Att D - Report to Congress

2011 Annual Report to Congress
Secretary’s Advisory Committee on
Heritable Disorders in Newborns and Children

Committee Report

TABLE OF CONTENTS

EXECUTIVE SUMMARY .......................................................................................................... 1
INTRODUCTION......................................................................................................................... 2
PART I ........................................................................................................................................... 4
SACHDNC Structure and Responsibilities ................................................................................ 4
Subcommittees ........................................................................................................................ 5
Workgroups............................................................................................................................. 5
SACHDNC Responsibilities ................................................................................................... 6
SACHDNC Newborn Screening Guidelines: The RUSP ........................................................... 6
Evolution of the Nomination and Evidence Review Process ................................................. 7
Incidence and Prevalence of Conditions on the RUSP ......................................................... 10
State Implementation of the RUSP ....................................................................................... 12
Other SACHDNC Guidelines: Components of the Newborn Screening System and Special
Topics ........................................................................................................................................ 14
Follow-Up ............................................................................................................................. 14
Management and Treatment ................................................................................................. 15
Heritable Disorders, Newborn Screening, and Health Care Reform .................................... 15
Education .............................................................................................................................. 16
Sickle Cell Disease Carrier Screening .................................................................................. 17
The Retention and Use of Residual Dried Blood Spot Specimens After Newborn Screening
............................................................................................................................................... 17
PART II........................................................................................................................................ 19
Section 1109: Improved Newborn and Child Screening for Heritable Disorders .................... 19
Regional Genetic and Newborn Screening Service Collaboratives ...................................... 19
Newborn Screening Effective Follow-Up Projects............................................................... 21
Section 1110: Grant Program to Evaluate the Effectiveness of Screening, Counseling, or
Health Care Services ................................................................................................................. 21
Section 1112: Clearinghouse of Newborn Screening Information ........................................... 22
Section 1113: Laboratory Quality............................................................................................. 23
Section 1114: Interagency Coordinating Committee on Newborn and Child Screening ......... 24
Section 1115: National Contingency Plan for Newborn Screening.......................................... 24
Section 1116: Hunter Kelly Research Program ........................................................................ 26
CONCLUSION: The Future of Screening for Heritable Disorders ...................................... 28
Appendix A: Conditions Screened for by State Newborn Screening Programs ................... 31
Appendix B: SACHDNC Publications ...................................................................................... 38
Appendix C: List of the SACHDNC Recommendations to the HHS Secretary and
Outcomes ..................................................................................................................................... 39

SACHDNC 2011 Report to Congress

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EXECUTIVE SUMMARY
Health and development in newborns and children depends on a complex interaction between
genetic and environmental factors. Many important genetic conditions are identified by newborn
screening, a longstanding public health program that provides early identification and follow-up
for treatment of infants affected by certain genetic, metabolic, hormonal, infectious, and/or
functional conditions. Screening detects disorders in newborns that, if left untreated, can cause
physical and/or intellectual disabilities, serious illness, and even death. The Secretary‘s Advisory
Committee on Heritable Disorders in Newborns and Children (SACHDNC) was chartered in
February 2003 to advise the Secretary regarding the most appropriate application of
technologies, policies, guidelines, and standards for effectively reducing morbidity and mortality
in newborns and children having or at risk for heritable disorders.
The 110th Congress enacted the Newborn Screening Saves Lives Act of 2008 (the Act) to amend
the authorizing legislation, the Public Health Service (PHS) Act, 42 U.S.C. 300b-10, which
established the Heritable Disorders Program, SACHDNC, and associated grant programs. The
Act added several programs and further defined activities for SACHDNC. This report fulfills a
requirement of the amending legislation: an annual report to Congress, the Secretary of the
Department of Health and Human Services (HHS), the Interagency Coordinating Committee
established by the legislation, and State Health Departments, to be submitted 3 years after the
date of enactment of the Act.
As instructed in the Act, Part I of the report discusses peer-reviewed newborn screening
guidelines formulated by SACHDNC. The report details the process by which conditions come
under SACHDNC consideration for addition to the recommended uniform screening panel
(RUSP). The extensive, ongoing efforts of SACHDNC to adhere to the most rigorous process
possible for the systematic review of scientific evidence regarding the addition of conditions to
the RUSP also are described. Part I then explores other SACHDNC guidelines pertaining to
components of the newborn screening system, including follow-up; management and treatment;
education; and special topics such as newborn screening and health care reform, the retention
and use of residual dried blood spots, and sickle cell disease. For each of these issues,
background information, SACHDNC recommendations, and actions of SACHDNC and the HHS
Secretary (when applicable) are highlighted.
At the request of SACHDNC, Part II of the report was written to include a description of the
implementation of programs where the Act specifies that SACHDNC serves as an advisor, a
platform for coordination and information sharing, or a consulting body, such as the Clearinghouse
of Newborn Screening Information, the Interagency Coordinating Committee on Newborn and
Child Screening, the Hunter Kelly Research Program and a laboratory quality program.
The report concludes with an examination of current and future opportunities and challenges in
newborn screening and their possible effect on State newborn screening programs, as well as
implications for SACHDNC, Federal health officials, and Congress as leaders of the Nation‘s
efforts to prevent the potentially devastating consequences of heritable disorders in newborns
and children.

SACHDNC 2011 Report to Congress

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INTRODUCTION
Health and development in newborns and children depends on a complex interaction between
genetic and environmental factors. In 2000, Congress recognized the need for Federal input to
assist States with improving access to and the quality of services available to newborns and
children at risk for heritable disorders. The Secretary‘s Advisory Committee on Heritable
Disorders in Newborns and Children (SACHDNC) was chartered in February 2003 to advise the
Secretary regarding the most appropriate application of technologies, policies, guidelines, and
standards for effectively reducing morbidity and mortality in newborns and children having, or at
risk for, heritable disorders. SACHDNC assists the Secretary of the U.S. Department of Health
and Human Services (HHS), specifically by providing (1) advice and recommendations
concerning the grants and projects
authorized under the Heritable
What Is Newborn Screening?
Disorders Program; (2) technical
information to develop policies and Newborn screening is the practice of testing all babies for
priorities for this program that will certain disorders and conditions that can hinder their
enhance the ability of the State and normal development. Babies with these conditions appear
local health agencies to provide for healthy at birth but can develop serious medical problems
newborn and child screening,
later in infancy or childhood. Early detection and
counseling, and health care
treatment can help prevent intellectual and physical
services for newborns and children disabilities and life-threatening illnesses.
having or at risk for heritable
disorders; and (3)
Newborn screening usually begins with a hearing screen
recommendations, advice, or
and/or blood test 24–48 hours after the baby is born.
information that may be necessary
to enhance, expand, or improve the The blood test is performed by pricking the baby‘s heel to
collect a few drops of blood. The blood is placed on a
ability of the Secretary to reduce
special piece of paper and sent to a laboratory for analysis.
the mortality or morbidity in
Sometimes a repeat blood test is required, particularly if
newborns and children from
the first test was done before the baby was 24 hours old. If
heritable disorders.
the results of the test are abnormal, additional testing is
SACHDNC‘s activities to date
required to confirm the result. Parents are notified within a
have addressed some broad issues
few days of the first test if retesting is necessary.
in heritable disorders in newborns
The hearing test uses a soft earphone or other instrument
and children. SACHDNC has
that is placed in the baby‘s ear.
focused much effort on newborn
screening, where there was
Source: National Institutes of Health, National Library of
opportunity to make significant
impact to remedy disparity, address Medicine, Genetics Home Reference,
http://ghr.nlm.nih.gov/nbs
gaps, and develop models that can
be applied more broadly to the
issues of heritable disease in newborns and children. Screening detects disorders in newborns
that, if left untreated, can cause physical and/or intellectual disabilities, serious illness, and even
death. Since the inception of newborn screening in the 1960s, more than 150 million infants have
been screened for certain genetic and congenital disorders.

SACHDNC 2011 Report to Congress

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Technological advances in newborn screening have led to significant program expansion and
also have spurred the need for SACHDNC to concentrate its work in this area to help State
newborn screening programs respond. In response to the changing environment, the 110th
Congress enacted the Newborn Screening Saves Lives Act of 2008I (the Act). The Act amends
the authorizing legislation, the Public Health Service Act, 42 U.S.C. 300b-10, which established
the Heritable Disorders Program (HDP), SACHDNC, and two associated grant programs. The
HDP was established to facilitate the creation of Federal guidelines on newborn screening; to
assist State newborn screening programs in meeting Federal guidelines; to improve education,
outreach, and coordinated follow-up care; and to improve laboratory quality and surveillance for
newborn screening. The 2008 amending and reauthorizing legislation established several
additional programs and instilled SACHDNC with specific responsibilities as follows:
● Making systematic

evidencebased and peer-reviewed
recommendations regarding
screening for heritable disorders;
● Developing a model decision
matrix for newborn screening
expansion and updating the
recommended uniform screening
panel (RUSP) based on such a
decision matrix;
● Considering ways to ensure that
all States attain the capacity to
screen for the RUSP with support
from grant funding, if necessary,
provided for in the Act; and
● Providing recommendations,
advice, or information dealing
with various components of the
newborn screening system.

Suggested Topics of the Newborn Screening Saves
Lives Act of 2008 for Recommendations, Advice,
or Information From SACHDNC
1. Follow-up activities
2. Implementation, monitoring, and evaluation of
newborn screening activities
3. Technologies used in screening
4. Availability and reporting of testing for conditions
for which no treatment exists
5. Conditions not in the RUSP that are treatable with
Food and Drug Administration-approved products
or other safe and effective treatments
6. Use of minimum standards and related policies
and procedures by States such as terminology
7. Quality assurance, oversight, and evaluation of
State newborn screening programs
8. Public and provider awareness and education
9. Cost and effectiveness of State newborn
screening, medical evaluation systems, and
intervention programs
10. Identification of causes, public health impacts,
and risk factors related to heritable disorders
11. Coordination of surveillance activities to assess
and enhance monitoring of newborn disease

This report fulfills a requirement of
the reauthorizing legislation (Section
1111(e)): an annual report to
Congress, the Secretary, the
Interagency Coordinating Committee
established in the legislation, and
State Health Departments to be first
submitted 3 years after the date of
enactment. As instructed in the Act, Part I of the report discusses peer-reviewed newborn

I

The Newborn Screening Saves Lives Act of 2007 was enacted on April 24, 2008. A House Resolution
subsequently was enacted on May 27, 2008, making technical corrections, including the renaming of the act as the
Newborn Screening Saves Lives Act of 2008.

SACHDNC 2011 Report to Congress

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screening guidelines formulated by SACHDNC. The report details the process by which
conditions come under SACHDNC consideration for addition to the RUSP. The extensive,
ongoing efforts of SACHDNC to adhere to the most rigorous process possible for the systematic
review of scientific evidence regarding the addition of conditions to the RUSP also are
described. Part I then explores other SACHDNC guidelines pertaining to components of the
newborn screening system, including follow-up; management and treatment; education; and
special topics such as newborn screening and health care reform, the retention and use of residual
dried blood spots, and sickle cell disease. For each of these issues, background information,
SACHDNC recommendations, and actions of SACHDNC and the HHS Secretary (when
applicable) are highlighted.
At the request of SACHDNC, Part II of the report was written to include a description of the
implementation of programs where the Act specifies that SACHDNC serves as an advisor, a
platform for coordination and information sharing, or a consulting body, including the
Clearinghouse of Newborn Screening Information, the Interagency Coordinating Committee on
Newborn and Child Screening, the Hunter Kelly Research Program and a laboratory quality
program. Part II also includes the implementation of the other activities authorized by the Act
such as the establishment of the Contingency Plan for Newborn Screening and a grant program
to evaluate the effectiveness of newborn screening programs.
The report concludes with an examination of current and future opportunities and challenges in
newborn screening and their possible effect on State newborn screening programs, as well as
implications for SACHDNC, Federal health officials, and Congress as leaders of the Nation‘s efforts
to prevent the potentially devastating consequences of heritable disorders in newborns and children.

