would be 
revealed, however, in the course of screening for the core conditions. 
The ACMG recommendation to screen all newborns for 29 core conditions 
was endorsed by the Secretary's Advisory Committee on Heritable 
Disorders in Newborns and Children as well as the March of Dimes in 
2005.
    The Federal Recommended Uniform Screening Panel (RUSP) gave 
advocates a powerful tool to press State legislatures to adopt this 
consistent set of tests. The March of Dimes led a grassroots advocacy 
campaign to secure adoption of the recommended uniform panel in every 
State, issuing annual report cards to document progress. And it was 
spectacularly effective: in 2004, only 21 States screened for at least 
nine of the recommended conditions, but just 4 years later all but two 
States were screening for at least 21.
    Since 2010, the Advisory Committee, with the Secretary's approval, 
has added two new conditions to the Recommended Uniform Screening 
Panel: severe combined immunodeficiency (SCID) and critical congenital 
heart disease (CCHD). A third condition, Pompe Disease, is currently 
awaiting a decision by the Secretary. This year alone, the March of 
Dimes and allies like the American Heart Association have advocated 
successfully for 24 States to add CCHD to their newborn screening 
panels. This system of review and recommendations by the expert 
Advisory Committee, approval and dissemination by the HHS Secretary, 
and adoption by the States continues to work effectively to ensure that 
tests are evaluated appropriately and then adopted in a timely fashion 
to protect the health of our Nation's infants.
                 the newborn screening saves lives act
    The remarkable progress of newborn screening over the past two 
decades persuaded Congress to pass the Newborn Screening Saves Lives 
Act in 2008. The law renewed and updated various programs that underpin 
States' newborn screening efforts as well as the Secretary's Advisory 
Committee. Most notably, it codified the authority of the Secretary of 
Health and Human Services to establish the Recommended Uniform 
Screening Panel and to accept or reject the Advisory Committee's 
recommendations to add conditions to the RUSP. The law is now due for 
its regular 5-year renewal.
    The March of Dimes is deeply grateful to Subcommittee Chairwoman 
Kay Hagan and Senator Orrin Hatch and Representatives Lucille Roybal-
Allard and Mike Simpson for introducing S. 1417 and H.R. 1281, the 
Newborn Screening Saves Lives Reauthorization Act. Reauthorization is 
critical to ensuring we continue to provide the most accurate and 
comprehensive screening available to our Nation's children.
    Passage of the Newborn Screening Saves Lives Reauthorization Act is 
essential to the continued success of newborn screening programs across 
our Nation. Most importantly, reauthorization will ensure the 
uninterrupted continuation of the Secretary's Advisory Committee on 
Heritable Disorders and its work. The Advisory Committee's charter 
expired in April of this year, and it was only through the timely 
action of Health and Human Services Secretary Kathleen Sebelius that it 
was extended on a discretionary basis for up to an additional 2 years. 
Maintaining and updating the Recommended Uniform Screening Panel that 
States use to adopt and implement new conditions is vital, and ongoing 
and planned evidence reviews should not be delayed.
    The Newborn Screening Saves Lives Reauthorization Act also extends 
important grant programs at the Health Resources and Services 
Administration, Centers for Disease Control and Prevention and National 
Institutes of Health, including:

     Seven Genetics and Newborn Screening Regional 
Collaborative Groups (RCs) and a National Coordinating Center (NCC) 
funded by HRSA, which strengthen and support the genetics and newborn 
screening capacity of States using a regional approach to addressing 
mal-distribution of genetic services and resources. Special emphasis is 
given to underserved populations and those families and providers in 
rural areas. The RCs include all States, U.S. Territories and the 
District of Columbia.
     The Critical Congenital Heart Disease (CCHD) Newborn 
Screening Demonstration Program, a 3-year HRSA grant designed to 
support the development, dissemination and validation of screening 
protocols and newborn screening infrastructure for point of care 
screening specific to CCHD. CCHD presents special challenges to 
implementation since it is not tested with the blood spot.
     Baby's First Test, a national educational resource center 
for newborn screening presently operated by Genetic Alliance under a 
HRSA grant. Baby's First Test informs and empowers families and 
healthcare providers throughout the newborn screening experience.
     The Newborn Screening Technical Assistance and Evaluation 
Program (NewSTEPs) funded by HRSA, which serves as a technical 
assistance program for State newborn screening systems.
     Newborn Screening Quality Assurance Program (NSQAP), a 
comprehensive CDC program devoted to ensuring the accuracy of newborn 
screening. NSQAP is the only comprehensive program in the world devoted 
to ensuring the accuracy of newborn tests. In 2012, the program 
guaranteed the quality of newborn testing in more than 550 laboratories 
worldwide, and assured identification of between 5,000 and 6,000 
infants with treatable diseases who might have otherwise died or become 
severely disabled.
     The Hunter Kelly Research Program, which supports numerous 
grants and contracts to develop and improve technologies related to 
newborn screening. Through the Hunter Kelly Newborn Screening Research 
Program, the Eunice Kennedy Shriver National Institute of Child Health 
and Human Development also funds the Newborn Screening Translational 
Research Network, a resource for investigators engaged in newborn 
screening-related research.
                               conclusion
    Today, 42 States and the District of Columbia require screening of 
at least 29 of the 31 treatable core conditions. Millions of babies 
have been screened for dozens of disorders, and in thousands of cases, 
the health and well-being of those children has been preserved. Newborn 
screening represents a model Federal-State public health partnership 
that has produced extraordinary improvements in child health.
    We must not allow this vital public health effort to falter. Our 
most immediate challenge is to preserve and renew the Newborn Screening 
Saves Lives Act. On behalf of over 3 million March of Dimes volunteers 
and countless other organizations and families, I urge Senators to 
cosponsor and support S. 1417 and the committee to report the 
legislation. We look forward to working closely with the committee and 
chamber leadership to ensure it can be passed as soon as possible in 
both the Senate and the House. Furthermore, although beyond the 
jurisdiction of this committee, I urge Congress and the Administration 
to agree on a balanced approach to deficit reduction that protects 
investments in programs such as newborn screening. Authorization bills 
are only effective insofar as funding is appropriated to implement 
their provisions.
    Newborn screening has improved and saved the lives of countless 
thousands of affected children. Thank you for your attention to this 
vitally important child health issue. The March of Dimes stands ready 
to assist you in ensuring that newborn screening programs will continue 
to preserve the health and well-being of newborns for many years to 
come.

    Senator Hagan. Thank you, Dr. Howse, and thank you to the 
March of Dimes, to your staff and to your many, many volunteers 
all across the country for the work that they do.
    And now, we have our last witness, Mrs. Joye Mullis, of 
Raleigh, NC. I certainly want to welcome her husband Jeremy and 
her son Ethan to the hearing today. Mrs. Mullis has some 
personal experiences with newborn screening that, I hope, will 
remind all of us here today why this is so important.
    Mrs. Mullis.

             STATEMENT OF JOYE MULLIS, RALEIGH, NC

    Mrs. Mullis. Good morning, Madam Chairman Hagan, Ranking 
Member Enzi.
    Thank you for the opportunity to share our story with you 
today.
    As with all children, my son's story began well before his 
birth. I believe that every heart has a story and this is his.
    My husband and I learned that we were expecting our first 
child on a hot July morning in 2008. Our joy and celebration 
were tempered quickly by some early complications. However, we 
were overjoyed to see our baby's strong heartbeat on the screen 
in front of us during our first ultrasound.
    From that point forward, my husband and I weathered the ups 
and downs of a complex pregnancy with optimism and hope. In 
all, I had five ultrasounds, and ultimately we learned that our 
baby would be born with two noncritical birth defects that 
would require surgical intervention. Our physician assured us, 
however, that his heart was strong and his prognosis was good.
    On March 8, 2009 our precious baby boy Ethan was born. My 
husband and I spent the first 8 hours of his life with him, 
surrounded by friends and family. We prayed that he would be 
OK, but we had no idea that in just a short time, new 
challenges would be coming our way.
    As the postpartum nurse was bringing Ethan back to our room 
after his newborn screening, she noticed that, in her words, 
``He just did not look right.'' She immediately wheeled him 
back into the nursery and hooked him up to a pulse oximeter. 
Through that noninvasive screening, she discovered that Ethan's 
oxygen saturation level, which should have been at least 95 
percent, was in the mid-60's. I will never forget hearing the 
words, ``We have reason to believe there is something wrong 
with your baby's heart.''
    Ethan was diagnosed with pulmonary atresia with a 
ventricular septal defect. While a pediatric cardiologist 
explained in great detail what that meant, the bottom line was 
that our son would need to be rushed to Duke University Medical 
Center in Durham for open heart surgery. It was not until he 
was 9 weeks old that Jeremy and I walked out of Duke as a 
family of three and into our home with our son.
    Four years later, Ethan's health is now stable. He has 
endured 14 surgeries and procedures, and he has survived full 
cardiac and pulmonary arrest. Despite his rocky start, we now 
have a boy on our hands who loves bugs, and cars, and playing 
with his preschool friends. We know that there will be more 
surgeries ahead, but we cherish the time that we have together 
with him now.
    Every heart has a story. The story of Ethan's is one of 
strength and resilience. While pulse oximetry screening cannot 
take away the heartache of surgeries and complications, it can 
be the start of a lifetime of success for a baby born with a 
congenital heart defect.
    It has taken a lot of work to get Ethan to where he is 
today, and it all began with an observant nurse. However, 
babies should not have to rely on a doctor's or a nurse's 
intuition to diagnose potentially fatal conditions.
    Ethan's story exemplifies the importance of comprehensive 
newborn screening, and the Newborn Screening Saves Lives 
Reauthorization Act will help ensure that infants throughout 
our Nation are screened for treatable conditions like Ethan's 
at birth.
    I urge all members of the committee to support this 
legislation, and I sincerely hope it will be passed by the full 
Senate this fall.
    Thank you again for listening to our story today, and may 
God bless you.
    [The prepared statement of Mrs. Mullis follows:]
                   Prepared Statement of Joye Mullis
    Good morning Madam Chairman Hagan, Ranking Member Enzi and 
distinguished members of the subcommittee.
    Thank you for the opportunity to share my story with you today.
    As with all children, my son's story began well before his birth. I 
believe that every heart has a story and this is his.
    My husband and I learned that we were expecting our first child on 
a hot July morning in 2008.
    Our joy and celebration was tempered quickly by some early 
complications; however, we were overjoyed to see our baby's strong 
heartbeat on the screen in front of us during our first ultrasound.
    From that point forward, my husband and I weathered the ups and 
downs of a complex pregnancy with optimism and hope.
    In all, I had five ultrasounds and ultimately we learned that our 
baby would be born with two non-critical birth defects that would 
require surgical intervention. Our physician assured us, however, that 
our baby's heart was strong and the prognosis was good.
    On March 8, 2009, our precious baby boy Ethan was born. My husband 
and I spent the first 8 blissful hours of his life with him, surrounded 
by family and friends. We prayed that he would be OK, but we had no 
idea that in just a short time, new challenges would be coming our way.
    As the post-partum nurse was bringing Ethan back to our room after 
his newborn screening, she noticed that ``he just didn't look right'' 
and immediately wheeled him back into the nursery and hooked him up to 
a pulse oximeter.
    Through that non-invasive screening, she discovered that Ethan's 
oxygen saturation level, which should have been at least 95 percent, 
was in the mid-60s percentile.
    I will never forget hearing the words, ``We have reason to believe 
there is something wrong with your baby's heart.'' Questions raced 
through my mind and fear coursed through my veins.
    I asked myself, ``How could there be something wrong with his 
heart? How did this go unnoticed before now?'' I was angry and very, 
very scared.
    Ethan was diagnosed with pulmonary atresia with a ventricular 
septal defect. While a pediatric cardiologist explained in great detail 
what that meant, the bottom line was that my hours old son would need 
to be rushed to Duke University Medical Center for his first open-heart 
surgery.
    It wasn't until Ethan was 9\1/2\ weeks old that my husband and I 
walked out of Duke as a family of three and into our home with our son.
    Four years later, Ethan's health is now stable. He has endured 14 
surgeries and procedures, and an incident in which he went into full 
cardiac and pulmonary arrest taking a team of about 30 doctors and 
nurses, and 11 minutes of CPR to bring him back to us.
    Despite his rocky start, we now have a boy on our hands who loves 
bugs, cars, and playing with his preschool friends. There may be more 
surgeries ahead, and we cherish the time we have together now.
    Every heart has a story. The story of Ethan's is one of strength 
and resilience.
    While pulse oximetry screening can't take away the heartache of 
surgeries and complications, it can be the start of a lifetime of 
success for a baby born with a congenital heart defect.
    It has taken a lot of work to get Ethan to where he is today, and 
it all began with an observant nurse.
    However, babies should not have to rely on a doctor's or nurse's 
intuition to diagnose potentially fatal conditions.
    Ethan's story exemplifies the importance of comprehensive newborn 
screening, and The Newborn Screening Saves Lives Reauthorization Act 
will help ensure that infants throughout our Nation are screened for 
treatable conditions--like Ethan's--at birth.
    I urge all members of the committee to support this legislation and 
I sincerely hope it will be passed by the full Senate this fall. &
    Thank you for listening to my story today, and may God bless you.