PART I
SACHDNC Structure and Responsibilities
SACHDNC consists of 15 voting members, including the following voting ex officio
members: the Administrator of Health Resources and Services Administration (HRSA), the
Directors of the Centers for Disease Control and Prevention (CDC), the National Institutes of
Health (NIH), the Agency for Healthcare Research and Quality (AHRQ), and the Commissioner
of the Food and Drug Administration (FDA) or their designees. SACHDNC members are
selected based on their expertise and qualifications necessary to contribute to the
accomplishments of SACHDNC‘s objectives. Through its recommendations regarding newborn
and child screening programs, SACHDNC plays a leading role in the promotion of public health
in the United States. Therefore, SACHDNC members appointed by the Secretary include:
● Medical,

technical, or scientific professionals with special expertise in heritable disorders or
in providing screening, counseling, testing, or specialty services for newborns and children
at risk for heritable disorders;
● Individuals with expertise in ethics and infectious diseases who have worked and published
material in the area of newborn screening; and
● Members of the public having special expertise about or concern with heritable disorders.
Appointed SACHDNC members serve as individuals, not as representatives of organizations or
interest groups. Members are invited to serve for overlapping terms of up to 4 years. A quorum for

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the conduct of business by the full SACHDNC is a simple majority (eight) of the voting members.
SACHDNC also includes up to 12 nonvoting liaisons or organizational representatives, as
determined to be necessary by the Secretary, to fulfill the duties of SACHDNC.
Subcommittees
SACHDNC has three established subcommittees. All subcommittee findings are presented to
SACHDNC in an open meeting, and this information is openly deliberated.
1. The Education and Training Subcommittee reviews existing educational and training
resources, identifies gaps, and makes recommendations regarding the following five
groups: health professionals, parents, screening programs staff, hospital and birthing
facility staff, and the public.
2. The Laboratory Standards and Procedures Subcommittee defines and implements
mechanisms for the periodic review and assessment of the following:
● The conditions included in the uniform panel,
● Infrastructure services needed for effective and efficient screening of the conditions
included in the uniform panel, and
● Laboratory procedures used for effective and efficient testing of the conditions
included in the uniform panel.
3. The Follow-Up and Treatment Subcommittee engages in a multistep process that
● Identifies barriers to short- and long-term follow-up of newborn screening results
specific to the challenges in integration of health care systems, financing of services, and
information technology;
● Develops recommendations for overcoming identified barriers in order to improve shortand long-term follow-up of newborn screening results; and
● Recommends mechanisms for establishing accountability for newborn screening follow
up guidelines.
Workgroups
SACHDNC forms subgroups or workgroups of SACHDNC as a resource for gathering, analyzing,
and preparing information for SACHDNC such as research data, published literature, and expert
opinion on a specific topic. The SACHDNC Chair appoints workgroup members, and these
members need not be SACHDNC members. All workgroup findings are presented to SACHDNC
in open meeting, and this information is openly deliberated. Workgroups are dissolved upon
completion of an assigned task.
Current SACHDNC Workgroups
● Carrier Screening
● External Review
● Internal Nomination and Prioritization
Review
● Newborn Screening Education
● Evidence Evaluation Methods

SACHDNC 2011 Report to Congress

Previous SACHDNC Workgroups
● Health Information Technology
● Medical Foods and Formulas
● Research
● Residual Blood Spots
● Critical Congenital Heart Disease
● Sickle Cell Disease Carrier Screening

5

SACHDNC Responsibilities
SACHDNC duties include (1) making evidence-based recommendations regarding disorders for
which newborns and children should be screened; (2) evaluating and updating SACHDNC‘s
RUSP; (3) providing advice to grants and other activities supported under the HDP, a program to
improve the ability of States to provide newborn and child screening for heritable disorders; and
(4) providing recommendations, advice, or information on a variety of policies that affect the
Secretary‘s ability to reduce mortality or morbidity from heritable disorders in newborns and
children.II
The SACHDNC process for developing recommendations for the RUSP (discussed further in the
following section of the report) is designed to be streamlined, consistent throughout the review
process, transparent and evidenced based. With respect to the HDP, SACHDNC may provide
advice and recommendations to the Secretary concerning grants and projects, supply technical
information to the Secretary for the development of policies and priorities for the administration of
HDP grants, or consider ways to ensure that all States attain the capacity to screen for the
conditions on the RUSP and include in such consideration the results of grant funding of the HDP.

SACHDNC Newborn Screening Guidelines: The RUSP
In 2002, HRSA‘s Maternal and Child Health Bureau (MCHB) commissioned the American
College of Medical Genetics (ACMG) to convene an expert panel to develop a report outlining a
process to standardize guidelines for newborn screenings. At that time, the Nation‘s newborn
screening programs were not screening uniformly for conditions. Some States mandated
screening for as few as four conditions and others as many as 50.
The ACMG panel evaluated 81 heritable conditions and assigned 29 conditions to a core
newborn screening panel. The panel assigned 25 conditions to a secondary tier because these
conditions lacked efficacious treatment or the natural history of the disease was not wellunderstood. These 25 secondary tier conditions are revealed in the course of screening the core
panel or through the diagnostic process for the core panel. The remaining 27 conditions were
determined inappropriate for newborn screening at that time because of the lack of a suitable
population-based screening tool or efficacious treatment.
In September 2005, SACHDNC strongly and unanimously recommended that the Secretary
initiate appropriate action to facilitate adoption of the ACMG expert panel‘s recommended
screening panel by every State newborn screening program. In October 2008, SACHDNC
received notice that Secretary Leavitt had deferred making a determination until further
information was available. SACHDNC reaffirmed the recommendation in November 2009 that
the Secretary facilitate adoption by all State newborn screening programs of the ACMG

II

SACHDNC recommendations are published on the SACHDNC Web site. Occasionally, SACHDNC
recommendations alsoare reprinted in scientific journals. Implementation and evaluation of the impact of the
recommendations is the responsibility of the relevant HHS program and not the SACHDNC. However, HHS
programs will develop an implementation and evaluation plan for each set of recommendations and periodically
report information relevant to the implementation and evaluation activities to the SACHDNC and others who may
be involved in implementing the recommendation (e.g., State public health agencies, organizations and institutions,
health care payers, private practitioners).

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recommended uniform screening panel (now SACHDNC‘s RUSP) as the panel would provide
the Federal guidance necessary to help States voluntarily bring their programs into alignment
with the most current standards.
On February 25, 2010, SACHDNC recommended the addition of Severe Combined
Immunodeficiency (SCID)—a deadly disorder that can be treated if identified in the newborn
period—to the list of core conditions. Related T-cell lymphocyte deficiencies also were added to
the RUSP list of secondary targets. On May 21, 2010, the Secretary adopted SACHDNC‘s RUSP
(screen for the identified 29 core conditions; report on the identified 25 secondary conditions) as
a national standard for newborn screening programs. Additionally, the Secretary adopted
SACHDNC‘s recommendation to add SCID as a core condition to the RUSP, and related T-cell
lymphocyte deficiencies to the list of secondary targets.
On October 15, 2010, SACHDNC recommended the addition of critical congenital cyanotic
heart disease (CCCHD) to its RUSP. On April 20, 2011, the Secretary referred SACHDNC
recommendations to the Interagency Coordination Committee on Newborn and Child Screening
(ICC) authorized by the Act ―for additional review and input regarding implementation.‖ The
Secretary requested a proposed plan of action from the ICC to ―address identification of effective
screening technologies, development of diagnostic processes and protocols, education of providers
and the public, and strengthening service infrastructure needs for follow-up and surveillance.‖
The ICC plan is to be reported to the Secretary by July 19, 2011.
Evolution of the Nomination and Evidence Review Process
SACHDNC makes recommendations regarding additional conditions to be included in the RUSP
based on scientific evidence regarding the potential net benefit of screening. SACHDNC has
established a nomination form and detailed evidence review process to determine the suitability
of screening for nominated inherited disorders. The development of the evidence review process
began with a meeting in October 2006 of a Decisionmaking Criteria Workgroup and a group of
experts in pediatrics, genetics, and public health.1 Participants reviewed the nomination form and
discussed issues in evidence review for genetics, pediatrics and newborn screening, the evidence
evaluation process, and the expertise needed for the Evidence Review Workgroup.
SACHDNC published details about its process to nominate and review conditions to the RUSP.2
The report, Advancing the Recommended Panel of Conditions for Newborn Screening, outlined
fundamental principles for the nomination and review process: ―(1) The deliberative process will
be rigorously evidence-based, even for relatively rare conditions; (2) The procedures for the
creation of a deliberative system and the system itself will be transparent and accessible to the
scientific and lay public; (3) The process will be consistent across the different phases of the
review process and applied to all of the proposed conditions.‖3 Nomination of conditions began
in June 2007. The same year, MCHB entered into an agreement with the Massachusetts General
Hospital for Children‘s Center for Child and Adolescent Health Policy to outline and initially test
a process for systematic evidence development that could support and continue to guide the
evidence review process. The Duke Clinical Research Institute also participates in this effort.4
The first full review, in which SACHDNC voted to send the nominated condition to the
Evidence Review Workgroup, was completed in October 2008.

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Process for Nomination of a Condition to the RUSP
Step 1: Submission of a completed nomination form to the Executive Secretary for an
administrative review prior to evaluation by SACHDNC.
Step 2: Administrative review by the designated Federal official or the Executive Secretary to
determine the completeness of the form, which is sent to the Internal Review Workgroup of
SACHDNC.
Step 3: Internal review by the Nomination and Prioritization Workgroup. If the nominated
disorder is found to have sufficient evidence based on the condition (e.g., incidence,
significance), the screening test (e.g., analytical and clinical validity), and the treatment (e.g.,
efficacy), the nominated condition will be assigned to the Evidence Review Workgroup for an
evidence-based review.
Step 4: Review by the Evidence Review Workgroup. The Evidence Review Workgroup
completes a systematic evidence review (SER) report and submits it to SACHDNC for further
evaluation and recommendation.
Step 5: SACHDNC review of the SER report. Using the questions outlined in the analytic
framework of the Process for the Evaluation of the External Review of Evidence on Conditions
Nominated for Universal Newborn Screening, SACHDNC conducts the review. Additional
factors also may be weighed, such as expert opinions and ethical, legal and public heath issues.
Step 6: SACHDNC recommendation. SACHDNC will make a specific recommendation
regarding the outcome of the nomination. The Decision Protocol is used to decide on one of the
following recommendations: addition to the current core panel of screened conditions, a
requirement for more data prior to making a recommendation, or rejection.
Step 7: SACHDNC presents its recommendations to the Secretary of HHS.
SACHDNC since has continued to periodically update its evidence review process as required in
the Act. In the March 2010 publication Committee Report: Method for Evaluating Conditions
Nominated for Population-based Screening of Newborns and Children, SACHDNC describes
the process to complete the evaluation of conditions nominated for newborn screening.5
Specifically, the article explains the analytic framework, related key questions, and criteria for
assessing evidence that SACHDNC uses to evaluate systematic evidence reviews. The paper also
provides the decision matrix used to adopt SACHDNC recommendations regarding additions to
the RUSP.

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Category
1

2

3

4

Decision Matrix for SACHDNC Recommendations6
Recommendation
Level of Certainty
Magnitude of Net
Benefit
Recommend adding the
Sufficient
Significant
condition to the uniform
panel
Recommend not adding
Insufficient, but the potential
Potentially significant
the condition, but instead
for net benefit is compelling
and supported by
recommend specific
enough to recommend
contextual
additional studies
additional studies to evaluate
considerations
Recommend not adding
Insufficient, and substantial
Unknown
the condition based on
additional evidence is needed
current knowledge
to make a conclusion about net
benefit
Recommend not adding
Sufficient
Zero or net harm
the condition based on
current knowledge

Another SACHDNC publication, An Evidence Development Process for Newborn Screening,
recounts the evolution of the evidence review process, including expansion of activities with
Massachusetts General Hospital for Children‘s Center for Child and Adolescent Health Policy
and Duke Clinical Research Institute to include the promulgation of specific evidence reviews by
the group, with the main purpose of providing timely information (but not recommendations) to
SACHDNC to help inform their decisionmaking regarding new conditions nominated for
addition to the panel.7 These changes to the process have ―helped to strengthen a complex
analysis and decision system by providing balanced evidence, taking into account available highquality data, expert opinion, and other levels of evidence, in a transparent manner. The methods
developed and the identification of areas of missing data may also help investigators begin to
standardize the clinical and laboratory data they collect pertaining to the newborn screening and
diagnosis of rare disorders and their outcomes and focus future research efforts in the most
needed areas.‖8
The external Evidence Review Workgroup systematically reviews scientific evidence regarding
the potential net benefit of screening for nominated conditions and prepares reports to assist
SACHDNC. Thus far, the topics evaluated by the Evidence Review Workgroup include
screening for SCID, Pompe disease, Krabbe disease, Hemoglobin H disease, and CCCHD.
Currently, the Evidence Review Workgroup is evaluating screening for neonatal
hyperbilirubinemia. Of these conditions, SACHDNC has voted to add SCID and CCCHD to the
RUSP. If SACHDNC votes to add a condition to the panel, the recommendation to the HHS
Secretary is accompanied by the following: ―(1) a summary of evidence and strength of
recommendation(s); (2) recommendation(s) of other professional groups; (3) discussion of
rationale for SACHDNC recommendation(s) that will explicitly state the basis on which the
recommendations were made, i.e., a sufficient body of evidence based on results of controlled
trials, observational studies, case series, expert opinion, focus groups, cost- effectiveness
analysis, policy analyses, ethical analysis, and other inputs; and (4) recommended subsequent
surveillance, research, education, and program evaluation activities, if applicable.‖9

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SACHDNC Recommendation for Nominated Conditions to the SACHDNC RUSP as of April
Condition

Nomination

SCID

September
2007
Pompe disease
October
2007
Niemann-Pick disease December
2007
Fabry disease
December
2007
Krabbe disease
January
2008
Spinal muscular
June
atrophy
2008
Hemoglobin H disease April
2009
CCCHD
October
2009
Neonatal
July 2009
hyperbilirubinemia

Evidence Review
Approved for evidence review
January 2008
Approved for evidence review
January 2008
Not approved for evidence review
October 2008
Not approved for evidence review
August 2008
Approved for evidence review
August 2008
Not approved for evidence review
November 2008
Approved for evidence review
September 2009
Approved for evidence review
January 2010
Approved for evidence review
January 2010

2011III

Recommended Uniform
Screening Panel (RUSP)
Approved for addition to the
RUSP January 2010
Not approved for addition to
RUSP October 2008
N/A
N/A
Not approved for addition to
RUSP September 2009
N/A
Not approved for addition to
RUSP May 2010
Approved for addition to the
RUSP September 2010
Decision pending

One of the greatest challenges in evaluating conditions for addition to the panel is the paucity of
scientifically valid data. To address this, the Evidence Review Workgroup also interviews
domain experts and searches for important unpublished data. Appropriately summarizing
different levels of data is challenging. However, new meta-analytic techniques and approaches to
mathematical modeling have been developed. SACHDNC has convened a panel of experts in
these techniques to assist the Evidence Review Workgroup in adopting these new approaches.
Incidence and Prevalence of Conditions on the RUSP
The Evidence Review Workgroup and SACHDNC consider the incidence (number of new cases
over a specified time period)10 and prevalence (proportion of the population that has a health
condition at a point in time)11 of a condition in evaluating whether to add a condition to the
RUSP. The reported incidence of conditions on the RUSP reveals instances in which newborn
screening has made a critical difference in the lives of children. The table12 below provides the
incidence of 27 of the original 29 conditions on the RUSP as observed in four States from 2001
to 2006. The table also estimates the incidence of these conditions in 2006 in the United States
by using the data from actual observed incidence from four States (California, Massachusetts,
North Carolina, and Wisconsin) to derive the national estimated number of cases (6,439).
Unfortunately, because not all States screened for all conditions on the RUSP at that time, many
of these cases were not detected by newborn screening, resulting in serious health consequences.

III

See http://www.hrsa.gov/heritabledisorderscommittee/correspondence/CorrespConditionNominators.htm for
SACHDNC letters that explain votes not to conduct an evidence review or not to add a condition to the RUSP
following evidence review.

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Data from a CDC survey of 44 States, two Territories, and Washington, DC, revealed 3,261
cases of permanent hearing loss (not included in the table below) identified in 2006.13
Estimated Number of U.S. Children Who Would Have Been Identified With Disorders in
2006 Using the ACMG-Recommended Newborn Screening Panel, Based on Incidence of
These Disorders in Four State Newborn Screening Programs in 2001–2006, by Disorder
Observed
Number
of Cases
Disorder
Phenylketonuria (PKU;
includes clinically
significant
hyperphenylalaninemia
variants)
Maple syrup urine disease
Homocystinuria
Citrullinemia I
Argininosuccinic
acidemia
Isovaleric acidemia
Glutaric acidemia type I
Hydroxymethylglutaric
aciduria
Multiple carboxylase
deficiency
Methylmalonic acidemia
(mutase deficiency)
Methylmalonic acidemia
CblA,B
3-Methylcrotonyl-CoA
carboxylase deficiency
Propionic acidemia
Beta-ketothiolase
deficiency
Medium-chain acyl-CoA
dehydrogenase
deficiency
Very long-chain acylCoA dehydrogenase
deficiency
Long-chain 3hydroxyacyl-CoA
dehydrogenase
deficiency
Trifunctional protein
deficiency

CA, MA, NC,
and WI
(2001–2006)

Number of
Births

Rate per
100,000

95% CI

Estimated
Number of
Cases

CA, MA, NC, and
WI (2001–2006)

CA, MA, NC,
and WI
(2001–2006)

CA, MA, NC, and
WI (2001–2006)

254

4,884,217

5.20

(4.76–5.68)

215

(197-235)

14
6
13
4

2,214,329
2,214,329
2,214,329
2,214,329

0.63
0.27
0.59
0.18

(0.42–0.94)
(0.14–0.50)
(0.38–0.89)
(0.08–0.39)

26
11
24
7

(17–39)
(6–21)
(16–37)
(3–16)

19
23
2

2,474,313
2,474,313
2,474,313

0.77
0.93
0.08

(0.54–1.08)
(0.68–1.26)
(0.02–0.24)

32
38
3

(22–45)
(28–52)
(1–10)

2

2,474,313

0.08

(0.02–0.24)

3

(1–10)

30

2,474,313

1.21

(0.93–1.58)

50

(38–66)

7

2,474,313

0.28

(0.16–0.50)

12

(6–21)

60

2,474,313

2.43

(2.01–2.92)

100

(83–121)

9
4

2,474,313
2,474,313

0.36
0.16

(0.22–0.60)
(0.07–0.35)

15
7

(9–25)
(3–14)

143

2,460,473

5.81

(4.90–6.85)

239

(212–269)

41

2,460,473

1.67

(1.20–2.26)

69

(55–86)

8

2,460,473

0.33

(0.14–0.64)

13

(8–23)

1

2,460,473

0.04

(0.00–0.23)

2

(0–7)

SACHDNC 2011 Report to Congress

US (2006)

95% CI
US (2006)

11

Observed
Number
of Cases
Disorder
Carnitine uptake defect
Hb SS
Hb SC
Hb S/β thalassemia
Primary congenital
hypothyroidism
(excluding secondary,
transient, or other)
Biotinidase deficiency
(including partial)
Congenital adrenal
hyperplasia (excluding
non 21-hydroxylase
deficiency)
Classical galactosemia
plus variant (excluding
GALK and GALE)
Cystic fibrosis
(including nonclassical)
TOTAL

CA, MA, NC,
and WI
(2001–2006)

Number of
Births

Rate per
100,000

CA, MA, NC, and
WI (2001–2006)

CA, MA, NC,
and WI
(2001–2006)

26
777

1,256,869
4,403,132

2.07
17.65

326
74
2544

4,403,132
3,673,283
4,884,217

7.40
2.02
52.09

19

1,268,943

121

95% CI

CA, MA, NC, and
WI (2001–2006)

Estimated
Number of
Cases
US (2006)

95% CI
US (2006)

(1.35–3.03)
(16.78–
18.56)
(6.85–8.01)
(1.70–2.38)
(50.67–
53.55)

85
1128

1.50

(1.06–2.10)

62

(44–87)

2,474,313

4.89

(4.29–5.57)

202

(178–230)

264

4,884,217

5.41

(4.95–5.90)

224

(205–244)

270

895,410

30.15

(27.66–
32.87)

1248

(1,145–
1,360)
(6,282–
6,596)

484
163
2156

6439

(63–113)
(1,063–
1,200)
(442–532)
(131–205)
(2,097–
2,216)

In its review of SCID, the Evidence Review Workgroup noted that one study estimated the
annual incidence of SCID as a minimum of 1 in 105,000 births.14,15 The group found an average
prevalence of 8 per 10,000IV among neonates eligible for pulse oximetry screening—the
screening method used to detect CCCHD—based on a literature review of 11 studies.
State Implementation of the RUSP
States determine the list of conditions screened for as part of the State newborn screening
program. Currently, State newborn screening programs are mandated to screen for more than 35
conditions on average, and almost all have adopted the core conditions on the RUSP. The map
below depicts the widespread State adoption of the core conditions on the original RUSP as of
April 2011. (See Appendix A for tables of conditions screened for in the States.) The States that
have not adopted 100 percent of the original RUSP of 29 conditions are lacking legislation or
other state policies for a statewide mandate for specific conditions. For example, the following
10 states do not have a statewide universal mandate for hearing screening, although it is
universally offered even without the mandate (Arizona, Colorado, Georgia, Idaho, Maine,

IV

This figure includes asymptomatic newborns and excludes prenatally diagnosed CCCHD babies, symptomatic
newborns found prior to pulse oximetry screening, and those who have a syndrome commonly associated with
CCCHD.

SACHDNC 2011 Report to Congress

12

Nebraska, New Hampshire, North Dakota, South Dakota, and Washington). Alabama, North
Carolina, and Tennessee exclude tyrosinemia type I from their State newborn screening panels.
Alabama and North Carolina also exclude screening for methylmalonic acidemia and carnitine
uptake deficiency, respectively. In addition, Massachusetts does not mandate screening for three
of the recommended conditions (trifunctional protein deficiency, 3-methylcrotonyl-CoA
carboxylase, and multiple carboxylase], and Washington does not mandate screening for 3methylcrotonyl-CoA carboxylase. Despite the lack of a mandate, both Washington and
Massachusetts State newborn screening programs consider these conditions likely to be detected
as a result of the screening technology utilized.

In light of SACHDNC‘s addition of SCID to the panel, many State programs are actively
considering implementation of screening for SCID. Five States (New York, California,
Massachusetts, Louisiana, and Wisconsin) and Puerto Rico are currently screening all births
(almost 25 percent of total U.S. births) as part of initial data gathering efforts, and two States
(Pennsylvania and Texas) are screening a portion of their births. In addition, five States
(Maryland, Michigan, Minnesota, Illinois, and Iowa) have received approval to begin SCID
screening as soon as possible. Once these States are actively screening, approximately 35 percent
of babies born in the United States will be screened. Eighteen States are in various stages of fact
finding and are focused on investigations of analytical platforms, cost analysis, development of
referral and treatment services, and recruitment of necessary personnel. The pilot studies in
California, New York, Massachusetts, Wisconsin, Louisiana, and Puerto Rico have resulted in
more than 900,000 newborns or 25% of the births in the United States, being screened. Sixty

SACHDNC 2011 Report to Congress

13

infants or approximately 1 in 12,000, were identified with some form of immune deficiency.
Nineteen infants with SCID (~1 in 46,000) have been diagnosed and received treatment. No
missed cases of SCID have come to the attention of the newborn screening programs conducting
the pilots.
States may progress more slowly with respect to the implementation of screening for CCCHD.
Most States will require additional infrastructure in order to implement screening and establish
systems for quality assurance of CCCHD screening. Like hearing screening, screening for
CCCHD does not involve testing of dried blood spots. Rather, hospital staff measure pulse
oximetry on site with immediately accessible results.

Other SACHDNC Guidelines: Components of the Newborn Screening System
and Special Topics
In addition to the screening panel, SACHDNC has issued newborn screening guidelines that
address other components of the newborn screening system, including follow-up, management
and treatment, and education. SACHDNC also has formulated guidelines on other special topics
as needed, including newborn screening and health care reform, the retention and use of residual
dried blood spots, and sickle cell disease.
Follow-Up
In April 2007, SACHDNC convened a group of health care policy experts, public health
specialists, generalist and specialist care providers, allied health care providers, and the families
of affected individuals to request their input regarding long-term follow-up (LTFU) after
newborn screening.16 The product of this meeting, SACHDNC report Long-Term Follow-Up
After Diagnosis Resulting From Newborn Screening: Statement of the U.S. Secretary of Health
and Human Services’ Advisory Committee on Heritable Disorders and Genetic Diseases in
Newborns and Children, defines the key features of LTFU, the goal of which is to ensure the
best possible outcome for individuals with disorders identified through newborn screening.17 The
report expands the concept of LTFU from data management to systematic and comprehensive
care of affected individuals.18 In addition, SACHDNC identifies core components of LTFU,
which include care coordination through a medical home, evidence-based treatment, continuous
quality improvement, and new knowledge discovery. The Follow-Up and Treatment
Subcommittee of the SACHDNC later convened a workshop titled Overarching Questions in
Long-Term Follow-Up and Treatment in Newborn Screening on September 23, 2009. Invited
participants included experts from various sectors of the public health and health care systems
that interface with or are critical to LTFU after newborn screening to help define critical
questions.19 A SACHDNC statement resulting from the workshop, which was approved in
January 2011, titled What Questions Should Newborn Screening Long-Term Follow-Up Be Able
to Answer?, outlines questions that ―follow the central components of long-term follow-up
(LTFU)—care coordination, evidence-based treatment, continuous quality improvement, and
new knowledge discovery—and are framed from the perspectives of the state and nation,
primary and specialty health care providers, and the impacted families.‖20 These questions are
intended to lead to a set of quality measures to improve LTFU programs.21

SACHDNC 2011 Report to Congress

14

Management and Treatment
SACHDNC subsequently targeted one aspect of LTFU identified in the report—management
and treatment—through a series of letters and publications. On April 7, 2009, SACHDNC sent a
letter to the HHS Secretary that contained recommendations (see Appendix C) to ensure that
families receive insurance coverage for essential components of treatment through the following:
―1) a more uniform approach toward coverage by health care payers of medical foods and foods
for those conditions recommended by SACHDNC and 2) specific amendments to Medicaid
legislation to ensure more uniform coverage by State Medicaid programs.‖22 The letter was
resubmitted to the office of the HHS Secretary in May 2009 following the appointment of
Secretary Kathleen Sebelius. In March 2010, the issue was revisited in a SACHDNC white
paper, Heritable Disorders, Newborn Screening and Health Care Reform,23 which recommended
the closure of gaps in insurance coverage for medical foods and foods modified to be low in
protein per the SACHDNC letter sent in April 2009.
Heritable Disorders, Newborn Screening, and Health Care Reform
The Heritable Disorders, Newborn
The Newborn Screening Use Case is intended to
Screening and Health Care Reform white
address
paper addresses other barriers to newborn
● The ability to order and communicate the results
screening system improvement in the
from screenings in various clinical domains;
context of the health care reform
discussion that was taking place among
● The ability to communicate initial screening
policymakers. The three additional
results, confirmatory testing orders, and results
recommendations targeted the billing
and information specific to referral and
process for newborn screening services;
management of the patient;
payment methods for an integrated system ● The ability to report newborn screening
of care coordination through the medical
information to public health; and
home framework; and the adoption and
● The ability to share de-identified newborn
further definition of the Newborn
screening information with the clinical research
Screening Use Case, which was
community without requiring additional data
developed by the subgroup on newborn
collection or data entry.
screening of the American Health
Information Community‘s Personalized
Healthcare Workgroup and released in
December 31, 2008,24 within the
Department‘s health information
exchange endeavors.