    Senator Hagan. Thank you, Mrs. Mullis, and thank you Jeremy 
and Ethan for being here today, and thanks for your personal 
experience of how important newborn screenings really are to 
each and every family who has a child.
    The hearing record will remain open for 10 business days 
for the Senators to submit questions.
    So we are going to go ahead and start with the questions 
now, and let us just do a round of 5 minutes, and then we can 
continue.
    Mrs. Mullis, I wanted to ask you a question and just thank 
you so much for sharing your story and Ethan's story. We are 
glad to hear that he is now a happy 4-year-old, experiencing 
all the things, as you said, from bugs, and cars, and trains, 
and planes.
    You noted earlier in your statement that your physician 
detected noncritical birth defects during your pregnancy. I am 
curious if, at that point or later during your pregnancy, if 
your physician or any other healthcare provider, shared 
information with you about newborn screening? And if not, is 
that information that now, looking back, you think you and your 
family would have found helpful and/or comforting?
    Mrs. Mullis. Sure. The physician took us through all the 
details of those two birth defects. He assured us that Ethan 
would be screened at birth. At that time, pulse oximetry was 
not mandated by North Carolina, so that was hospital-specific. 
And so, he did not share that specific test with us, but did 
inform us that he would be well checked and looked over after 
his birth.
    Senator Hagan. I know how important it would be, I would 
think, for pregnant moms to understand newborn screening. I 
think one of the questions we have is: how much of that is 
actually being done in the offices?
    One other question, since Ethan was born, as you said, 
North Carolina has required the pulse oximetry testing for all 
newborns in the State to detect these critical congenital heart 
defects like the one that Ethan had. I understand that you have 
been active in the community, and that you have been meeting 
with other parents whose children might have a heart defect or 
other condition detected from the newborn screening.
    Can you share with us what mandating the CCHD screening, 
and/or not letting it remain optional, has meant for other 
parents in the State that you have spoken with?
    Mrs. Mullis. Absolutely, and your question is very timely.
    I just learned of a family in North Carolina--two families 
actually--who, since the screening of their babies, have been 
screened at their community hospital. Congenital heart defect 
was detected right away, and the baby was able to get to a 
larger hospital to receive the care that he needed.
    So it is already making a difference in North Carolina, and 
I am very honored to have played a small role in that.
    Senator Hagan. Thank you.
    Miss Bonhomme, as director of Baby's First Test, you are 
regularly engaged in trying to educate parents who may not know 
much about newborn screening.
    What are the most common misperceptions that you encounter 
from parents about the newborn screening system? And are there 
education efforts targeted for specific communities that we 
know have a higher incidence of conditions that would be 
detected by newborn screening? For example, we know that sickle 
cell anemia is obviously prevalent among African-Americans, and 
that certain heart defects are more common in certain areas of 
Alaska.
    Can you just go over some of the kinds of questions and 
educational issues that you encounter?
    Ms. Bonhomme. Absolutely. One of the main questions that we 
receive about newborn screening is, first, why they did not 
hear about it earlier. Parents always wonder,

      ``Oh, why did I not hear about this when I was planning 
my pregnancy, or when we were talking about all the different 
screenings that were going to take place? ''

    You hear about breast feeding. You hear about all these 
other activities that take place in that first few days of 
life, but oftentimes, parents do not hear about newborn 
screening.
    In terms of programs targeted toward specific communities, 
there are a number of different activities, both at the State 
and national level to target those different communities. One 
activity that actually Baby's First Test is helping to fund is 
a PSA in the Atlanta region targeted toward African-American 
families about newborn screening and to make sure they know 
what their status is, particularly their sickle cell status, 
but also wrapping newborn screening into that.
    I know that in Alaska, there have been efforts to create 
some DVD's so that the local birthing centers there can show 
information about newborn screening, and the particular 
conditions that affect that particular population.
    Senator Hagan. Thank you.
    Senator Enzi.
    Senator Enzi. Thank you, Madam Chairman.
    And for the Mullis family, I cannot even imagine what you 
have been through. My wife and I had a daughter that was born 3 
months premature, and so we went through some of those daily 
ritual things.
    But something that is much more common is the doctor 
talking to you about something as simple as a tonsillectomy and 
explaining that there is no problem in 99.9 percent of the 
cases. And you think, ``But what if I am the \1/10\th? It is my 
kid's life.'' So thank you for sharing your story. It makes a 
tremendous impact.
    I would like to ask Dr. Howell about this legislation that 
has been introduced by the Chairman and Senator Hatch. It has 
new timelines for that Advisory Committee to be able to review 
the evidence for the new conditions under a priority review 
status, and has shorter deadlines for the Secretary to adopt or 
reject the recommendation of the Advisory Committee.
    Can you explain why these new timelines are needed and 
would be helpful, and whether you think they improve the 
process of evaluating the conditions nominated for screening?
    Dr. Howell. Thank you, Senator Enzi.
    I think that the timelines are introduced, basically, to 
try to ensure that the process goes forward briskly. 
Particularly, for instance, when a drug has been approved for a 
condition such as a newborn screening condition, we think that 
the FDA has reviewed that and has proven that it is a valuable 
drug. And so, we think that the evaluation of newborn screening 
should proceed quickly and perhaps a little more rapidly than 
we would like.
    I think in newborn screening, it is very interesting, we 
are always working on a short timeline because the conditions 
that we are looking at and screening for commonly are fatal 
conditions. So any delay that we see that we have, we are 
losing lives, and so, we really would encourage that.
    I think that the timeline, I have looked at them pretty 
carefully. They are aggressive; I agree with that, but I think 
on the other hand, they clearly can be accomplished.
    I think the one thing that will be important as the 
community works on this legislation is to ensure that the 
committee has adequate resources to do the evidence reviews; 
the evidence reviews are expensive. And so, if we have a couple 
of conditions that need rapid review, we need to be sure that 
the funding is there to have the evidence reviewed. But I think 
that in the bureaucratic world we live in, we want these 
conditions to move rapidly, and I think the advantage of having 
timelines is great.
    The Secretary is always very busy, as you obviously know, 
and there is a timeline. During the latter portion of my time 
as chair of the committee, having the Secretary have timelines 
to respond to the committee was effective; we got letters back 
more quickly.
    So I think they are realistic. I think that they will 
require a little effort, but I think that is fine. I think it 
is a good idea.
    Senator Enzi. Thank you.
    Dr. Howell. And let me add one other thing.
    Senator Enzi. Sure.
    Dr. Howell. I think the fact that you do have these 
timelines, I believe it will encourage the person making 
nominations to be a little more complete and a little clearer 
so they know that they can go quickly rather than having a lot 
of loose ends out there. It is a good thing to do.
    Senator Enzi. Thank you. Does anyone else want to comment 
on that?
    So we will move to the science of genetics, which is one of 
the more rapidly changing fields of research in the United 
States. Scientists and researchers are learning more and more 
about the code that makes each of us who we are. To that end, 
the field of genetic medicine is also continually evolving and 
innovating, and the Newborn Screening Saves Lives 
Reauthorization Act does include a new priority review pathway 
that we have just talked about for the Advisory Committee to 
review conditions for screening where there are pending 
applications for new drugs or breakthrough therapies.
    You talked about it a little bit already, Dr. Howell, but 
can you discuss the significance of the new pathway in terms of 
medical research into treatments for these conditions? What are 
some of the new things that are coming down the road that we 
may not know about and how that will affect the development of 
the new therapies for these conditions?
    Dr. Howell. Let me elaborate just briefly on the two 
conditions that I quickly passed over and so forth.
    Duchenne muscular dystrophy is a condition that many people 
are aware of. It affects boys. It is a devastating disease. We 
have known about it for a century, and we have actually known 
the genetic defect for 20 years; it is a genetic absence of a 
protein. But it has been really tough to figure out how to get 
that protein back, and there are all sorts of studies going on.
    But there is one study going on using antisense 
oligonucleotide--a very unfortunate long term--but basically 
that is a compound that attaches to the DNA, and where you have 
a deletion or an absence of a portion of the DNA, you have 
these special compounds that basically jump over these 
deletions. It is like a bridge; so you have a part of the gene 
here, you have a deletion/a hole, and then you have the rest of 
the gene. And so these drugs that are antisense 
oligonucleotides have some very encouraging results.
    We really would like to be certain of that as we move 
ahead. There is a lot of conversation between the people doing 
newborn screens to people working on drugs, and that is 
encouraging this bill. The FDA would be working with the 
committee so the drugs are coming.
    If a drug indeed does show great results, and is 
lifesaving, it would be very important for that newborn 
screening program to be rapidly moving ahead. In other words, 
you have a new drug. It is lifesaving. You do not want to sit 
and think about it for a long time. You want to move quickly. 
And so, I am a big advocate of that, and I think it makes 
sense.
    And the number, there are similar drugs for spinal muscular 
atrophy that are very exciting. Again, spinal muscular atrophy 
is the most common fatal neurologic disease of childhood; a 
devastating disease. Again, encouraging and exciting results 
are out there. And we want to be ready to take care of them 
once these drugs hit the market.
    Senator Enzi. Thank you for your ability to explain 
something very difficult very well.
    Dr. Howell. I expect you will be explaining antisense 
oligonucleotides now to your colleagues.
    [Laughter.]
    Senator Enzi. And talking about SCID's. Thank you.
    Senator Hagan. I am glad that Senator Enzi is going to be 
doing that explanation.
    [Laughter.]
    Dr. Howell. Well, you are going to be busy talking about 
SCID, right?
    Senator Hagan. Senator Casey.