Source: U.S. Department of Health and Human
Services, Newborn Screening,
http://www.hhs.gov/healthit/usecases/nbs.html

In June 2010, SACHDNC discussed data that indicated families face a substantial out of pocket
financial burden in providing treatment for children with heritable disorders detected through
newborn screening and made additional recommendations (see Appendix C) to help close gaps
in insurance coverage as HHS develops regulations to implement health care reform. While the
HHS Secretary adopted three out of four recommendations on health care reform, the
recommendation pertaining to the closure in gaps in insurance coverage for medical foods was
not adopted (as of September 2010). In a December 2010 letter, the HHS Secretary responded
that the Office of the Secretary was awaiting the results of a Department of Labor survey on

SACHDNC 2011 Report to Congress

15

employer-sponsored plans and advice from the Institute of Medicine on essential health benefits
before making a final decision on this issue.25
Education
SACHDNC has taken several steps to provide guidelines for improved parent and provider
education about the newborn screening system. The Subcommittee on Education and Training
reported on its work to SACHDNC in December 2006. The group emphasized the importance of
education that occurs within a prenatal clinical setting and the role of professional organizations
and entities most frequently involved in prenatal education such as obstetricians and nurse
midwives.26 Based on the Subcommittee findings, in an April 2007 letter, SACHDNC
recommended that the Secretary ―develop and fund a mechanism to study the distribution of
existing newborn screening educational materials and acquisition of knowledge about newborn
screening by expectant parents in the context of the healthcare provider-patient relationship.‖
SACHDNC also endorsed the Subcommittee‘s emphasis on education during the prenatal period
so that parents are informed in advance of the birth of their baby and have the opportunity to
better understand and discuss the benefits of newborn screening.27
In an effort to improve primary care provider education about medical genetics and genomic
medicine, SACHDNC, NIH, and HRSA convened a workshop to identify practical strategies to
educate primary care physicians involved in maternal and child health in June
2009. Subsequently, SACHDNC released a paper, A Blueprint for Maternal and Child Health
Primary Care Physician Education in Medical Genetics and Genomic Medicine, that
summarized the workshop and the working group recommendations that arose during the
meeting to address the lack of well-trained and available experts in medical genetics and
genomic medicine, including (1) developing a targeted curriculum for residency training
programs, (2) incorporating assessments of genetics and genomic medicine into the initial board
certification process and the process for maintenance of certification, (3) providing continuing
medical education opportunities at national meetings, (4) establishing an Internet-based
repository of recommendations for primary care providers, and (5) forming a learning
collaborative to link primary care providers and specialists to evaluate strategies to improve care
and understand barriers to and facilitators of genetics and genomic medicine into primary care
and to gather data about health care providers‘ educational needs.28
SACHDNC adopted two of the workgroup‘s suggestions and recommended (in a September
2009 letter) that the HHS Secretary develop and fund a ―Learning Collaborative‖ in genetics and
primary care training to support increased genetic literacy amongst primary care providers and
provide additional resources to increase public awareness of the newborn screening system. The
Secretary adopted both recommendations. As a result, in 2010, HRSA established a project
pairing representatives from primary care practices with genetics and genomic medical expertise
through the formation of the Genetics in Primary Care Institute (GPCI). The project is funded as
a Special Project of Regional and National Significance by MCHB. Following a development
phase, an implementation and project evaluation period planned over a 3-year period, the GPCI
will submit a final report to SACHDNC. The Clearinghouse for Newborn Screening Information
and Resources (discussed further in Part II of this report) funded under the Act fulfills the second
Secretary-adopted recommendation to increase public awareness about newborn screening.

SACHDNC 2011 Report to Congress

16

Sickle Cell Disease Carrier Screening
SACHDNC‘s Sickle Cell Disease CarrierV Screening Workgroup was established to consider
issues related to athletes and sickle cell disease carrier screening in light of policymaking and
recommendations from the National Collegiate Athletic Association (NCAA). NCAA interest
in the issue arose from a lawsuit in which the family of a student who was unknowingly a
carrier for the genetic mutations for sickle cell disease died following intense exercise. The
family asserted that the student‘s carrier status placed him at increased risk of exercise-related
sudden death.29 In 2009, NCAA recommended that institutions test student athletes to
determine their carrier status for sickle cell disease status. In April 2010, NCAA adopted a
policy that testing for sickle cell disease carrier status is required for Division I student
athletes unless proof of a prior test or a signed waiver refusing testing and releasing an
institution from liability is submitted.30
Based on the findings of the workgroup and currently available research, SACHDNC
cautioned in its October 2010 report, Screening College Athletes for Sickle Cell Disease
Carrier Status, that the need to single out athletes who are carriers of the mutation for sickle
cell disease is unwarranted. Alternatively, the report outlined five recommendations to the
HHS Secretary (see Appendix C) concerning clinical guidelines for carrier screening generally
and for sickle cell disease specifically, which acknowledge the following: (1) testing for sickle
cell disease carrier status is genetic screening, and (2) follow-up counseling and education and
mechanisms to protect the privacy of the student athlete and prevent stigmatization and
discrimination should accompany screening. SACHDNC also stated that further research is
necessary to understand the suggested association of sickle cell disease carrier status and the
increased risk of exercise-related sudden death.31 The Secretary‘s response to these
recommendations is in progress.
The Retention and Use of Residual Dried Blood Spot Specimens After Newborn Screening
In February 2009, SACHDNC established the Use and Storage of Residual Blood Spots
Workgroup. SACHDNC tasked the workgroup with the development of guidelines for States
regarding the retention and use of residual dried blood spots after newborn screening. The
workgroup solicited input from a variety of stakeholders, including community members, via
three Webinars with more than 350 participants. Ultimately, SACHDNC published a report
Considerations and Recommendations for National Guidance Regarding the Retention and
Use of Residual Dried Blood Spot Specimens after Newborn Screening that reviewed the issues
facing State newborn screening programs related to the retention and use of residual dried
blood spot specimens and laid the foundation for developing national guidance to States.
Specifically, SACHDNC encouraged ―an approach to guidance that maintains the standard
uses of the residual blood specimens by newborn screening programs and upholds the core
principles of benefiting infants, families and society, protecting privacy and confidentiality,
and ensuring the public‘s trust while recognizing the research value of residual newborn
screening specimens and their potential for advancing science and clinical care.‖ SACHDNC
recommendations (see Appendix C) pertaining to State policies on access, use, and disposition

V

As defined in the National Library of Medicine‘s Genetic Home Reference, a carrier is ―an individual who has a
recessive, disease-causing allele at a particular locus on one chromosome of a pair and a normal allele at that locus
on the other chromosome‖ (http://ghr.nlm.nih.gov/).

SACHDNC 2011 Report to Congress

17

of residual dried blood spots; education of parents and health care professionals about newborn
screening and the potential use of residual dried blood spots; the need for a national dialogue;
and the possibility of developing a voluntary national repository of residual dried blood spots
were transmitted to the Secretary on October 13, 2010. On April 13, 2011, the Secretary
referred the report to the ICC for their review and input regarding possible future
implementation of the recommendations. The ICC will submit a report with recommendations
for appropriate HHS action by June 1, 2012.

SACHDNC 2011 Report to Congress

18

PART II
Programs authorized by the Act for which SACHDNC serves as an advisor, a platform for
coordination and information sharing, or a consulting body are outlined below. Descriptions of
the project, related achievements, future plans, and challenges are highlighted below.

Section 1109: Improved Newborn and Child Screening for Heritable Disorders
Section 1109 of the HDP authorizes grant programs to (1) improve the ability of State and local
public health agencies to provide screening, counseling, or health care services to newborns who
have or are at risk for heritable disorders; (2) assist in providing health care professionals and
laboratory personnel education and training in newborn screening and new technologies; (3)
provide educational programs to parents, families, and patient advocacy groups; and (4) establish
and operate a system to assess and coordinate treatment related to congenital, genetic, and
metabolic diseases. Thus far, HRSA has established two programs to implement this section of
the Act:
● The Regional

Genetic and Newborn Screening Service Collaboratives and a National
Coordinating Center for the Collaboratives, and
● Newborn Screening Effective Follow-Up projects.
Regional Genetic and Newborn Screening Service Collaboratives
The fundamental goal of the National Coordinating Center (NCC) and the seven Regional
Genetic and Newborn Screening Service Collaboratives (RCs) is to improve access to quality
genetic health care services within local communities, particularly for newborns and children
having or at risk for heritable condition, across the Nation. Section 1109 of the Act allows the
NCC and RCs to work toward this goal by providing incentives to States for the enhancement,
expansion or improvement of newborn screening programs. These funds help to ensure that, at a
minimum, nearly all infants born in the United States receive screening for the conditions in the
RUSP, with few exceptions.VI
The seven RCs and the NCC were initially funded in 2004 for a period of 3 years as part of the
HDP under the Children‘s Health Act of 2000 (P.L. 106-310). The second stage of HRSA‘s
Regional Genetics and Newborn Screening Services initiative began in 2007 for a period of 5
years. The main goal of this initiative is to improve access to newborn screening and genetic
services, especially for medically underserved populations. The goal of each RC is to (1) enhance
newborn and child screening and related follow-up services for heritable disorders, including an
expansion of LTFU activities; (2) augment workforce capacity through activities such as training
and education; (3) enhance subspecialty access by strengthening communications between medical
homes and tertiary care centers; (4) enhance genetic counseling services; and (5) strengthen State
programs‘ communication and education to families and health practitioners. Each RC also was
responsible for providing the States in its region with access to genetic medicine expertise for

VI

Most States that have not adopted 100 percent of the original RUSP of 29 conditions do not have a statewide
universal mandate for hearing screening. See Part I discussion on State Implementation of the RUSP for further
details.

SACHDNC 2011 Report to Congress

19

subspecialty care and for the ongoing treatment and management of children identified with
genetic disorders through newborn and other screening programs.
Toward this end, the RCs use Federal support to strengthen communication and collaboration
among public health agencies, individuals with genetic disorders, families, primary care
providers, and genetic medicine and other subspecialty providers. The RCs have utilized distance
communication strategies to increase access to genetic services by 47 percent (2009–2010: 1,094
visits; 2008–2009: 517 visits). Ninety-eight percent of States and Territories have evaluated and
made recommendations on implementing the SACHDNC-recommended newborn screening
panel, with 45 of 50 States screening for all core conditions except SCID (29 of 30 conditions).
All States and Territories have systems in place to track entry into clinical management for
newborns who are diagnosed with conditions mandated by their State-sponsored newborn
screening programs or identified for hearing loss. Finally, 17 percent of States and Territories
have systems in place that track receipt of clinical services and/or health outcomes for children
with inborn errors of metabolism covered in newborn screening.
While many gains have been realized, the RCs play an important role in overcoming the
challenges that remain for state newborn screening programs. Although all programs are
increasingly similar with respect the number of conditions for which they screen, substantial
variation persists among newborn screening programs in terms of tracking and follow-up
mechanisms. LTFU has been the source of priority funding to three RCs: New England Genetics
Collaborative (NEGC), Southeast Newborn Screening and Genetics Collaborative (SERC), and
Region 4 Genetics Collaborative. These priority projects focus on the following aspects of LTFU:
● The expansion

of a State model for follow-up to other States in the region (NEGC);
● Building the business case for LTFU, which is now completed and details the elements of a
LTFU information system, and developing the system with evidence and consensus-based
guidelines (SERC); and
● Developing a multiregional information system for inborn errors of metabolism. There are
17 participating clinics with 274 cases entered (Region 4).
To harmonize communication practices, the national LTFU workgroup, housed at the NCC, is
working with newborn screening laboratories and State programs to determine the most useful
types of data to include in LTFU and the form in which it should be provided to state programs
for long-term health outcomes evaluation and utility analyses of programs. Activities of the
LTFU workgroup include the identification and definition of core administrative, clinical, and
laboratory data needed to communicate periodic outcomes of LTFU in a standardized way
(expected to be completed by Summer 2011), creation of a LTFU data dictionary and data
dashboard (summary) based on core data (in progress), and the identification of optimal time
periods for communicating outcomes of LTFU (in progress).
Together these efforts seek to address the inconsistency between state programs of LTFU for
individuals with heritable disorders. With the Secretary‘s official adoption of the RUSP,
including SCID, in May 2010, many State newborn screening programs are in the early stages of
developing robust LTFU systems that can effectively track health outcomes and evaluate public
health programs and systems for these conditions. In the future, as States implement LTFU

SACHDNC 2011 Report to Congress

20

systems, the framework of the RCs and the National Coordinating Center will help to ensure
equal access to services and quality care following newborn screening over the long term.
Newborn Screening Effective Follow-Up Projects
The activities of the HRSA Effective Follow-Up in Newborn Screening Initiative focus on the
use of health information exchange (HIE) to improve the newborn screening system, with
attention to both short- and long-term follow-up. Effective follow-up projects are funded by
HRSA in Colorado, Indiana, New York, and Utah. Achieving the goal of follow-up requires
effective and timely communication and information sharing among patients, families, clinicians,
laboratorians, public health agencies, researchers, and relevant community support services. The
cooperative agreement is intended to implement models that facilitate meaningful electronic HIE
for attaining effective short- and long-term follow-up of children and youths with conditions
identified by newborn screening. The models include a method to capture and analyze clinical
and related variables to determine health outcomes and will provide an assessment of the impact
of LTFU efforts initiated by the newborn screening system.
All four States are taking steps to address vocabulary, coding, messaging, and transport standards
to facilitate HIE. These projects also have measures in place to ensure the privacy and security of
information. In addition to those activities approved in the initial application, for the remaining
year of this initiative, awardees are strongly encouraged to implement ONC‘s Newborn
Screening Use Case and the use of standard electronic messages, documents, and codes as
specified in the HRSA and NIH/National Library of Medicine (NLM) Newborn Screening
Coding and Terminology Guide.