                      Statemenet of Senator Casey

    Senator Casey. Thank you, Madam Chair.
    I want to thank you for calling this hearing and grateful 
that you and Senator Enzi are here with us today to talk about 
what is such an important issue, but sometimes an issue we do 
not spend enough time on.
    I will have a longer statement for the record, and I will 
pose a few questions here.
    Dr. Howell, some of your testimony reminds me of a story, 
but I want to first thank all of our witnesses, especially Mrs. 
Mullis, for taking the time to be here, and to being not just 
an advocate, but a personal witness to how important newborn 
screening is, and how important it is to reauthorize the 
legislation.
    Dr. Howell, I am sorry I missed your testimony, but we are 
lucky to have a copy of all of your testimonies. Dr. Howell, 
when you said in the second paragraph of your testimony about 
PKU and how a lot of these screening efforts started as long as 
50 years ago, you said that,

          ``Children with an inherited condition known as PKU, 
        if untreated, have profound developmental delay with an 
        average IQ of less than 20. This means that such 
        untreated children, who have a normal life-span, are 
        unable to speak or care for even simple needs and 
        require full-time care. They are robbed of many of 
        life's opportunities.''

    That was your testimony, and it just so happens that I have 
a little bit of a personal connection here. My father was a 
State senator in the early 1960s in Pennsylvania--I know that 
now U.S. Senator Hagan was a State senator at one point in her 
career--but he saw this information that was available at that 
time. This would have been, for him, 1963 or 1964. He had a law 
passed in the senate of Pennsylvania which at least led to a 
new policy as it relates to children in Pennsylvania. Just a 
very inexpensive screening at the time would save a lot of 
lives.
    I will put in the record his recollection of that. I will 
not go into that today, but he passed away more than 13 years 
ago. So I want to, as we are paying tribute to our panel and 
all those who are great advocates, I want to pay tribute to him 
and put a reminder in the record, which I will include in my 
statement for the record.
    But I wanted to ask about one of the challenges we still 
have with all of the Internet access, all of the technology 
that is available to folks. We know in just the last couple of 
days, we have reports about folks who do not have regular 
access to the Internet.
    Miss Bonhomme, I wanted to ask you about if we are focused 
on Baby's First Test and the work that you are doing that 
relies on Internet access to disseminate information, what 
steps have been taken to ensure that parents who lack reliable 
Internet access, that they can also obtain this information?
    Ms. Bonhomme. I thank you for that question, Senator.
    While Baby's First Test has a very public, online presence, 
we also do a number of locally based, community-based 
activities. So we have a series of challenge awards that really 
are targeted toward where there are educational gaps, and not 
having Internet access or reliable Internet access is a great 
gap that a number of our citizens are faced with. So we do 
invest in that fashion.
    So we will partner with community-based organizations to 
make sure that they can disseminate information and we have had 
programs who have gone and worked with their local public 
library system to make sure that there is information there. 
But really, we partner with communities so that they can say, 
``We know that there are a lot of moms and families that go to 
this particular part of town,'' for whatever reason, oftentimes 
it is a library or a church. ``Let us make sure we have 
materials there.'' So we really do try to address that issue of 
not having a lot of Internet access.
    We also work with State public health departments who 
oftentimes have access to being able to provide materials in, 
let us say, in the bag that goes home with the mom at the 
hospital. We partner with them to create materials that will go 
in there, so that there is something--either a little postcard 
or a handout--that they can refer to when they go home after 
the birth of their child.
    Senator Casey. I appreciate that. I know my time is running 
out, but let me take one more for Dr. Howell while we have a 
couple of minutes.
    I wanted to ask you about the fact that we have had States 
taking action over time; I mentioned what happened 50 years ago 
in Pennsylvania. But when States are making decisions about 
these issues about screening, what factors that you can 
identify, what factors might lead a State not to screen for a 
particular illness that the Advisory Committee recommends 
screening for?
    Can you shed some light on the determinations they make or 
what goes into that?
    Dr. Howell. Every State has an advisory committee that 
advises the State health department on newborn screening and 
they basically will look at a recommendation that comes from 
the committee.
    One of the things that has been extremely gratifying to me 
is that since the committee has been established, it has very 
broad representation and a tremendous number of experts, public 
members, scientists, ethicists, et cetera. When that committee 
does a detailed evidence review, one of the things that has 
been exciting is the States have looked at that and have 
overwhelmingly adopted it, which has been very gratifying.
    I might point out that adoption has not been out of the 
blue. It has been helped tremendously by advocates, the March 
of Dimes being a leading advocate in the State. But 
fundamentally, the advocates in the States now have an absolute 
criteria to go on.
    Virtually all the recommendations have been adopted, but 
occasionally, some recommendation will come down and the State 
will decide, ``Well, this would be very difficult for us to 
do,'' et cetera. But again, I think that even when they 
initially decide not to do it, they do move along and do it.
    I would like to comment briefly also that when the 
committee has recommended the implementation of what I would 
call a rather complicated new technology such as Severe 
Combined Immunodeficiency, or SCID, where you are looking at a 
test that is new, the committee had recommended and the NIH had 
funded, a national pilot program.
    So you tried it in three or four States, et cetera, and did 
a lot of babies to see how it worked: what are the problems out 
in the field? That has also been invaluable. If you look today 
at what is happening, still States are implementing Severe 
Combined Immunodeficiency and States are starting to implement 
critical congenital heart disease.
    In the State of Florida, for example, Florida is in the 
process of implementing the cardiac screening. But again, to 
get that going, they need to meet with the various people 
around the State and decide exactly what is going to happen 
when a baby in Pensacola needs to be followed up. And so, you 
have organizational changes and so forth.
    But there will always be a committee that will say, ``No, 
we are not going to do this,'' and so forth, but that is rare 
and it has been the exception.
    When the committee was first established, and I had the 
privilege of working with it, a number of colleagues, 
thoughtful colleagues said,

          ``I do not know why you are going to waste your time 
        on that because you are going to sit in Washington, you 
        are going to make all these wonderful recommendations 
        with all these very bright people, and the people are 
        not going to pay any attention to it.''

    That did not happen largely because of the advocates that 
basically once the data were available, they made it happen.
    Senator Casey. I want to thank the panel and the advocates 
who are here with us today, and others like you, for bringing 
light to a terrible darkness, and we are grateful for the time.
    And Madam Chair, thanks for another 3 minutes and 30 
seconds.
    [The prepared statement of Senator Casey follows:]

                  Prepared Statement of Senator Casey

    Thank you Senator Hagan for holding this hearing today.
    Providing the foundation for our children to lead healthy 
and productive lives is the most important thing we can do for 
our children. More than 1 in 300 newborns have a condition that 
is treatable through newborn screening. This means that the 
newborn screening system plays a vital role in ensuring that a 
multitude of diseases are caught early, when they are easier to 
treat. My office has heard from constituents who have 
benefited, or whose children have benefited, from newborn 
screening. Children's lives have been saved and greatly 
improved because medical conditions were promptly identified.
    The newborn screening system in our country has developed 
over the past 50 years thanks to the vision and hard work of 
countless researchers, medical professionals, and patient 
advocates. The Newborn Screening Saves Lives Act in 2008 was a 
crucial step forward for that system. I am proud to have 
cosponsored that legislation, especially in light of how 
standardized newborn screening has become since its passage. A 
decade ago, the newborn screening system differed significantly 
from State to State. Today, as noted by one of this panel's 
witnesses, 100 percent of U.S. births were screened for over 30 
conditions at the end of 2010. The additional resources and 
access to information provided by the Newborn Screening Act 
helped make this progress possible.
    Although individual States must maintain flexibility to 
address their own needs, we must also work to ensure that 
children born in different States do not have substantially 
unequal access to medical screening. The death of any child is 
a tragedy, but there is no death more heartbreaking than one 
that could have been prevented by a simple screening test 
followed by prompt treatment.
    The Advisory Committee on Heritable Disorders in Newborns 
and Children provides all States with accurate, scientifically 
based recommendations for their newborn screening programs. The 
Newborn Screening Act took the important step of codifying this 
committee, and the reauthorization bill that Senator Hagan has 
introduced will help to improve and streamline the process 
under which it considers conditions for the Recommended Uniform 
Screening Panel.
    I happen to have a personal connection to this subject. My 
father was a Pennsylvania State Senator in the early 1960s when 
he heard that a test was available to diagnose children with 
phenylketonuria, or PKU. I would like to enter into the record 
an excerpt from his memoir, detailing his successful efforts to 
mandate a State test for PKU:

          My first cause as a State senator was helping 
        children. Shortly after taking office, I heard about a 
        problem known at the time as PKU. It was an acronym for 
        the long, clinical name of a birth defect which 
        prevented an infant from metabolizing certain foods, 
        including milk. Undetected, the ingestion of such food 
        would cause normal babies to become [intellectually 
        disabled]. For some reason the State of Pennsylvania 
        had no law on its books requiring the simple test 
        needed to detect the presence of PKU. Once detected, a 
        simple change in diet could correct the problem. Babies 
        throughout Pennsylvania who might have been spared were 
        instead being born with that defect going undetected.
          The test cost practically nothing, I learned. So why 
        weren't we requiring it by law? It did not strike me as 
        a complex problem. So we passed a simple law--just a 
        few lines on paper--requiring that Pennsylvania's 
        babies be given the PKU test. Thirty years later I 
        still count it as among the best things I ever did. A 
        simple change in diet can protect a child from a 
        lifetime of [intellectual disability], thanks to the 
        passage of that simple law. I remember reading a small 
        article a few months afterward about the first baby who 
        had been found in Pennsylvania with PKU since the new 
        law had taken effect. A healthy, beautiful baby, saved 
        from [intellectual disability].

    We have made too much progress over the past 50 years to 
stop now. We must continue to invest in our newborn screening 
system, and we must continue to support groundbreaking new 
research at institutions such as the NIH. I look forward to 
continuing to work with Senator Hagan and the other cosponsors 
of the Newborn Screening Saves Lives Act to ensure that we are 
building on the success of this program.

    Senator Hagan. Any time. Thank you. Thank you, Senator 
Casey.
    This is a question for Dr. Howse and Miss Bonhomme about 
babies born outside of the hospital setting. While most babies 
are born in hospitals today, some parents do choose to have 
their babies born at home or in other settings. In fact, since 
2004, I understand that the rate of births occurring at home 
has risen nearly 30 percent in the United States.
    These newborns and their families should not miss out on 
the lifesaving opportunities presented by screening just 
because the provider setting in which they are born is not in 
the hospital.
    Dr. Howse, can you tell us how the newborn screening system 
covers babies that are not born in a hospital and does that 
occur?
    Ms. Howse. Well, I am going to defer to my Baby's First 
Test colleague for the particulars of outreach.
    The quick answer to your question is it is really very 
unfortunate for any of the babies who are born at home not to 
have a link into the hospital so that those tests can be taken 
care of. I think in many cases, there is active partnership 
between the home birth attendant or the midwife. There is 
active partnership with an obstetrician and with a nearby 
hospital so the baby can be brought in and be tested. You know, 
it is quite important that that happen in the first 48 hours. 
The first 24 hours would be even better. So I think the problem 
is recognized and there are bridges for outreach and connection 
of the baby.
    But clearly you put your finger on a potential problem and 
that is the babies that are born at home that do not have that 
kind of linkage and they go without testing. And it is 
something that we need to continue to be very vigilant about.
    Thank you.
    Senator Hagan. Miss Bonhomme.
    Ms. Bonhomme. Great. Thank you for that question.
    We have done a lot of work to really try to understand, 
yes, most babies are born in the hospital setting, but what 
about all the other babies that are born? And we have done a 
lot of work with nurse midwives to understand both how do they 
do newborn screening and it really does depend on the State.
    In some States, the midwife can actually do the filter 
paper blood collection, and they will do it, and they are kind 
of that link. In other States, the family will go and see the 
pediatrician at 48 hours at their very first pediatric visit. 
But it does vary by State.
    One thing that we have done is really to understand what 
are the perspectives of nurse midwives in terms of newborn 
screening because that is going to tell us what they are saying 
to the families whose babies they are delivering.
    We have actually done focus groups with birthing centers 
here in Washington, DC to get a better sense of what their 
educational needs are. Generally, it is just that they know 
that newborn screening is supposed to happen. They know they 
are supposed to collect this blood on this filter paper, but 
they are not exactly quite sure why, or where the information 
goes, and all of that.
    It is one reason that Baby's First Test--not only do we 
educate parents, but also all those health professionals, 
including nurse midwives because they are a very strong link 
between families and this public health program.
    Senator Hagan. Dr. Howell, if these children are not born 
in a hospital setting, and if a midwife does the test, what is 
the best time to actually do that test? Can it be done right 
after birth?
    Dr. Howell. It should be done and we recommend between 24 
and 48 hours.
    Senator Hagan. But it could be done at like 2 minutes.
    Dr. Howell. It should not be done at 2 minutes.
    Senator Hagan. That is what I thought.
    Dr. Howell. In other words, most States quite properly, if 
a test is done within the first 24 hours will require a repeat 
because there are so many changes happening that soon after 
birth, so that that would be early.
    And I think as Jennifer and Natasha have pointed out, many 
of the midwives have connections so that the baby might go to a 
site within 24 to 48 hour. They should not be delayed because 
certain of the conditions that we screen for, notably 
galactosemia, you need a very rapid diagnosis and to delay for 
a week is much too late. You like to have the data back to the 
baby in under a week.
    Senator Hagan. Miss Bonhomme, in your example, the midwife 
would have to either come back or the child would have to be 
taken.
    Ms. Bonhomme. Right. And oftentimes, the midwife is already 
planning to come back to visit the family. They will do the 
delivery, and leave making sure everything is OK. But then the 
next day, they will come back, particularly in rural areas to 
make sure that everything is still going along as planned.
    Because of that, it is pretty easy to be able to fit it 
into the already scheduled appointments, if you will, with the 
midwife.
    Senator Hagan. Thank you. Thank you.
    The Newborn Screening Saves Lives Act put into law 
significant support for the Nation's newborn screening system 
including grants to expand State programs, technical 
assistance, and quality assurance for State labs, and then 
researched into additional conditions that may be screened by 
the States.
    Authorization for these programs expires at the end of this 
fiscal year, which is next Tuesday. Senator Hatch and I 
introduced a bill in July to reauthorize and make important 
improvement to this law, which is what we are talking about.
    Aside from the changes included in our bill, Dr. Howell, 
Dr. Howse, Miss Bonhomme, can any of you describe generally 
just a statement or so about why this reauthorization of this 
law is so important?
    Dr. Howse.
    Ms. Howse. Yes, first of all, I thank you very much for 
that excellent question.
    I really want to underscore the importance of the deadlines 
that are in the law, the timelines for the action by the 
Secretary's committee because you heard Dr. Howell speak very 
eloquently about the successful candidates out of the discovery 
pipeline. Those need to be linked very quickly with the process 
that is put together by the Secretary's committee so those 
recommendations can be quickly evaluated and responded to by 
the Secretary, and States can get that information quickly. So 
I think that is a very, very important part of the bill.
    Then simply to continue the programs that are established. 
They are good programs. They are well-formed; they are well-
accepted by States. They allow for the continual improvement of 
newborn screening. The various parties accept the way the 
program works as a Federal-State partnership. So I think we 
should take the program that is well working and continue it in 
an uninterrupted fashion.
    We are very concerned about the potential for interruption 
in a program that has a lot of moving pieces, but the pieces 
are a well-connected through the legislation. This is a proven 
program. So we are very, very concerned, really. We so 
appreciate your effort, and we are just very concerned that the 
program continue in an uninterrupted fashion.
    Senator Hagan. Dr. Howell.
    Dr. Howell. I think several things that we might comment 
about is that the States are always very, very squeezed for 
funds. I think that the funding for the States to add and 
innovate is really very important, and without the legislation 
that is not going to happen. The State labs tend to not have 
new money, and so they are conditioned to be added, and so that 
their resources are tremendously stretched. So this is really 
very, very important.
    Other things that are in the legislation, that are really 
critical to making the whole system work, is that the new 
legislation requires that the committee meet at least four 
times a year and at least two of those meetings must be in-
person. I think the meetings of this committee are very 
essential to be in-person because when they are in-person, it 
provides an opportunity for a variety of people, advocates and 
other people, to come and talk to the committee, and that makes 
a huge difference. So I think that the requirement of meeting 
in-person and having four meetings a year to move things along 
is really essential.
    Again, the research efforts are just so important. There 
are so many. For example, some of the conditions that we can 
screen for, we do not really have very effective treatments 
for, and we will not get those treatments without NIH funding. 
It has just got to be there. Again, HRSA is responsible for 
supporting this committee, and they need to have the money to 
do evidence reviews. So I think that the whole spectrum of 
things that are included in this bill are just absolutely 
essential.
    The United States is unquestionably the world leader in 
newborn screening and that is a great thing to brag about, but 
it also means that we are saving lives in the United States. 
And without this legislation, we cannot continue to be that.
    I think that those would be a quick summary of why we 
should really urgently pass this legislation.
    Senator Hagan. Thank you.
    Miss Bonhomme.
    Ms. Bonhomme. The issue with going last, everyone has hit 
all the key points very nicely, but what I will say is that 
while newborn screening is a State program, the funding at the 
State level is still limited, and this reauthorization would 
really allow the national dialog around newborn screening to 
continue.
    Oftentimes States do not really have enough money to even 
do all the educational efforts that they would want to that 
today we have talked about are so important. Being able to have 
the reauthorization will allow for the programs, such as Baby's 
First Tests, but also the evaluation programs that fall 
underneath the law to continue to go further. That is really 
key because if there is a disruption in that, we really will be 
lost. We will lose data and potentially lose lives around that. 
So this reauthorization is really key.
    Senator Hagan. Mrs. Mullis, you and your family have 
personally experienced the fact that newborn screening does 
saves lives. Do you have any comments you want to share on this 
reauthorization?
    Mrs. Mullis. I would just like to reiterate what the rest 
of the panel has said. I feel that it is very urgent so that 
the conversation can continue.
    I cannot speak enough to how important this is to our 
family. We were very fortunate that we were in a place, in a 
hospital that had the capability to do this. We are between 
Duke and UNC. We have a lot of very good medical professionals 
in our area. So the newborn screening was talked about and 
shared with us when we first found out about Ethan's original 
birth defects, not including his heart.
    I just feel very strongly that other families and other 
babies should be afforded that same opportunity.
    Senator Hagan. Thank you. Thank you.
    Let me talk about the financing of newborn screening. I 
understand that screening programs, and obviously we have heard 
in the testimony it varies from State to State, but I think one 
of the questions that parents may have about newborn screening 
is whether they will be able to pay for more tests or whether 
the baby will not be tested if they do not have health 
insurance.
    Can the panel, can you explain how most State newborn 
screening programs are financed and whether the insurance 
status of the parents has any effect on whether the newborns 
are screened?
    I know that in North Carolina, the screening fee is $19. In 
Wyoming, the fee is $70 and in Utah, the fee is $103. The 
amount of the fees varies widely from State to State. Are the 
newborn screening fees set by each State and are they typically 
covered by insurance?
    Miss Bonhomme.
    Ms. Bonhomme. Sure, I will start with that.
    Senator Hagan. Obviously, when you look at these fees 
compared to any sort of treatment, we know that the screening 
must take place.
    Ms. Bonhomme. Correct. Each State determines its own 
newborn screening fees. I think a lot of that plays into the 
lab and what tests are included.
    Now, one thing that we make very clear to parents is even 
if they do not have insurance, they will be able to get newborn 
screening. That is something that when we were building Baby's 
First Test, and asking about information about fees and putting 
that on the Web site, every State that I spoke to said,