Section 1110: Grant Program to Evaluate the Effectiveness of Screening,
Counseling, or Health Care Services
Section 1110 of the Act authorizes programs to evaluate the effectiveness of screening,
counseling or health care services in reducing the morbidity and mortality caused by heritable
disorders in newborns and children. HRSA funded several projects to address this section of the
Act. In March 2011, HRSA and CDC were delegated the authority from the HHS Secretary to
implement this Section of the Heritable Disorders Program.
1. Newborn Screening from a Family Perspective. Four projects were established to evaluate
family perspectives on screening for heritable disorders in newborns and children, as well
as other newborn screening issues, such as the use and storage of residual blood spots. The
Genetic Alliance along with the State Departments of Health in Iowa, Hawaii, and the
University of Maryland focused on (1) measurement of parental behavior after receiving
false positive screening results; (2) assessment of potential ―harm‖ on children and their
families with notification of false positive screening results; (3) determination of the
information that would be necessary for parental decision making about screening for
conditions that may not have a medically proven treatment; (4) assessment of the impact of
carrier identification, particularly on diverse populations and what information may be
desired by families; and (5) determination of changes in parental attitudes and responses
with increased education and knowledge about newborn screening.

SACHDNC 2011 Report to Congress

21

2. Laboratory Quality Assurance Activity. States were asked to undertake specific newborn
screening public health laboratory quality improvement projects such as enhancing
newborn screening analytical laboratory test performance across the region. Expected
outcomes of the projects were harmonization of case definitions of disorders screened in
newborn screening programs, newborn screening panels, and testing methodologies and
decreasing the number of false positives. The outcome of the project was a worldwide
collaborative effort to achieve clinical validation of cutoff values for newborn screening
by tandem mass spectrometry. An unprecedented level of cooperation (47 U.S. State
newborn screening programs and 45 countries) has allowed the objective definition of
cutoff target ranges for 114 markers to be applied to newborn screening of rare metabolic
disorders. The collaborative project paved the way to a collegial and transparent process
for clinical validation of newborn screening by tandem mass spectrometry. The
collaborative model can be applied to other rare disorders and potentially to any other
laboratory tests for rare disorders if a comparable level of cooperation is achieved. The
critical factors behind the unanticipated expansion of the collaborative project to become
a worldwide initiative have been the gain of mutual trust among participants, the belief of
equal standing of all sites regardless of the magnitude of their contributions, and the
vision to create tools that motivate users to be actively involved.

Section 1112: Clearinghouse of Newborn Screening Information
To implement this section of the Act, in September 2009, MCHB awarded a cooperative
agreement to Genetic Alliance and partners, including the Regional Genetic and Newborn
Screening Service Collaboratives, the March of Dimes, and the Association of Public Health
Laboratories (APHL), to establish the Newborn Screening Clearinghouse (NBSC). The NBSC
was created to increase awareness of newborn screening; improve the understanding and
informed decisionmaking capacity of expectant and new parents, health professionals, industry
representatives, and the public; and maintain current data on quality indicators to measure
performance of newborn screening, such as false-positive rates and other quality indicators as
determined by SACHDNC under Section 1111. Current information available in the NBSC
includes condition-specific information, contact information for the condition-specific advocacy
organizations, information about what conditions each State screens for, data supplied by public
health laboratories, and general information about the process of newborn screening. The NBSC
does not collect patient-specific or personal information but rather aggregate, anonymized
population-based data. The NBSC has made significant progress toward realizing Congress‘
vision for the NBSC. In Fall 2011, BabysFirstTest.org, a streamlined, customizable newborn
screening Web site will be launched.
The NBSC, APHL and HRSA are working together to assess the capabilities of the current
National Newborn Screening Information System and plan for the integration of newborn
screening quality indicators into the NBSC as required by the Act, including approaches for
handling technical solutions to challenges. At present, the NBSC and APHL, in partnership with
State newborn screening laboratories, are drafting documents on quality indicators for newborn
screening that will include appropriate measures to track the success of newborn screening
across the country. APHL will coordinate these activities with input from the NBSC, HRSA, and
CDC. The current and proposed information system does not collect patient-specific or personal
information but rather aggregate, anonymized population-based data.

SACHDNC 2011 Report to Congress

22

With the launch of the Web site, the NBSC will renew its outreach efforts to ensure that the
clearinghouse provides a robust tool for public education about newborn screening. The NBSC
also will continue to fund innovation in the field through challenge awards

Section 1113: Laboratory Quality
Section 1113 requires the establishment of a laboratory quality program acting through the
Director of CDC and in consultation with SACHDNC. CDC‘s Newborn Screening Quality
Assurance Program (NSQAP) must continually broaden its services and produce materials to
meet the public health demand for quality newborn screening tests. Annual HHS appropriations
provide essential support to CDC‘s quality assurance programs and efforts to sustain vital
newborn screening laboratory competence and capacity in states. The NSQAP is the only
comprehensive source of quality assurance materials for dried blood spot testing in the United
States. Accurate screening of newborns using dried blood spots helps prevent severe disability
and death in thousands of children each year. State public health laboratories test more than 98
percent of all babies born in the United States each year for congenital disorders that can have
improved outcomes if diagnosed early. NSQAP develops quality control and proficiency testing
materials to maintain and enhance the quality of their newborn screening test results, conducts
research, and provides technical support and training for emerging newborn screening
technologies.
In conjunction with HHS funds appropriated each year, the Act has allowed NSQAP to expand
its activities in support of newborn screening laboratories across the country and worldwide.
NSQAP purchased new instrumentation to increase capacity, hired permanent staff, and
increased quality assurance material production. Proficiency testing materials are now available
for 48 of the 53 primary and secondary disorders recommended by the SACHDNC, including 41
of the 42 disorders detectable by tandem mass spectrometry. In 2010, NSQAP produced,
certified, and distributed more than 700,000 dried blood spot quality assurance materials to
newborn screening laboratories in the United States and internationally and provided data reports
for newborn screening program evaluation. One hundred percent of U.S. States and 67 countries
participated in NSQAP‘s proficiency testing and quality control programs (for a total of more
than 500 laboratories). In further support of the accuracy of newborn screening tests, NSQAP
continuously evaluates the analytical performance characteristics of the commercial filter paper
that State newborn screening programs use as a collection device for dried blood spots.
NSQAP also is involved in newborn screening contingency operations. In collaboration with the
APHL, NSQAP maintains a national repository of emergency blood collection cards for newborn
screening programs. In 2009, APHL purchased the cards, which are stored at CDC. NSQAP
regularly tests these cards to ensure their operational quality and sustainability for use by
newborn screening programs. This stockpile of materials is a critical resource for state programs
during emergencies, such as natural disasters, or in the event of unexpected, limited commercial
availability of collection cards. In 2010, 75,000 of the emergency collection cards were
distributed to a State in response to their request for help. Several States have made inquiries
regarding the availability of the emergency cards, and the repository is recognized as an
important national resource. Reserve blood collection cards must be continually replenished to
meet demand and to ensure suitability for use.

SACHDNC 2011 Report to Congress

23

For more than 31 years, CDC has conducted research on materials development and assisted
laboratories with quality assurance for dried blood spot screening tests. As States adopt new tests
for additional diseases, NSQAP must extend its services to ensure the quality of these test results
while maintaining support for its current programs. CDC continues to improve the quality of
newborn screening by responding to needs identified by state programs and developing highquality and rugged laboratory methods that better detect newborn diseases.
In the future, CDC plans to strengthen its repository of quality assurance materials for existing
quality assurance programs, such as the hemoglobinopathy and cystic fibrosis programs, based
on population-specific needs within the United States. This will allow for expansion and
diversity in the inventory to facilitate additional newborn screening laboratory participation and
also will address the SACHDNC‘s RUSP. The agency also intends to provide support and
technical assistance as molecular biology technology is incorporated into the routine workflow of
newborn screening laboratories. The Newborn Screening Molecular Quality Improvement
Program will work alongside the State laboratories to enhance good laboratory practice,
determine the educational needs of public health laboratory personnel, and facilitate technology
transfer. Finally, CDC will implement quality assurance programs and will apply appropriated
yearly funds to support newborn screening implementation for recent additions to the RUSP,
such as SCID, in additional States. To complement this effort, CDC will enhance the Newborn
Screening Training Program to support emerging and existing technology education for public
health laboratorians and leaders.

Section 1114: Interagency Coordinating Committee on Newborn and Child
Screening
Section 1114 of the Act requires the Secretary to establish an ICC. The ICC was established to
assess existing activities and infrastructure, including activities on birth defects and
developmental disabilities authorized under section 317C of the PHS Act, in order to make
recommendations for programs to collect, analyze, and make available data on the heritable
disorders recommended by SACHDNC, including data on the incidence and prevalence of, as
well as poor health outcomes resulting from, such disorders; and make recommendations for the
establishment of regional centers for the conduct of applied epidemiological research on
effective interventions to promote the prevention of poor health outcomes resulting from such
disorders as well as providing information and education to the public on such effective
interventions. The legislation indicates that the ICC reports to the Secretary and the appropriate
committees of Congress on its recommendations related to the purpose described previously, and
carry out other activities determined appropriate by the Secretary.
As per the legislation, ICC membership includes the Director of the CDC, the Administrator of
HRSA, the Director of the Agency for Healthcare Research and Quality, and the Director of the
National Institutes of Health, or their designee(s). In the future, the ICC must report to the
Secretary and the appropriate committees of Congress on its recommendations.

Section 1115: National Contingency Plan for Newborn Screening
Section 1115 of the Act directed CDC to consult with the Administrator of HRSA and State
departments of health (or related agencies) to develop a national contingency plan for newborn
screening by October 21, 2008, for use by a State, region, or consortium of States in the event of

SACHDNC 2011 Report to Congress

24

a public health emergency. The framework and draft of the plan were developed in consultation
with national, State, and local partners who convened in September of 2008. The framework then
was shared with Congress.
Most sectors of government have developed plans to ensure continuity in the event of disaster or
emergency. These plans are generally referred to as Continuity of Operations Plans (COOP). A
COOP for a newborn screening program and its public health laboratory should have two basic
features: (1) a comprehensive, pre-identified list of all core testing, support activities, and
supplies that must be maintained if the laboratory experiences a partial or complete operational
disruption; and (2) a prearranged plan of action to ensure that all these core activities are
continued without delay.
Contingency planning for an emergency helps to ensure the availability of critical resources and
the continuity of operations. Contingency planning also sets standards for entities participating in
the activation of the plan. Federal, State, and local entities play critical roles in the screening,
diagnosis, referral, and treatment of disorders identified in newborn screening, especially during
a public health emergency. Adhering to the established standards and maintaining continuity of
testing and follow-up promote optimum execution of the COOP.
In July 2010, CDC and HRSA released the Newborn Screening Contingency Plan (CONPLAN).
The CONPLAN‘s mission guides CDC and HRSA to work with public health newborn
screening partners to ensure a comprehensive and uniform system of screening and continuity of
care for newborns testing positive. The screening covers infants born in the United States for all
SACHDNC-recommended disorders in the event of a public health emergency, as specified in
the Act. The CONPLAN was developed for use as a framework by State and local health
agencies, laboratories, clinicians, and other organizations that are part of the newborn screening
system in the United States. It outlines major supporting actions that each public health official
should consider when planning and preparing for newborn screening contingency operations and
notes the responsible entities for each action.
The CONPLAN also details key roles and responsibilities for public and private health sectors. It
provides a framework for states to develop pre-alert or activation responsibilities with the other
key newborn screening entities within their jurisdictions, as well as a list of threats that may
disrupt normal public health functions. The plan is based on the assumptions that national and/or
regional backup systems and redundancies are required to ensure continuity of newborn
screening operations and that preparations for newborn screening contingencies must occur
before a public health emergency triggers the need for their implementation. Recommendations
related to oversight, coordination, and communications also are included.
The field of emergency preparedness is an evolving one, and the science and systems involved in
newborn screening are always improving. The CONPLAN is subject to amendment based on
such developments, changes to standard operating procedures in stable situations, or information
gathered in disasters. CONPLANs are only as good as the preparation to employ them. They
should be reviewed periodically and, where possible, practiced. Areas for improvement can be
identified through such exercises. CDC and HRSA will continue to work to upgrade the newborn
screening CONPLAN as new technologies develop and lessons are learned through
implementation.