          ``Please make it clear that no matter what the dollar 
        amount we list, we will find a way to cover the newborn 
        screening for each baby.''

    So typically, there are the fees that we mentioned, but 
also some States have a fund that comes from different taxes 
that help support the newborn screening program.
    Dr. Howell. It is a potpourri of funding and it is very 
interesting. Some States do not charge anything. For instance, 
New York State pays for its entire newborn screening laboratory 
out of general funds and a variety of things. But it is the one 
program that I can point to that is universal. It is a public 
health program and every baby is screened regardless of the 
ability to pay.
    The way it works in most States that charge a fee is that, 
let us say, you are born at a given hospital, the hospital 
receives a bill, and they then decide how they get the money. 
The patient ordinarily does not, out of his or her own pocket, 
pay any of those fees.
    Newborn screening is arguably the best bargain in the 
United States. It is estimated that it costs a little over $100 
to do the initial blood spot and the initial screen, which 
means that the total program in the United States costs a 
little over $400 million a year.
    Now you say, ``That is a lot of money,'' and it is a lot of 
money, but it is less than what we spend in 1 week on drugs for 
hypercholesterolemia to put things in perspective, so it is an 
enormous bargain. And again, all babies will get screened 
regardless of their ability to pay, and so that is something. 
It probably is the only healthcare item I can think of that you 
can say that about. There may be others, but it is certainly 
fairly unique.
    Senator Hagan. Dr. Howse.
    Ms. Howse. Just connecting that to a question that Senator 
Casey had asked about why States might not have the full panel 
in place or why there might be delays when a new condition is 
recommended. Well, part of that does tie to the question of 
funding because it costs additional resource to implement a new 
test. To add that to the laboratory's responsibility, to make 
sure that the followup and specialty services are in place, et 
cetera.
    But the bottom line is that the burden does not come to the 
families. States have a number of methods about how they pay 
for newborn screening. Many of them now have special funds that 
are a combination of fees and money that is appropriated by the 
legislature. I would really commend the States, Senator, for 
the manner in which they have determined how they are going to 
put together the funding packages to make this program work.
    I think that despite enormous pressures that have faced the 
States, State legislatures, and Governors, they have gone to 
great lengths to make sure that this program is in place, that 
it expands properly when new screening conditions are 
recommended, and that the burden does not fall to families.
    Thank you.
    Senator Hagan. Miss Bonhomme, in your testimony, you stated 
that parents expressed a desire to learn more about newborn 
screening earlier in their pregnancy, but that most parents 
actually do not remember getting that information.
    What are the basic things that you would advise parents 
that are expecting to do during the prenatal period to actually 
learn about or to prepare for the newborn screening?
    Ms. Bonhomme. What we have heard from parents is that they 
do not want to hear about newborn screening after the fact. 
They want to feel that they are a part of the health decisions 
around their baby even before the baby is here.
    So we really do encourage parents to ask their doctors, 
either ask their prenatal physician or a prenatal nurse. Also a 
number of people speak to the pediatrician before the baby is 
born, so really bringing it up in that initial meeting with the 
pediatrician to see, ``When will I hear about the newborn 
screening results? '' those types of key questions so that they 
can start the dialog early.
    A lot of times we are all busy, including physicians. But 
it really is, if parents know the right questions to ask, they 
can put it on the radar of their health professional and start 
the dialog early.
    Senator Hagan. We talked a little bit about some of the new 
technological developments. Originally, it was the development 
of the dried blood spot test that allowed us to engage in the 
newborn screening in the first place which, to me, is just an 
outstanding scientific feat.
    But then the development of the tandem mass spectrometry 
has allowed us to significantly expand the number of conditions 
that can be screened. And then the use of the DNA extraction 
and molecular testing has greatly improved the accuracy of 
newborn screening, as well as made the screening of these new 
conditions possible.
    You have covered some of this, but if you could expand on 
some of the other new technological developments that you think 
are just over the horizon. How will they shape the future of 
newborn screening? And as the Secretary's Advisory Committee, 
NIH, and the medical community, how they consider the 
implications of the new technological advancements like whole 
genome sequencing. Will there be formal opportunities for 
parents' voices to be heard in those debates?
    Dr. Howell. Tandem mass spectroscopy has, of course, been 
the hallmark of the technology that has permitted us to expand. 
And again, this technology continues to be very useful and 
there are other things you can do. In other words, you get 
many, many compounds at once.
    But I think that the technology that is on the horizon that 
will be shaping the future is whole genome, whole exome 
sequencing.
    Senator Hagan. What was the other one?
    Dr. Howell. Whole exome or whole genome, in other words, 
with exomes you look at the active part of the gene and when 
you do the whole genome, you look at every little base pair. 
And so, most of those studies will be looking at the functional 
genes or the exome.
    The National Institutes of Health has recently awarded four 
grants that look at the impact of whole genome, whole exome 
sequencing on newborn screening. And you can get out of the 
dried blood spot, you can extract a sample of DNA that is 
adequate enough to look at the whole exome or the whole genome.
    This will be, indeed, an extremely powerful technology as 
far as the ability to look at conditions that we currently do 
not screen for, because you will be able to look at any gene of 
interest, et cetera. I think that that technology will clearly 
be a driving force of the future.
    Now, the question of will folks have an opportunity? All 
four grants that the NIH has recently awarded has a required 
section within them on the ethical, legal, and social issues of 
this technology. So that all of those grantees--be it at the 
University of California San Francisco, Chapel Hill, or 
Missouri, et cetera--they will all be having very careful looks 
at the ethical, legal, and social aspects of using this 
technology in newborn screening.
    I think the technology will be extremely important in 
helping us understand some of our newborn screening findings. 
For example, when we have a baby born with certain conditions 
like Krabbe Disease, for example, one of the conditions 
screened in New York State, you have a low enzyme activity on 
the blood spot. But you cannot predict reliably whether that 
baby is going to have a really serious outcome or not so bad. 
And by looking at the whole genome, in other words you 
basically are looking at the whole environment.
    By looking at the whole genome, the whole exome, you are 
going to be able to decide, ``Well, goodness. I think this baby 
is going to do pretty good.'' Or, ``We have some really serious 
problems.''
    I think to answer your question, the whole genome, whole 
exome sequencing will be the wave of the future. It is just now 
in some important pilot studies recently funded jointly by 
Child Health and the Genome Institute, and all of those have 
big time efforts to look at the implications for the family, 
and the community, and the public at large. And I think there 
will be tremendous care exerted as such technology advances to 
the public.
    Senator Hagan. Thank you.
    I was pleased to hear that UNC Chapel Hill also got one of 
those grants too, to be a part of this study.
    Dr. Howell. Yes.
    Senator Hagan. Before I became a U.S. Senator, I served on 
the ethics committee of a local hospital. And so I have been a 
witness to many discussions within family members on issues 
concerning many of the ethical concerns in a hospital setting. 
So it is something that, I know, will be quite a bit of 
research, scientific, and ethical debate.
    Dr. Howell. Those are very important debates.
    Senator Hagan. They are. They are very, very important.
    A question on followup assessment. This bill expands the 
scope of the current HRSA grants to ultimately ensure that 
followup care for newborns and families occur.
    Dr. Howse, Dr. Howell, can you describe what the 
appropriate followup care from a nurse or a doctor receiving 
the newborn screening results should be, and what the common 
gaps are in providing the followup care?
    Ms. Howse. I will make a couple of overview comments and 
then invite my colleague, Dr. Howell, to speak very 
particularly about pediatric care.
    The key in newborn screening is that this is a program for 
which a test is linked to an effective treatment. That is 
really the heart and soul of the program. A test is linked to 
an effective treatment. And there is urgency, there is a great 
deal of urgency in terms of timely intervention and timely 
treatment for those newborns. The key to followup is rapid-fire 
notification between the lab, the parents, the hospital, and 
the physician of record.
    Often there are challenges when a baby is released from the 
hospital to make sure that pediatric care is immediately 
available to the child. So that is why there is an emphasis in 
the bill, because that was sensed as an area that needed to be 
strengthened, frankly.
    One of the key questions has to do with the parents' 
ability to be connected to a primary physician, a pediatrician, 
and how that gets managed between the time of release from the 
hospital to the parents going back home. Insurance coverage 
matters, whether the parents have Medicaid or some other form 
of insurance. There have been, frankly, some issues there about 
continuity of care. So I do think that is an area that we need 
to look at.
    From a clinical standpoint, though, I would really invite 
Dr. Howell to speak about how that connection gets made and how 
vital and important it is.
    Dr. Howell. Let me make a couple of comments--the followup 
starts with the initial test. And what happens is that the 
State laboratory has an abnormal test that they confirm in the 
lab and so forth. They contact the primary care person who is 
usually a pediatrician or a family practitioner.
    The initial problem at that point has been addressed fairly 
aggressively because of the following problem. Each of these 
conditions is individually rare. So that on Friday afternoon, 
if the lab in Raleigh calls a pediatrician in Cary on Friday--
and this always happens on Friday afternoon about 4 o'clock--
and says, ``We have just had an abnormality in a fatty acid 
oxidation defect like 
Medium-Chain acyl-CoA dehydrogenase.'' And so the pediatrician 
or the primary care doctor probably has never heard of this 
condition. It would be unusual to have heard of it.
    So one of the things that has been done to do this with 
regard to the panel, every condition on the panel, the American 
College of Medical Genetics has prepared a 1-page document that 
is called an ACT sheet, Immediate Action Sheet and it 
summarizes the name of the condition. It tells what the 
immediate problems are, and what you should do, and it has some 
references. And most State labs now are faxing that to the 
physician at that point so that when he or she calls the 
family, they will have a little bit of information already. 
They will know a little bit about it so that they say, ``We 
need to repeat this.'' So that is the first, immediate 
followup. And then, obviously, depending on the condition, you 
need to institute the therapy.
    The highly specialized therapy is usually coordinated 
through a referral center. For instance, if this baby is born 
in Cary, they would either go to Chapel Hill or to Duke, very 
likely, for followup. And the diet would be instituted and then 
they would be followed up long term with their doctor.
    Some conditions require really aggressive, long continuing 
treatment such as Pompe Disease where you have to have regular 
infusions, and those would also be done.
    Now, the other thing that is in this legislation that is 
very important is that we have never had a systematic way of 
following up data on these children.
    Senator Hagan. Right.
    Dr. Howell. So we do not know a lot about some of these 
conditions except PKU, which had a Federal study.
    So one of the things that is very important is that we 
really need to get more of these babies into followup programs 
so that we enter data on them at 6 months, 1 year so that when 
we come back in 10 years, we can say, ``This is what has 
happened.'' Or, ``We need to do this,'' so you can develop new 
therapies and new modifications.
    But basically, the long-term followup is done, usually, by 
the primary care doctor and in conjunction with a regional 
medical center. And the State laboratories have been very, very 
experienced over the years. They know who to call.
    For example, they will call. For instance, like this baby 
born in Cary that I just brought up, they will also call the 
lab or they will call the places at Duke and at Chapel Hill, 
and give them a heads up that there is a baby in their region 
that will likely be calling, so that they do not drop through 
the cracks. And I might point out the States are aggressive in 
finding these children.
    I began my career at Johns Hopkins near here and the State 
patrol would go out and find a baby if the family could not be 
located because you need to find them and get them in. And the 
States have really been aggressive in discovering these early 
sick babies.
    Senator Hagan. Thank you for that background. I think that 
is very important and it certainly does paint a picture as to 
how the followup is actually done.
    I think what you have stated too is how important the 
provision is in this bill, after 50 years of the screenings, 
that we really do need to have these long-term studies done, 
and followup on the children that have had abnormal screenings 
and, obviously, treatment.
    This is an interesting thought. If Ethan had been born 
during the height of a hurricane, what would have taken place? 
I know that when you look at these natural disasters like 
Hurricane Katrina, what does that do to disrupt the newborn 
screening program?
    The law required the CDC to write a national contingency 
plan with instructions for how to react in those instances. Our 
bill would require that plan to be updated at least every 5 
years because we all know that babies do not stop being born 
just because all of a sudden there is a fire, or a hurricane, 
or a flood, or a power outage.
    So Dr. Howse, do you know how the contingency plan was 
helpful when Hurricane Sandy hit up in the northeast last year, 
and how the affected States were able to maintain their newborn 
screening program?
    Ms. Howse. Well, first of all, every State does have a 
contingency plan in place, and we did not receive any reports 
of interruptions to the newborn screening program in New York 
as a result of Hurricane Sandy.
    We know that many of the medical facilities, particularly 
in New York City, were definitely affected very adversely. But 
there seems to have been a very supreme effort made in New York 
and New Jersey to make sure that vital medical services 
continued uninterrupted.
    We know there were many emergency pregnancy labor and 
delivery situations that were handled. We know NICU babies were 
evacuated often in the arms of their nurses and doctors to be 
brought to more safe and secure locations. We also received, in 
addition to those kinds of reports, no indications that there 
were interruptions in this vital testing and followup. So I 
would, again, really commend the health professionals and the 
officials responsible.
    That being said, no plan survives its first contact with 
reality. So I think it is very important for this provision to 
continually and regularly update those contingency plans, and 
make sure that particularly these babies do not fall between 
the cracks when Mother Nature comes to us in such a difficult 
way.
    Senator Hagan. Miss Bonhomme, do you have any examples of 
actually getting out and speaking with parents that have had 
deliveries during natural disasters?
    Ms. Bonhomme. I have not spoken to any parents directly who 
had experience during the disasters, but I was in quite a bit 
of contact with the New Jersey Department of Health during that 
time.
    And really from their experience, the fact that there was 
this plan in place, which actually forced different agencies to 
speak to each other beforehand and build the relationship 
before there was a disaster. When the Hurricane hit, that 
newborn screening program in New Jersey was able to pick up the 
phone and say, ``Hey, we need help. We need to put this plan 
into place.'' And what actually happened in New Jersey is that 
there were State troopers that went and picked up the blood 
spots from hospitals and brought them to the lab.
    And so I think it is the fact that there was a plan in 
place and people had met each other before. As you know, 
relationships are so important, so that there were these State 
troopers who knew what newborn screening was and why it was 
really important. I think that is just such a great example of 
why having this type of plan in place is so key, and why we 
need to keep those efforts going, and make sure that those 
plans are updated every 5 years.
    Senator Hagan. You know, it is great. I had not even 
thought about such a situation, but obviously, children do 
continue to be born during these natural disasters. So it 
certainly shows the efficacy of planning and then carrying it 
out, and building those relationships that you said. That 
certainly is very worthwhile.
    Before the meeting started, Dr. Howell, you and I were 
speaking about how we are at the 50th Anniversary for this 
newborn screening in the United States. But what are other 
countries doing, looking at what I would call the best 
practices happening in the United States?
    Can you just share a couple of thoughts before we end our 
hearing?
    Dr. Howell. I think that there is interest throughout the 
world, really, at the current time in newborn screening.
    As I mentioned briefly to you in the hall, Europe has been 
really interested in trying to harmonize its efforts between 
the members of the EU, the European Union, and that is even 
more difficult than it is to do between the States.
    But in Europe, there is tremendous variation between the 
countries. You have countries like Austria and Germany that 
have programs that are very similar to ours. The United Kingdom 
has a very modest number of conditions on their program and 
they are very slowly moving ahead on that, but there is 
considerable discussion about trying to move ahead. And in all 
circumstances, they are very interested in how the United 
States has moved ahead and harmonized that. And so, we are 
invited to talk with them.
    I think the National Institutes of Health and some other 
groups have also sponsored some meetings in the Middle East and 
North Africa where newborn screening, for example, is extremely 
well developed in oil-rich countries such as Saudi Arabia and 
Qatar. But in the more modestly funded countries, they have 
very little newborn screening.
    It can be particularly beneficial in many countries of 
Africa because you have a high degree of first-cousin 
marriages. And when you have intermarriage, it dramatically 
increases the frequency of rare recessive conditions. So that a 
condition here that might occur in 1 in 20,000 in a country 
with intermarriage, it might occur in 1 in 5,000.
    So I think that there is a great deal of interest in 
working with these countries to identify important conditions 
that can be identified and treated simply because they also 
lack the infrastructure. So there are a lot of discussions 
there.
    China has a spotted screening program. They, again, are 
trying to move ahead in that. Other places like Australia and 
New Zealand have fairly well developed programs, but there is a 
potpourri around the country.
    I think that one of the interesting things is that everyone 
is interested in what is happening in the United States, which 
is kind of always nice when someone thinks that the United 
States is doing something well.
    Senator Hagan. I think it is important that newborn 
screening does save lives.
    I do think it is really important to reiterate, again, that 
in 2011, the CDC recognized the advances in newborn screening 
as one of the 10 great public achievements in the United States 
during the decade of 2001 to 2010.
    For all of you here today, I really do, in particular Dr. 
Howell, thank you for all the past work that you, and the March 
of Dimes, Dr. Howse, have done to make this such a fundamental 
important health aspect in our country. Then also knowing, we 
have got to build on that. We certainly do need to expand it 
and to get this reauthorization done.
    I want to thank all of you today for your testimony. The 
hearing record, as I stated earlier, will remain open for 10 
business days for the other Senators to submit their statements 
or questions for the record.
    And we will now adjourn this hearing.
    [Additional Materials follow.]