SACHDNC 2011 Report to Congress

25

Critical considerations in the CONPLAN include the following:
● Many States

lack sufficient resources to ensure self-sufficiency through internal backup
systems and redundancy through regionalization.
● Few States have the capacity to absorb a significant increase in screening volume for the
laboratory and follow-up functions in the case of an emergency.
● Because of a lack of standardized screening requirements across States, a State providing
contingency screening for another State may not have the capacity to screen for all
conditions for which the State requiring support usually screens.
● Contingency newborn screening programs may not have the medical expertise needed to
follow up with infants that test positive.
● States need to adopt the CONPLAN as an annex to their existing plans and update it as
needed.
It should be noted that, in its current form, the CONPLAN does not provide detailed
recommendations for the facilitation of access to medical foods, pharmaceuticals, and devices.
This is an important aspect of preparedness, and further efforts to address this component of
strategic objective six should be undertaken. On May 13, 2010, the SACHDNC reviewed and
approved the CONPLAN. The Secretary‘s response to this recommendation is in progress.

Section 1116: Hunter Kelly Research Program
Section 1116 of the Act established the Hunter Kelly Research program and delegated the
authority for this program to NIH. The Act authorized research in newborn screening that
included identifying, developing, and testing the most promising new screening technologies;
experimental treatments and disease management strategies for conditions that can be detected
through newborn screening for which treatment is not yet available; and other activities that
would improve newborn screening as identified by the NIH Director. Research activities are to
take into consideration recommendations from SACHDNC.
Research beginning in the 1960s led to the development of universal screening tests for PKU and
congenital hypothyroidism. Immediate initiation of treatment for affected infants to protect their
developing brains has significantly reduced intellectual and developmental disabilities associated
with these conditions. The Eunice Kennedy Shriver National Institute of Child Health and
Human Development (NICHD) has long led research efforts at NIH to increase the number of
genetic tests and treatments for a wide range of rare and common conditions, now doing so
through the Hunter Kelly Newborn Screening Research Program. This program aims to identify,
develop, and test new screening technologies and promote innovative research on the
management and treatment of conditions that benefit from early identification. The NICHD
strongly encourages investigator-initiated research projects that focus on the aims of the Hunter
Kelly Newborn Screening Research Program.
Multiple challenges face researchers in the field of newborn screening: the small number of
individuals with rare diseases and the geographic distance between patients, multiple competing
technologies being used for screening, variability of regulations for screening across states and
regions, and the lack of an infrastructure to connect existing resources. To address these and
other critical needs, the NICHD, through the Hunter Kelly Newborn Screening Research
Program, funds the Newborn Screening Translational Research Network (NBSTRN). The
SACHDNC 2011 Report to Congress

26

NBSTRN has developed an infrastructure designed to support researchers who are developing
new screening methods, studying candidate disorders being considered for screening, initiating
clinical trials that test new therapeutic interventions, and pursuing longitudinal research on the
long-term health of children identified through newborn screening programs. Through an
organized network of state newborn screening programs and clinical centers, the NBSTRN is
implementing a research informatics system for use by investigators; administering a virtual
repository of residual dried blood spots available for studies, which allows investigators to search
for and request residual dried blood spots nationwide and subsequently acquire the dried blood
specimen if approved by the State holding the specimen32; and facilitating the timely
dissemination of new findings gathered by researchers.
The Hunter Kelly Research Program also supports numerous grants and contracts to develop and
improve technologies related to newborn screening. One current project awarded to the Mayo
Clinic is comparing different experimental tests that have been developed to screen for Lysosomal
Storage Diseases, a group of progressive metabolic disorders not widely screened for at this time,
and evaluating their effectiveness in a side-by-side comparison. Another project involves a
multistate collaborative effort, with infrastructure support from the NBSTRN, to evaluate
screening tools that test for SCID. This multistate project screened approximately 500,000, a
sample of newborns that was large enough to identify children with this rare disease and to
evaluate the efficacy of the test on a large scale in several State newborn screening laboratories.
The NICHD, the National Institute of Neurological Disorders and Stroke, the National Institute
of Deafness and other Communication Disorders, and National Institute of Diabetes Digestive
and Kidney Diseases have an ongoing collaborative initiative to stimulate translational research
on potential therapeutic interventions for conditions currently screened by States, as well as other
high-priority genetic conditions for which screening might be possible in the near future. The
initiative has placed special emphasis on research related to some of the high-priority conditions,
defined as those for which the development of an efficacious therapy would make the condition
amenable to newborn screening. A sample of currently funded projects include research related
to new or improved treatments of gamma-hydroxybutyric aciduria, hyperammonemia, Gaucher‘s
disease, spinal muscular atrophy, galactosemia, Krabbe disease, and PKU.
In 2011, the NICHD will award two grants to study the natural history of disorders that are
currently identified by newborn screening or could benefit from early identification by newborn
screening. A comprehensive understanding of the natural history of a disorder has been identified
as a necessary element to facilitate appropriate interventions for infants identified by newborn
screening. By defining the sequence and timing of the onset of symptoms and complications of a
disorder, a valuable resource will be developed for the newborn screening community.
On December 13–14, 2010, the NICHD, the National Human Genome Research Institute, and
the Office of Rare Diseases Research sponsored a workshop, Newborn Screening in the Genomic
Era: Setting a Research Agenda. The purpose of the meeting was to identify elements of a transNIH research agenda that would lead to the application of new genomics concepts and
technologies to newborn screening and child health. The meeting was attended by experts from
academia, industry, and Federal agencies in the fields of newborn screening and genomics.

SACHDNC 2011 Report to Congress

27

CONCLUSION: The Future of Screening for Heritable Disorders
Vast improvements in the Nation‘s ability to screen for and prevent adverse outcomes from
heritable disorders in newborns and children have occurred since SACHDNC‘s creation. State
newborn screening programs are the beneficiaries of ongoing rapid advances in science,
technology and disease prevention. As a result, they are presented with new opportunities that
simultaneously pose difficult public policy challenges. As leaders of the Nation‘s efforts to
prevent the potentially devastating consequences of heritable disorders in newborns and children,
SACHDNC, Federal health officials, and Congress remain important partners for States as they
grapple with ethical, social, technological, financial, and other concerns. These issues must be
addressed in order to ensure that all children in the United States have equal access to screening
and follow-up services that take advantage of scientific progress and operate in a system capable
of incorporating new tools such as HIT that can positively impact the quality of services.
The success of State newborn screening programs hinges to a large degree on public awareness
and understanding of the program‘s goals and the individual‘s rights. Public mistrust as a result
of perceived infringement on privacy and confidentiality could negatively affect this important
public health program. Therefore, sensitive issues such as State policies on the retention and use
of residual dried blood spots need to be resolved quickly to maintain high public acceptance of
screening programs. Ongoing public education about, and awareness of, newborn screening and
related policies is integral to securing public trust.
Increased communication among other stakeholders, including clinicians, consumers, public
health departments, and laboratories, will improve services for the Nation‘s babies and their
families. HIT is an important tool to facilitate better newborn screening and support
communication and coordination efforts. Currently, State newborn screening programs conduct
different tests and collect different data. HIT provides a mechanism to link and standardize this
information. SACHDNC has recommended that the requirements of newborn screening
information [laboratory orders; conditions screened] are included in Federal standards and
regulations for HIT. Specifically, ONC developed a Newborn Screening Use Case in 2008 (see
Part I, Heritable Disorders, Newborn Screening, and Health Care Reform section for further
information), and SACHDNC has endorsed the Newborn Screening Coding and Terminology
Guide, which is HRSA and NLM guidance on standards for interoperability for electronic
reporting of the results of newborn screening tests.33
As State newborn screening programs are integrating the use of information technology into their
programs, advances in medical technology are poised to transform the newborn screening
landscape once again. For example, researchers have applied digital microfluidics, a technique
that ―manipulates liquids as discrete microdroplets under software control,‖ to a miniature testing
platform that allows all laboratory steps involved in newborn screening, including ―sampling,
sample preparation, sample-processing, mixing, incubation, and detection to waste handling‖ on
a chip.34 This technology may allow more cost-effective population-based screening and more
efficient use of the available specimen collected from newborns, thereby enabling continued
expansion of newborn screening tests, if recommended, without requiring additional specimen
collection.35

SACHDNC 2011 Report to Congress

28

Technologic developments have implications for the future of disease management of children
affected by heritable disorders identified by newborn screening. Lab-on-a-chip technology
allows screening within the clinic setting.36 Future developments in the medical device industry
may permit at home monitoring of newborns and children with heritable disorders. For example,
a child with pulmonary or cardiac compromise could remain at home, while the parents
participate in the monitoring of the child‘s health status. This could facilitate the collection of
data on treatment response and health outcomes. Such portable monitoring devices could
empower parents by providing access to their child‘s health information in an easily understood
format, such as graphs that demonstrate changes in a measurable health data point of interest.
Continued coordinated efforts to assist in the implementation of new technologies as they are
applied to the screening, diagnosis and management of heritable disorders will help to ensure
equal access to improvements in health care across the nation.
Improvements in technology may bring screening for heritable disorders beyond the newborn
period to children and adolescents. For example, screening for conditions such as Duchenne
muscular dystrophy or fragile X syndrome beyond the newborn period may be deemed beneficial
based on the weight of scientific evidence. This will bring up questions about the systems that
are appropriate for ensuring that screening outside of the newborn period occurs.
Screening for heritable disorders may affect older children
Homozygote: an individual
in other ways. The identification of infants or children who
who has inherited identical
may be carriers for conditions that may be passed on to
alleles at a particular locus
offspring is a current challenge for State newborn
screening programs that is expected to grow as an issue of
Heterozygote: an individual
concern in the future. At present, stakeholders in newborn
who has inherited different
screening contemplate how to handle the identification of
forms of a particular gene from
carriers for conditions such as cystic fibrosis or sickle cell
each parent, usually one normal
disease. As technology progresses, information with longand one abnormal
term value will become increasingly available. For
example, currently there is screening for rare alleles that
Source: National Library of
result in early-onset disease in the case of homozygotes.
Medicine, Genetics Home
Scientific advances may reveal that these rare alleles have
implications for heterozygotes by placing them at increased Reference,
http://ghr.nlm.nih.gov/
risk for certain adult chronic conditions such as Parkinson
syndrome. Together, State newborn screening programs,
the public and policymakers will need to consider how to handle information that genetic
screening generates at any age that might have few short-term implications but is of importance
in the long-term health of individuals. At present, a SACHDNC Workgroup on Carrier Screening
is examining criteria for which disorders might be introduced to a panel.
Not all needs and challenges are driven by technology. While most birth defects, developmental
disorders, and common complex disorders have environmental causes or contributing factors,
they are fundamentally heritable disorders. Understanding the genetic contribution to health or
developmental problems is critical to the delivery of appropriate health care for each child. In the
future, SACHDNC will need to consider how best to encourage development and application of
programs and policies that will improve health and developmental outcomes of newborns and
children born with any heritable disorder, whether or not the condition is appropriate to be
SACHDNC 2011 Report to Congress

29

included in newborn screening or screening of older children. Understanding genetic
contribution to disease can lead to identification of more appropriate management and improved
accuracy in prediction of outcomes and future needs for families and for communities. The
application of genetic technology to pharmacogenetics is already in progress, with
pharmacogenetic experts proposing incorporation of genomic information in the prescribing of
medications ranging from antidepressants and asthma therapies to management of pain and
obesity. The controversies around, and the increasing uptake of, direct to consumer genetic
testing are receiving attention, and families are interested in exploring broad genetic testing for
their children. Newborns and children will need to be assured of safe and appropriate use of
existing and future genetic information and technology that has promise in the treatment of
conditions as diverse as PKU, Down syndrome, and asthma. As these technological and system
changes unfold, SACHDNC, Federal health officials, and Congress must be prepared to assist
and advise States and the public. The coordinated efforts of stakeholders, including
policymakers, public health agencies, providers, and the public, will help to ensure that
newborns and children have equal access to new genetic technologies as they are incorporated
into health and public health services.

SACHDNC 2011 Report to Congress

30

Appendix A: Conditions Screened for by State Newborn Screening Programs
Revised from NNSGRC as of April 2011 (http://genes-r-us.uthscsa.edu/nbsdisorders.htm) based on legislation or policies

Table of Core1 Conditions
Hearing Endocrine Endocrine Hemoglobin Hemoglobin Hemoglobin Other Other Other Other
Additional Conditions Included in Screening Panel
STATE
HEAR
CH
CAH
Hb S/S
Hb S/A
Hb S/C
BIO GALT CF SCID
(universally required unless otherwise indicated)









Alabama









Alaska
A








Arizona









Arkansas
B








A
California
HHH; PRO; EMA ; OTC, MTHFR (D)
A








Colorado
2









Connecticut
HHH; HIV ; NKH









D.C.
G6PD









Delaware









Florida
A








Georgia









Hawaii
A








Idaho
2









Illinois
Pompe, Gaucher, Fabry (B) CPS (D), NKH, 5-OXO, HIV









Indiana









Iowa









Kansas
B








Kentucky









A
Louisiana
A








Maine
HHH; CPS (D)









Maryland
EMA









A
Massachusetts
TOXO; HHH, CPS (D)









C
Michigan









Minnesota









Mississippi
5-OXO; CPS; HHH









Missouri









Montana
A








Nebraska
5-OXO; HHH; NKH (A)
B








Nevada
New
A








TOXO
Hampshire









New Jersey

SACHDNC 2011 Report to Congress

31

STATE
New Mexico
New York
North Carolina
North Dakota
Ohio
Oklahoma
Oregon
Pennsylvania
Rhode Island
South Carolina
South Dakota
Tennessee
Texas
Utah
Vermont
Virginia
Washington
West Virginia
Wisconsin
Wyoming

Hearing Endocrine Endocrine Hemoglobin Hemoglobin Hemoglobin Other Other Other Other
HEAR
CH
CAH
Hb S/S
Hb S/A
Hb S/C
BIO GALT CF SCID






















































A















































C





B







































































A



































B







































































A







































































1



Additional Conditions Included in Screening Panel
(universally required unless otherwise indicated)
HIV; HHH; Krabbe Disease
HHH; NKH

5-OXO; CPS; G6PD; HHH; NKH (B)

5-OXO; EMA; HHH; NKH
HHH; NKH
B



Terminology consistent with the following report: American College of Medical Genetics. (2006). Newborn screening: Towards a uniform screening panel and system.
Genetics in Medicine, 8 (5 Suppl), S12–S252.