                          ADDITIONAL MATERIALS

      Prepared Statement of Marcia Boyle, President and Founder, 
                      Immune Deficiency Foundation
    Chairwoman Hagan, Ranking Member Enzi and members of the committee, 
thank you for convening this hearing to focus on the importance of 
newborn screening. I submit this testimony for the record on behalf of 
the Immune Deficiency Foundation (IDF). Founded in 1980, the Immune 
Deficiency Foundation (IDF) is the national patient organization 
dedicated to improving the diagnosis, treatment and quality of life of 
persons with Primary Immunodeficiency (PI) diseases through advocacy, 
education, and research. These diseases occur in persons born with an 
immune system that is either absent or hampered in its ability to 
function. These diseases are caused by hereditary or genetic defects 
and can affect anyone, regardless of age or sex. The World Health 
Organization recognizes more than 185 primary immunodeficiency 
diseases. My comments today will focus on Severe Combined Immune 
Deficiency (SCID), one of the rarest and the most devastating of these 
diseases.
    SCID screening in newborns became possible just a few years ago 
with the development of the T-cell receptor excision circles (TREC) 
test that can detect SCID using the same dried blood spot filter cards 
that are currently collected from all babies to screen for a variety of 
inborn conditions. Infants affected by SCID lack T-lymphocytes, the 
white blood cells that help resist infections due to a wide array of 
viruses, bacteria and fungi. These genetic defects lead to extreme 
susceptibility to serious illness. As a result, the condition is fatal 
in infancy unless treated, usually with bone marrow transplantation. 
Transplants done in the first months of life have the highest success 
rate. A survey of more than 150 patients, commissioned by IDF, found 
that SCID patients who were diagnosed early and treated by 3.5 months 
had a 91 percent survival rate; those treated after 3.5 months had a 76 
percent survival rate. If diagnosis is late, even a successful bone 
marrow transplant can still leave a patient with persistent health 
problems.
    IDF was very pleased that Dr. Rebecca Buckley of Duke University 
served on the Advisory Committee on Heritable Disorders and Genetic 
Diseases in Newborns and Children. Dr. Buckley, Chair of the IDF 
Medical Advisory Committee, has spent most of her career addressing 
genetic disorders of the immune system and has been a strong proponent 
of newborn screening for these types of diseases. She has been a 
pioneer in the use of bone marrow transplantation to provide immune 
reconstitution to all infants with SCID.
    The diagnosis of SCID very early in life is a true pediatric 
emergency, and the decision to screen for SCID will literally save the 
lives of infants. We are very pleased that this has been recognized at 
the Federal level. In May 2010, SCID was added to the Recommended 
Uniform Screening Panel. Since that time, we have been working to 
ensure that States implement newborn screening for SCID. To date, 16 
States and the territory of the Navajo Nation have already implemented 
newborn screening for SCID. Based on the screening done in these 
States, SCID is estimated to occur in approximately 1 in 40,000 to 1 in 
70,000 births. Without newborn screening for SCID, these children have 
little chance at an early diagnosis and treatment. Newborn screening 
has led to the identification and treatment of dozens of infants with 
SCID and many more with other kinds of T-lymphocyte deficiencies in 
those States that are screening. Successful screening ensures that 
these babies will have the opportunity for early treatment and the 
chance of a normal, healthy life because of early detection.
    This fall, the Center for Disease Control and Prevention's (CDC) 
National Center for Environmental Health, Newborn Screening, and 
Molecular Biology Branch publicized that three more States--Georgia, 
Oklahoma, and Virginia--will be funded for a total for $1,800,000 under 
the ``Program to Support New Implementation of State of Territorial 
Public Health Laboratory Capacity of Newborn Bloodspot Screening of 
SCID.'' These States will be compensated between $250,000 and $300,000 
per year for 2 years, which will help support the implementation of 
SCID to their newborn screening panels. CDC previously funded 
Wisconsin, Massachusetts, Michigan, and Minnesota to include SCID on 
their newborn screening panels and now, all four States maintain active 
NBS SCID screening programs. Today, 44 States and the District require 
screening of at least 29 of the 31 treatable core conditions.
    Newborn screening has a profound impact on children with SCID and 
their families. Therefore, IDF urges Congress to pass S. 1417, ``the 
Newborn Screening Saves Lives Reauthorization Act of 2013'' introduced 
by Chairwoman Hagan and Senator Hatch. Importantly, this legislation 
would reauthorize Health Resources and Services Administration (HRSA) 
grants to States to expand and improve their screening programs, 
educate parents and healthcare providers, and improve followup care for 
infants with a condition detected through newborn screening and 
continue to support the Advisory Committee on Heritable Disorders in 
Newborns and Children, which provides States with a Recommended Uniform 
Screen Panel to help ensure every infant is screened for conditions 
which have a known treatment. The legislation includes a number of 
provisions that will strengthen current efforts, ensure timely review 
of new conditions, promote quality assurance and support research in 
this area.
    As we celebrate the 50th anniversary of Newborn Screenings this 
year, on behalf of IDF, we hope Congress will support the facilitation 
of a comprehensive newborn screening program in every State to save the 
lives of thousands of newborns.
    Thank you for your serious consideration of this critical issue.
      Response to Questions of Senator Warren by Natasha Bonhomme
    Question 1. Newborn screening is carried out on a State level by 
public health departments, and their labs are doing some of the 
research that leads to new tests. State budgets, and public health 
departments' in particular, are under considerable pressure. Can you 
tell us about the States' need for Federal funding for screening, and 
the impact of funding reductions on public health labs, screening 
programs, and our ability to invest in further research?
    Answer 1. While newborn screening is run at the State level, 
Federal funds are used to maintain the integrity of these programs from 
both a laboratory and followup perspective. As State budgets contract, 
there is a growing need for Federal support to maintain the basic 
functions of the newborn screening programs. The Centers for Disease 
Control and Prevention (CDC) assesses the quality of newborn screening 
programs. This ensures that State laboratories are compliant with the 
Federal Clinical Laboratory Improvement Amendments (CLIA). Without the 
support of CDC, States would have to find other ways to meet CLIA 
requirements. Even if this were possible, there would be a great deal 
of uncertainty regarding the validity of a new assessment process. 
Through CDC, Federal funds are also used to help newborn screening 
programs improve the quality of tests as well as provide training on 
new testing methodologies. Without this work, progress in detecting 
treatable conditions would greatly diminish and could lead to negative 
outcomes for children who otherwise would have been diagnosed early. 
Without the Federal funding, States would not be in a position to 
invest in updating their approaches to screening, causing newborn 
screen programs to regress.
    In recent years, Federal funds have also gone to support the 
implementation of and education around conditions newly added to 
screening panels. The Health Resources and Services Administration 
(HRSA) currently runs the Critical Congenital Heart Disease (CCHD) 
Newborn Screening Demonstration Program. This program focuses on 
increasing the number of newborns screened for CCHD before discharge 
from newborn nurseries. The grantees of this program utilize validated 
screening protocols and enhance State newborn screening infrastructure; 
as well as create or build upon their State's infrastructure to collect 
and utilize information from various hospitals within a health 
information network for the detection of CCHD and related patient 
followup and outcomes. HRSA also oversees a number of cross-State/
cross-regional programs to encourage sharing of information and support 
for public education, including Baby's First Test, the Nation's newborn 
screening clearinghouse.

    Question 2. As science is rapidly advancing, some parents have 
concerns about research on their baby's blood samples. Massachusetts 
has a mandatory screening panel, and optional tests that the Department 
of Public Health is researching to determine whether there is enough 
evidence to require them. Parents must give informed consent before 
these optional screens. This strikes a good balance between making sure 
that all babies are screened, and making sure that parents are informed 
about what is research and what is clinical care. Are there national 
efforts underway to better inform parents about research that may take 
place with their children's blood samples?
    Answer 2. Many States will have an optional or pilot panel. 
Typically, newborn screening programs use these panels to determine if 
there is strong enough evidence to include certain conditions on their 
mandatory panel. Because every State has a different protocol adding 
conditions to the required list, the process of consent does vary. 
There are national efforts to have State newborn screening programs 
share their process so best practices can be developed. Because not 
every State at all times has a pilot program or optional list of 
conditions running, it is important that educational efforts not only 
continue but also expand. This will ensure that parents in all States 
are aware of newborn screening and what conditions are included as well 
as how the bloodspots potentially may be used in research and quality 
control for the State programs.
    There are also specific efforts in many States to inform parents 
and the public about the different types of research that may take 
place with a bloodspot. Particularly, Michigan and Minnesota have done 
extensive work on educating the public about how bloodspots are stored 
and the potential uses in regards to improving the newborn screening 
programs and helping to detect life-threatening conditions. The 
National Institutes of Health funded a group from the University of 
Utah to better understand what the public, nationwide, knew about this 
topic and to determine public options and educational needs around 
bloodspot usage and research.

    Question 3. Some parents have concerns about the disclosure of 
their children's genetic information. It's extremely important that 
providers and public health departments are transparent about how 
samples are used and stored. Can you tell us how patient information is 
protected, and how any genetic information is kept safe?
    Answer 3. There is a national push through the work of 
organizations such as the Association of Public Health Laboratories, to 
encourage all State programs to have and periodically update their 
policies on newborn screening information. Baby's First Test works 
closely with these entities on having these policies be transparent and 
easily accessible to the public. While there are great barriers to 
State programs due to budget cuts, there are efforts to build upon 
existing infrastructure to keep patient information protected. This 
includes protected databases that follow standard procedures for public 
health data, limited access to data, and employee training on data 
practices and State statutes. All data is kept behind protected 
firewalls. Newborn screening programs also comply with their State's 
Government Data Practices Act. When research is done, any identifiable 
information is removed from the sample in accordance with the Office of 
Human Research and Protection guidelines. If for some reason 
identifiable information is needed, consent from parents is required 
ahead of time.
    Response to Question of Senator Warren by R. Rodney Howell, M.D.
    Question. Mandatory newborn screening saves lives, however some 
parents have concerns with the mandatory nature of newborn screening. 
These concerns stem from whether these tests are necessary, cost-
effective, or appropriate for widespread administration. Can you 
describe the process and factors considered by the Advisory Committee 
to determine whether new tests should be added to the list of 
recommended conditions, and the importance of mandatory screening?
    Answer. The Advisory Committee (SACHDNC) has developed a lengthy, 
rigorous process but fully transparent, process for nominating, 
reviewing, and recommending new conditions to the Secretary of Health 
and Human Services. Any individual or group can nominate a condition to 
be considered for addition to the recommended uniform panel. The 
process and the nomination form is described in detail with directions 
on the Advisory Committee Web site (http://www.hrsa.gov/
advisorycommittees/mchbadvisory/heritabledisorders/). The nomination 
form to be completed by the nominating group includes details about the 
affiliation of the nominator and organizations making the nomination.
    Section I of the nomination form describes the condition nominated 
(type of disorder, screening method, genetic information, case 
definition, incidence, timing of clinical onset, and severity of 
disease). Only conditions which are very serious (with regards to 
morbidity, disability, mortality), and have reliable screening tests 
available are considered. Later in this section of the form an outline 
of the treatment is required: modality, urgency, benefits, 
availability, and potential harms of treatment.
    Section II, part A of the nomination form requires evidence of a 
validated laboratory test, evidence of widely available confirmatory 
testing, and a prospective population-based pilot study. Extensive 
laboratory quality information about the screening test is required. 
Part B of this section of the form requires information about the 
confirmatory testing (validity, type of sample required, is test FDA-
approved, and a list of the CLIA-approved labs in the United States 
offering confirmatory testing) Section II, part C requires the detailed 
information from the population-based pilot study, including false 
positive and negative rates, and number of infants with confirmed 
diagnosis).
    Section III requires a series of the key references supporting the 
nomination.
    The nomination form is then sent to HRSA, where it is reviewed to 
ensure it is complete, and then sent to the Advisory Committee. The 
exact details of how the Advisory Committee handles nominated 
conditions has been published in order to ensure transparency of the 
process (Committee Report: Method for evaluating conditions nominated 
for population-based screening or newborns and children, Calonge, N, et 
al. Genetics in Medicine 12:153-159, 2010). Once complete, the 
nomination package is studied by the committee's internal nomination 
and prioritization workgroup to ensure that it is likely that there is 
sufficient information to permit a systematic evidence review of the 
natural history and severity of the condition, the analytical and 
clinical validity of the screening tests, and the effectiveness of 
treatments. If this workgroup feels it is appropriate the nomination is 
then moved to an external workgroup for a systematic evidence review.
    The external workgroup was established through a competitive 
contract through HRSA, and is comprised of an independent group of 
experts in evidence review. Since all recommendations by the committee 
must be evidence-based, this group conducts a structured, detailed 
evidence review of all the issues involved. They have also published 
how they do the evidence review, so again that is transparent (An 
evidence development process for newborn screening. Perrin, JM, et al. 
Genetics in Medicine, 12:131-34, 2010). The current charge to the 
Advisory Committee includes cost-effectiveness analysis as one category 
of evidence to be considered by the committee. A recent publication by 
members of the external workgroup (with the addition of some experts in 
cost analysis) has outlined how this information can be gathered 
(Decision analysis, economic evaluation, and newborn screening: 
challenges and opportunities. Prosser, LA, et al, Genetics in Medicine, 
14:703-12, 2012).
    After the external workgroup finishes its detailed evidence review 
(all of which are published verbatim on the SACHDNC Web site), the 
entire committee reviews and discusses all the evidence, asks for input 
from the public, and then finally votes on its recommendation. The 
committee recommendations are sent to the Secretary of Health and Human 
Services who makes the final determination as to its being added to the 
Recommended Uniform Screening Panel (the RUSP).
    Laws and regulations regarding mandatory newborn screening of 
newborns are in force in virtually all States. In all circumstances 
States make these rules. Some States have historically had regulations 
that required asking permission to perform newborn screening, but from 
the information I have these have in general not been observed. The 
conditions on the newborn screening panel have been identified as being 
very serious, life-threatening, or life-altering conditions. All have 
treatments. Since these conditions are inherited in a recessive 
fashion, families would not have any way to know that their children 
were at risk. And since they are so very serious (some cause profound 
retardation, and other sudden death without treatment), it is my strong 
feeling that no competent adult could decline a test, minimally 
invasive, which could be life saving for their infant.
    It is certainly the practice currently that if a newborn screening 
test is being performed for a research purpose, permission is asked 
from the family. It is interesting that in some recent work where 
research studies were being performed on infants in certain hospitals, 
the overwhelming majority of parents agreed to the study, although the 
condition being studied had, at that time, no treatment. There needs to 
be a great effort to better inform parents about newborn screening, 
since most at this time are poorly informed. It is most difficult to 
include this information at the time of birth since the usual mother 
stays only 24 hours in the hospital after birth, and these few post-
partum hours are filled with many activities, and hopefully some rest.
    Since the conditions on the recommended uniform screening panel are 
individually rare, there are many areas of research needed, such as 
long-term outcomes and treatment followup of screened newborns and how 
best to obtain informed consent for future newborn screening research.
  Response to Questions of Senator Warren by Jennifer L. Howse, Ph.D.
    Question 1. Newborn screening is carried out on a State level by 
public health departments, and their labs are doing some of the 
research that leads to new tests. State budgets and public health 
departments' in particular, are under considerable pressure. Can you 
tell us about the States' need for Federal funding for screening, and 
the impact of funding reductions on public health labs, screening 
programs, and our ability to invest in further research?
    Answer 1. The March of Dimes recognizes that budget limitations 
present many challenges at the State level, and funding cuts can pose 
difficult choices for newborn screening programs. For example, 
shrinking budgets hinder the ability of States to update their newborn 
screening panels with new conditions added to the Recommended Uniform 
Screening Panel. Today, 44 States and the District of Columbia require 
screening for at least 29 of the 31 treatable core conditions. Federal 
funding supports efforts to implement pilot studies that can assist 
States to more quickly adopt screening for new conditions. For example, 
the Centers for Disease Control and Prevention provided pilot funding 
to Minnesota and Michigan to assist with the implementation of severe 
combined immunodeficiency (SCID) screening and determine best practices 
for other States to implement. While additional Federal resources would 
speed implementation of SCID and other conditions in States, reductions 
in Federal funding coupled with limitations at the State level could 
completely halt the important progress being made.
    Cuts to Federal and State funding not only affect the number of 
conditions screened, they also affect the quality of the screening 
itself. The Centers for Disease Control and Prevention's Newborn 
Screening Quality Assurance Program (NSQAP) is a voluntary, non-
regulatory program to assist State health departments and their 
laboratories in maintaining and enhancing the quality of test results. 
The program provides services to more than 85 domestic newborn 
screening laboratories, 31 manufacturers of diagnostic products, and 
laboratories in 67 countries. NSQAP has been the only comprehensive 
source of essential quality assurance services for dried bloodspot 
testing for more than 33 years. In partnership with State laboratories, 
NSQAP continues to make improvements in services offered and to meet 
the growing and changing needs for newborn screening in the public 
health community. Reductions in funding would hamper this progress and 
prohibit NSQAP from assisting public health laboratories in developing 
and refining screening tests, conducting pilot studies, and 
implementing new methods to improve detection of treatable disorders. 
Funding cuts would impact the quality of these critical tests that 
prevent death and disability.
    The March of Dimes would be pleased to provide you with more 
information about the impact of budget cuts on specific research 
initiatives or related undertakings.

    Question 2. As science is rapidly advancing, some parents have 
concerns about research on their baby's blood samples. Massachusetts 
has a mandatory screening panel, and optional tests that the Department 
of Public Health is researching to determine whether there is enough 
evidence to require them. Parents must give informed consent before 
these optional screens. This strikes a good balance between making sure 
that all babies are screened, and making sure that parents are informed 
about what is research and what is clinical care. Are there national 
efforts underway to better inform parents about research that may take 
place with their children's blood samples?
    Answer 2. The March of Dimes recognizes that Federal and State 
newborn screening laws must strike a careful balance between advancing 
public health and protecting individual privacy. Historically, each 
State has retained the authority to determine which tests are included 
in its newborn screening panel, how those tests are offered to 
families, and the operation of systems for storage and future use of 
newborn bloodspots. There are no Federal laws or rules about how these 
important decisions should be made; however, the U.S. Secretary of 
Health and Human Services' Advisory Committee on Heritable Disorders in 
Newborns and Children issued a report in July 2011 titled, 
``Considerations and recommendations for national guidance regarding 
the retention and use of residual dried bloodspot specimens after 
newborn screening.'' This report was compiled in order to provide basic 
guidance for State policies related to protecting an individual's 
privacy and to allow for the important public health uses of the 
residual bloodspots.
    In addition, the Federal Government supports a comprehensive source 
of information about newborn screening, known as Baby's First Test. 
This online information clearinghouse is maintained by the non-profit 
Genetic Alliance and funded by the Genetic Services Branch of the 
Maternal and Child Health Bureau of the Health Resources and Services 
Administration (HRSA). The clearinghouse provides current educational 
and family support and services information, materials, and resources 
about newborn screening at the local, State, and national levels. This 
resource is dedicated to educating parents, family members, health 
professionals, industry representatives, and other members of the 
public about the newborn screening system, including what happens with 
the residual bloodspots.
    More specifically, Baby's First Test provides parents with detailed 
State-specific newborn screening program overviews for all 50 States 
and the District of Columbia, including information on all screened 
conditions, any ``opt-out'' actions available, and the rules and 
procedures in each State that govern the storage and use of dried 
bloodspots.
    The March of Dimes would be pleased to share further information 
with you about any aspect of Federal or State laws or guidelines 
related to research on newborn bloodspots.

    Question 3. Some parents have concerns about the disclosure of 
their children's genetic information. It's extremely important that 
providers and public health departments are transparent about how 
samples are used and stored. Can you tell us how patient information is 
protected, and how any genetic information is kept safe?
    Answer 1. The March of Dimes believes in the importance of patient 
privacy protections related to the use of newborn screening 
information. Each State has laws governing the storage and use of 
newborn bloodspots and the associated information. State laws related 
to privacy of personal or medical information generally apply to any 
unauthorized access to or malicious use of newborn screening 
information. Protecting the interests of the infants from whom the 
dried bloodspots are obtained is of the utmost importance to State 
public health programs, and States continue to refine guidelines for 
the use of residual samples.
    Most State newborn screening programs routinely use post-screening 
residual samples for the purpose of laboratory quality assurance (i.e., 
comparing results of the tests from the screening laboratory with those 
of the reference laboratory) and for the development of new screening 
methods. This ensures the ongoing accuracy of laboratory equipment and 
methods and ensures that results will be correct for all newborns.
    Beyond the protections afforded by States, any research undertaken 
with newborn bloodspots must be conducted in an ethical manner that 
respects and protects the rights of children and their families. 
Federal regulations on the protection of human subjects, known as the 
Common Rule, apply to all research that is conducted or supported by 
any U.S. Federal agency or department. These rules would require 
studies that use newborn screening bloodspots be reviewed and approved 
by an Institutional Review Board (IRB). Additionally, this research is 
governed by protections provided by executive agencies such as the Food 
and Drug Administration and laws that govern medical privacy such as 
the Health Insurance Portability and Accountability Act (HIPAA).
    The March of Dimes would be pleased to supply you with further 
information on privacy laws in any specific State or region, or 
examples of laws that deal with certain aspects of the permissible uses 
of newborn screening bloodspots.

    [Whereupon, at 11:28 a.m., the hearing was adjourned.]