2

Newborn screened for HIV only if mother was not screened during pregnancy.

Dot ―‖indicates that screening for the condition is universally required by Law or Rule and fully implemented
A = universally offered but not yet required
B = Required through hospitals with specific per annum births or by parental request
C = testing required but not yet implemented
D = likely to be detected (and reported) as a byproduct of MRM screening (MS/MS) targeted by Law or Rule
List of abbreviations for the table is available on page 35.

SACHDNC 2011 Report to Congress

32

Table of Core1 Conditions-Metabolic

STATE
Alabama
Alaska
Arizona
Arkansas
California
Colorado
Connecticut
D. of Columbia
Delaware
Florida
Georgia
Hawaii
Idaho
Illinois
Indiana
Iowa
Kansas
Kentucky
Louisiana
Maine
Maryland
Massachusetts
Michigan
Minnesota
Mississippi
Missouri
Montana
Nebraska
Nevada
New Hampshire
New Jersey
New Mexico
New York
North Carolina
North Dakota
Ohio

Fatty
Fatty
Fatty
Fatty
Fatty
Organic Organic Organic Organic Organic Organic Organic Organic Organic
Amino
Amino
Amino
Amino
Amino
Amino
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders
CUD LCHAD MCAD TFP VLCAD GA-I
HMG
IVA 3-MCC Cbl-A,B BKT
MUT PROP MCD
ASA
CIT
HCY MSUD PKU TYR- I









D




























































































































































































































































































































































































































D




D




D

































































SACHDNC 2011 Report to Congress

























































































































33
























































































































STATE
Oklahoma
Oregon
Pennsylvania
Rhode Island
South Carolina
South Dakota
Tennessee
Texas
Utah
Vermont
Virginia
Washington
West Virginia
Wisconsin
Wyoming

Fatty
Fatty
Fatty
Fatty
Fatty
Organic Organic Organic Organic Organic Organic Organic Organic Organic
Amino
Amino
Amino
Amino
Amino
Amino
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders
CUD LCHAD MCAD TFP VLCAD GA-I
HMG
IVA 3-MCC Cbl-A,B BKT
MUT PROP MCD
ASA
CIT
HCY MSUD PKU TYR- I























































































































































































D








































1
































































































Terminology consistent with the following report: American College of Medical Genetics. (2006). Newborn screening: Towards a uniform screening panel and system. Genetics
in Medicine, 8 (5 Suppl), S12–S252.

2

Newborn screened for HIV only if mother was not screened during pregnancy.

Dot ―‖ indicates that screening for the condition is universally required by Law or Rule and fully implemented
A = universally offered but not yet required
B = Required through hospitals with specific per annum births or by parental request
C = testing required but not yet implemented
D = likely to be detected (and reported) as a byproduct of MRM screening (MS/MS) targeted by Law or Rule
List of abbreviations for the table is available on page 35.

SACHDNC 2011 Report to Congress

34

Table of Secondary Target1 Conditions

Fatty Acid Fatty Acid Fatty Acid
Disorders Disorders Disorders

STATE
CACT

Alabama

Alaska
D
Arizona
Arkansas

California

Colorado

Connecticut

D. of Columbia

Delaware

Florida
D
Georgia

Hawaii

Idaho

Illinois

Indiana

Iowa
Kansas
A
Kentucky
Louisiana
D
Maine

Maryland
D
Massachusetts

Michigan

Minnesota

Mississippi

Missouri
D
Montana
D
Nebraska

Nevada
New
D
Hampshire

New Jersey
A
New Mexico

New York

North Carolina

North Dakota

Ohio

Oklahoma

Oregon
B
Pennsylvania
Rhode Island

South Carolina

Fatty Acid
Disorders

CPT-Ia

CPT- II


D



D



D


D


D









D












D






A

A

D

D




D




A




D
D


D




D



A






B













D
B
D


DE-RED.

Organic Organic Organic Organic Organic Organic
Amino
Fatty Acid Fatty Acid Fatty Acid Fatty Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders




D


GA-II

MCKAT M/SCHAD SC AD 2M3HBA



D




D
D


3MGA

Cbl-C,D






D



D







D


















D



D

D

D







A


A


A

D
D

2MBG



D


D


A

D
D


A




D
D













B


A






B







SACHDNC 2011 Report to Congress






















D

D


D



D






D






D






D






D








A

A

A

A

A



D




D
D



D


A

D
D


D

D




D
D


D

D




D
D









D
D


D

D




D
D



D


B








D

ARG




D


A






B

D

MAL











IBG




Amino
Acid
Disorders

Amino
Acid
Disorders

CIT-II

H-PHE

MET


B


B



D



D






D










D












D






A

A

A

D

D




D
D




D
A



D
D


D

D
A

A

D
D

BIOPT-BS BIOPT-RG

Amino
Amino
Amino
Amino
Amino
Acid
Acid
Acid
Acid
Acid
Other
Other
Disorders Disorders Disorders Disorders Disorders Metabolic Metabolic

A
D

A
D







A






B
B
D



B
B
D



D


D



A

A

D

D

A


A
D












D


D


B
D


A

D
D
B

B
D


A

D
D
B



A




D
D








D










D








TYR- II TYR- III GALE

D
D





D

D

D

D



D

D

D



D


A



D





D
B


D



D



B


B






D
B









B


A






B


B
B


B
B


A






B


A






B


A






B


D





D
B


















A
















35


D
B



D







B

B









B
B
B

B
B
B



D



D








B


B



















A








B


B

B




B





















D





D
B



GALK

Hbg

Variant
Hbg’s

STATE
South Dakota
Tennessee
Texas
Utah
Vermont
Virginia
Washington
West Virginia
Wisconsin
Wyoming

Fatty Acid Fatty Acid Fatty Acid
Disorders Disorders Disorders

CACT

CPT-Ia

CPT- II



D

D
D
D
D

A



D

D
D



D

D
D
D
D

A

D
A

Fatty Acid
Disorders

DE-RED.

C

D

A

Organic Organic Organic Organic Organic Organic
Amino
Fatty Acid Fatty Acid Fatty Acid Fatty Acid
Acid
Acid
Acid
Acid
Acid
Acid
Acid
Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders Disorders

GA-II


D

D
D
D
D

A

MCKAT M/SCHAD SC AD 2M3HBA

D
C
D
D
D
D

A


C

D

A



C




D


D

A

D
D
D

A

2MBG

3MGA

Cbl-C,D

IBG

MAL

ARG



D

D
D
D
D

A



D
D
D
D
D
D

A



D


D
D
D

A



C




C
D



C

D

1

D

A

D

D

A

A

Amino
Acid
Disorders

Amino
Acid
Disorders



D




D


D
D
D


D
D
D


BIOPT-BS BIOPT-RG

Amino
Amino
Amino
Amino
Amino
Acid
Acid
Acid
Acid
Acid
Other
Other
Disorders Disorders Disorders Disorders Disorders Metabolic Metabolic

CIT-II

H-PHE

MET



D


D

D

A






D
D






D

D
D
D
D

A

TYR- II TYR- III GALE


D

D
D



D

D
D

D

A

D

B






D


D





Terminology consistent with the following report: American College of Medical Genetics. (2006). Newborn screening: Towards a uniform screening panel and system. Genetics in Medicine, 8 (5 Suppl), S12–S252.

2

Newborn screened for HIV only if mother was not screened during pregnancy.

Dot ―‖ indicates that screening for the condition is universally required by Law or Rule and fully implemented
A = universally offered but not yet required
B = Required through hospitals with specific per annum births or by parental request
C = testing required but not yet implemented
D = likely to be detected (and reported) as a byproduct of MRM screening (MS/MS) targeted by Law or Rule
List of abbreviations for the table is available on page 35.

SACHDNC 2011 Report to Congress

36

GALK

Hbg

Variant
Hbg’s











List of abbreviations for the preceding tables
Table of Core Conditions Conditions/Abbreviations and Names
BIO

Biotinidase

CF

CAH

Congenital adrenal hyperplasia CH

Transferase deficient galactosemia
HB S/C Sickle – C disease HEAR
(Classical)

Cystic fibrosis

GALT

Congenital
hypothyroidism

HB S/S Sickle cell anemia

HB S/A S-βeta thalassemia SCID

Hearing screening
Severe Combined Immunodeficiency

Table of Core Conditions-Metabolic Deficiency/Disorder Abbreviations and Names (optional nomenclature)
3-MCC

3-Methylcrotonyl-CoA carboxylase

CUD

Carnitine uptake defect
(Carnitine transport defect)

ASA

Argininosuccinate aciduria

GA-1

Glutaric acidemia type 1

BKT

Beta ketothiolase (mitochondrial
acetoacetyl-CoA thiolase ; short-chain
ketoacyl thiolase; T2)

HCY

Homocystinuria (cystathionine
beta synthase)

CBL A,B

Methylmalonic acidemia
(Vitamin B12 Disorders)

CIT I

Citrullinemia type I
(Argininosuccinate synthetase)

3-Hydroxy 3 - methylglutaric
HMG aciduria (3-Hydroxy 3methylglutaryl-CoA lyase )
Isovaleric acidemia (IsovalerylIVA
CoA dehydrogenase )

Long-chain L-3- hydroxyacyl-CoA
PKU
dehydrogenase
Medium-chain acyl-CoA
MCAD
PROP
dehydrogenase

Phenylketonuria/
hyperphenylalaninemia
Propionic acidemia (Propionyl-CoA
carboxylase)

LCHAD

MCD

MSUD
MUT

Multiple carboxylase
(Holocarboxylase synthetase )
Maple syrup urine disease
(branched-chain ketoacid
dehydrogenase )
Methylmalonic Acidemia
(methylmalonyl-CoA mutase)

TFP

Trifunctional protein deficiency

TYR-1

Tyrosinemia Type 1

VLCAD Very long-chain acyl-CoA dehydrogenase

Table of Secondary Conditions Deficiency/Disorder Abbreviations and Names (optional nomenclature)
2-Methyl-3-hydroxy butyric
aciduria
2-Methylbutyryl-CoA
2MBG
dehydrogenase
3MGA
3-Methylglutaconic aciduria
ARG
Argininemia (Arginase deficiency)
Defects of biopterin cofactor
BIOPT-BS
biosynthesis
Defects of biopterin cofactor
BIOPT-REG
regeneration
2M3HBA

CACT

Glutaric acidemia
Type II

MAL

GALE

Galactose epimerase

MCKAT Medium-chain ketoacyl-CoA thiolase

GALK
H-PHE

Galactokinase
Benign hyperphenylalaninemia

MET
SCAD

TYR-II Tyrosinemia type II

Carnitine acylcarnitine translocase GA-II

Malonic acidemia
(Malonyl-CoA decarboxylase)

CIT-II
CPT-Ia

Methylmalonic acidemia
(Cbl C,D)
Citrullinemia type II
Carnitine palmitoyltransferase I

CPT-II

Carnitine palmitoyltransferase II

IBG

Isobutyryl-CoA dehydrogenase

De-Red

Dienoyl-CoA reductase

M/SCHAD

Medium/Short chain L-3-hydroxy
TYR-III Tyrosinemia type III
acyl-CoA dehydrogenase

CBL-C,D

Hypermethioninemia
Short-chain acyl-CoA dehydrogenase

Table of Core Conditions-Additional Conditions Included in the Screening Panel Other Disorders
5-OXO
CPS
EMA

5-oxoprolinuria (pyroglutamic aciduria)
Carbamoylphosphate synthetase
Ethylmalonic encephalopathy

SACHDNC 2011 Report to Congress

G6PD
HHH
HIV

Glucose 6 phosphate dehydrogenase
Hyperammonemia/ornithinemia/ citrullinemia (Ornithine transporter defect)
Human immunodeficiency virus

37

NKH
PRO
TOXO

Nonketotic hyperglycinemia
Prolinemia
Toxoplasmosis

Appendix B: SACHDNC Publications
The list of SACHDNC publications below includes journal articles, reports, white papers, and
meeting summaries. These documents are available on the SACHDNC Web site at
http://www.hrsa.gov/heritabledisorderscommittee/default.htm.
Statement—What Questions Should Newborn Screening Long-Term Follow-Up Be Able to
Answer?: A Statement of the United States Secretary for Health and Human Services
Advisory Committee on Heritable Disorders in Newborns and Children (publication in
journal forthcoming)
Briefing Paper—Screening U.S. College Athletes for Their Sickle Cell Disease Carrier Status
(October, 2010)
Briefing Paper—Considerations and Recommendations for a National Policy Regarding the
Retention and Use of Dried Blood Spot Specimens After Newborn Screening (September,
2010)
Journal Review—An Evidence Development Process for Newborn Screening (March, 2010)
Journal Commentary—A Blueprint for Maternal and Child Health Primary Care Physician
Education in Medical Genetics and Genomic Medicine (March, 2010)
Journal Commentary—Method for Evaluating Conditions Nominated for Population-Based
Screening of Newborns and Children (March, 2010)
Report—Long-Term Follow-Up After Diagnosis Resulting From Newborn Screening (April,
2008)
Report—Advancing the Current Recommended Panel of Conditions for Newborn Screening
(November, 2007)
Meeting Summary—The Road Map to Implement Long-Term Follow-Up and Treatment in
Newborn Screening (April 18, 2007)
Meeting Summary—Evidence-Based Evaluation and Decision Process Workgroup Meeting
Summary and Recommendations (October 23, 2006)

SACHDNC 2011 Report to Congress

38

Appendix C: List of the SACHDNC Recommendations to the HHS Secretary and Outcomes
TOPIC: Critical Congenital Heart Disease
SACHDNC RECOMMENDATION: On October 15, 2010, SACHDNC
recommended to the HHS Secretary the addition of ―critical congenital cyanotic
heart disease (CCCHD) to the recommended uniform screening panel with the
understanding that the following activities will also take place in a timely
manner:
(1) The National Institutes of Health (NIH) shall fund research activities to
determine the care provided and the health outcomes of affected newborns with
critical congenital cyanotic heart disease as a result of prospective newborn
screening;
(2) the Centers for Disease Control and Prevention (CDC) shall fund
surveillance activities to monitor the critical congenital cyanotic heart disease
link to infant mortality and other health outcomes;
(3) the Health Resources and Services Administration (HRSA) shall guide the
development of screening standards and infrastructure needed for the
implementation of a public health approach to point of service screening for
critical congenital cyanotic heart disease; and
(4) HRSA shall fund the development of, in collaboration with public health
and health care professional organizations and families, appropriate education

SACHDNC 2011 Report to Congress

and training materials for families and public health and health care
professionals relevant to the screening and treatment of CCCHD.‖
SECRETARY’S RESPONSE: On April 21, 2010, the Secretary rejected
SACHDNC recommendations, stating, ―As you noted in your letter, there are
‗recognizable evidence gaps‘ regarding screening for Critical Congenital
Cyanotic Heart Disease. After consultation with HHS agency leadership, I have
determined that the Advisory Committee‘s recommendations are not ready for
adoption. However, because this is such an important issue, I am referring these
recommendations to the newly established Interagency Coordinating
Committee on Newborn and Child Screening (ICC) for additional review and
input regarding implementation.
The ICC includes the National Institutes of Health, Centers for Disease Control
and Prevention, Health Resources and Services Administration, Agency for
Healthcare Research and Quality, and the Food and Drug Administration. ICC
leadership will examine the evidence gaps described by the Advisory
Committee, and propose a plan of action to address identification of effective
screening technologies, development of diagnostic processes and protocols,
education of providers and the public, and strengthening service infrastructure
needs for follow-up and surveillance. The ICC will report this plan to me within
90 days, and I will keep you and the Advisory Committee informed.‖

39

TOPIC: The use and retention of residual newborn screening blood specimens
SACHDNC RECOMMENDATION: On October 13, 2010, in order to
address the potential to advance science and clinical care for newborns,
children, their families and society through the use of residual newborn
screening blood specimens and to protect those valuable resource for the public
good SACHDNC made the following recommendations to the Secretary:
―(1) All State newborn screening programs should have a policy in place that
has been reviewed by the State Attorney General or other appropriate legal
authority that specifies who may access and use dried blood specimens once
they arrive at the State-designated newborn screening laboratory, including
further access after newborn screening tests are completed.
(2) All State newborn screening programs should have a policy in place that has
been reviewed by the State Attorney General or other appropriate legal
authority addressing the disposition of dried blood specimens remaining after
newborn screening. Policymakers should consider the value of the specimens as
a promising resource for research, the protection of the privacy and
confidentiality of families and the necessity of ensuring the public‘s trust.
(3) All State newborn screening programs should develop a well-defined
strategy to educate health care professionals who provide patients with prenatal
and postnatal care about newborn screening and the potential uses of residual
dried blood specimens.
(4) All State newborn screening programs should create policies that are in
compliance with Federal research regulations, ensure that parents are aware of
these activities, and consider whether documentation of parents‘ wishes and
willingness to participate are required.

SACHDNC 2011 Report to Congress

(5) All State newborn screening programs should work proactively to ensure
that all families of newborns are educated about newborn screening as a part of
prenatal and postnatal care.
(6) The Secretary of Health and Human Services should help improve efforts to
educate the public and health care providers about newborn screening and the
retention and use of specimens.
(7) The Secretary of Health and Human Services should facilitate a national
dialogue among Federal and State stakeholders about policies for the retention
and use of residual newborn screening specimens, including model consent and
dissent processes.
(8) The Secretary of Health and Human Services should explore the feasibility
of establishing a voluntary national repository of residual dried blood
specimens, in which families may choose to participate.
SECRETARY’S RESPONSE: On April 13, 2011, the Secretary rejected
SACHDNC recommendations, stating, ―At this time, the Committee
recommendations are not ready for adoption. Therefore, I am referring the
Committee‘s report, Considerations and Recommendations for a National
Policy Regarding the Retention and Use of Dried Blood Spot Specimens After
Newborn Screening to the Interagency Coordinating Committee on Newborn
and Child Screening (ICC) for their review and input regarding possible future
implementation of the recommendations. The use of the ICC allows a more
formal engagement of the Office of Human Research Protections and Office of
Civil Rights, along with the Federal agencies assigned to the ICC by its
authorizing legislation. I will encourage the ICC to submit a report with
recommendations for appropriate HHS action by June 1, 2012.‖

40

TOPIC: Revisions to June 2010 recommendations regarding screening U.S. college athletes for their sickle cell disease carrier status
SACHDNC RECOMMENDATION: On October 11, 2010, SACHDNC
recommended to the Secretary the following revisions to recommendations
made on June 14, 2010. The revisions were considered refinements to add
clarity to the original SACHDNC recommendations, rather than changes in the
content of the recommendations (changes below are italicized for emphasis):

should take place within the individual‘s medical home. That evaluation should
include counseling regarding the implications of the information for the
individual and assurance of the privacy of genetic information. Genetic testing
should not be a prerequisite for participation in sports, unless deemed medically
necessary.

―Original: Recommendation 1: All individuals should know their medical risk
for various disorders, including their carrier status for various inherited genetic
conditions such as sickle cell disease.

Original: Recommendations 4, 5, and 6: No Changes

Revised: Recommendation 1: All individuals should have the opportunity to
find out their risk for various medical disorders, including their carrier status for
genetic conditions such as sickle cell disease.
Original: Recommendations 2: Genetic testing or screening should not be a prerequisite for participation in athletic endeavors.
Original: Recommendations 3: Evaluation and screening for sickle cell disease
and other genetic conditions should take place within the individual‘s medical
home. That evaluation should include counseling regarding the implications of
the information for the individual and assurance of the privacy of genetic
information.

Recommendation 3: As part of the individual‘s annual medical evaluation for
participation in sports, all potential athletes should receive education on safe
practices for prevention of exercise and heat related illnesses.
Recommendation 4: The Secretary, HHS, instruct SACHDNC to work with the
SCDAA, relevant Federal HHS agencies, athletic associations, community
based and health care professional organizations to develop guidelines and
educational resources about screening for sickle cell trait in all persons,
including athletes.
Recommendation 5: The National institutes of Health and the Centers for
Disease Control and Prevention conduct research to ascertain if some athletes
with sickle cell trait are at increased risk of exercise-related sudden death.‖
SECRETARY’S RESPONSE: Pending

Revised: Recommendation 2 (combining Recommendations 2 and 3):
Evaluation and testing for sickle cell disease and other genetic conditions

TOPIC: National Contingency Plan for NBS
SACHDNC RECOMMENDATION: On June 14, 2010, SACHDNC
recommended to the Secretary, ―In order to establish a comprehensive national
all hazards approach to newborn screening incident response, the SACHDNC
recommends that the Secretary of HHS coordinate newborn screening

SACHDNC 2011 Report to Congress

emergency preparedness activities, as defined in the CONPLAN, within HHS‘s
National Response Framework.‖
SECRETARY’S RESPONSE: Pending

41

TOPIC: Screening U.S. college athletes for their sickle cell disease carrier status
SACHDNC RECOMMENDATION: On June 14, 2010, SACHDNC
recommended the following to the Secretary:
―(1) All individuals should know their medical risk for various disorders,
including their carrier status for various inherited genetic conditions such as
sickle cell disease.
(2) Genetic testing or screening should not be a pre-requisite for participation in
athletic endeavors.
(3) Evaluation and screening for sickle cell disease and other genetic conditions
should take place within the individual‘s medical home. That evaluation should
include counseling regarding the implications of the information for the
individual and assurance of the privacy of genetic information.

(4) As part of the individual‘s annual medical evaluation for participation in
sports, all potential athletes should receive education on safe practices for
prevention of exercise and heat related illnesses.
(5) The Secretary, HHS, instruct SACHDNC to work with the SCDAA,
relevant Federal HHS agencies, athletic associations, community based and
health care professional organizations to develop guidelines and educational
resources about screening for sickle cell trait in all persons, including athletes.
(6) The National Institutes of Health and the Centers for Disease Control and
Prevention conduct research to ascertain if some athletes with sickle cell trait
are at increased risk of exercise-related sudden death.‖
SECRETARY’S RESPONSE: Recommendations were revised in the October
11, 2010, letter.

TOPIC: Insurance coverage for medical foods
SACHDNC RECOMMENDATION: On June 14, 2010, SACHDNC
recommended to the Secretary that as the Department developed specific
regulations for implementation of health reform, the Department would ensure
that families with individuals diagnosed with inborn errors of metabolism have
access to health coverage that includes the following essential components of
treatment:

(3) Families should have access to these essential benefits irrespective of the
source of their health coverage, including private plans, federally supported
programs such as Medicaid, the Children‘s Health Insurance Program,
TRICARE, and the Indian Health Service, as well as plans participating in, the
Federal Employees Health Benefits program, and should not be subject to state
exclusions.‖

―(1) Medical foods (as defined by the Food and Drug Administration and, in
addition, for those conditions recommended by the Committee) delivered either
orally or by tube (both are enteral) and foods modified to be low in protein that
are prescribed by a physician should be considered medical benefits (and be
included as essential health care services, and should not be restricted to
pharmacy benefits);

SECRETARY’S RESPONSE: On December 14, 2010, the Secretary rejected
SACHDNC‘s recommendations, stating, ―As you are aware, the Department
must follow the relevant language of the Affordable Care Act in determining
essential health benefits. The statute states that essential health benefits shall
include at least ten general categories specified in the law and the items and
services covered within these categories. Additionally, the scope of benefits
must be equal to that provided under a typical employer-sponsored plan and the
determination of the scope of benefits should be informed by a survey
conducted by the Department of Labor. The statute also states that benefit
packages must be balanced appropriately across service categories and must be
constructed in ways that do not discriminate against individuals because of their
age or condition.

(2) Individuals of all ages who are diagnosed with one or more of the conditions
recommended by the Committee should be considered high risk and HHS
regulations should ensure that they can access comprehensive coverage. This
can best be accomplished through private health plans or publically supported
programs such as Medicaid and high risk pools that cover medically necessary
treatments – including medical foods and modified low protein foods; and

SACHDNC 2011 Report to Congress

42

The Administration and this Department have moved quickly to develop a
process for determining essential health benefits. A survey is being conducted
by the Department of Labor to inform our determination of a typical employersponsored plan. The results are expected in March of next year. We are also
seeking advice from the Institute of Medicine on considerations to be taken into
account with regard to essential health benefits both initially and over time. The

Institute of Medicine will be holding a public workshop on essential health
benefits early in 2011 and its report is due at the end of September.
The information you have provided will help inform our ultimate decision about
essential health benefits. However, until I have the results of the Department of
Labor survey and the Institute of Medicine recommendations, I am not in a
position to make determinations about particular benefits.‖

TOPIC: Health Care Reform White Paper
SACHDNC RECOMMENDATION 1: On March 23, 2010, SACHDNC
recommended that the Secretary ―encourage the Centers for Medicare and
Medicaid Services to convene an expert panel to examine coding changes to
streamline the billing process for newborn screening services and to put forth
recommendations that enhance the standardization of health care transactions.‖
SECRETARY’S RESPONSE: On September 23, 2010, the Secretary adopted
SACHDNC‘s recommendation, stating, ―The lack of a uniform system of codes for
billing and payment for newborn screening services results in an administrative
burden on payers, providers, and suppliers. CMS will explore options for using an
existing expert panel or convening a new panel to recommend a more uniform
system of coding and billing of newborn screening services.‖
SACHDNC RECOMMENDATION 2: On March 23, 2010, SACHDNC
recommended that the Secretary ―encourage the Centers for Medicare and
Medicaid Services to develop and pilot a payment method for an integrated system
of care coordination through the medical home framework for children diagnosed
with heritable and congenital disorders as a result of screening.‖
SECRETARY’S RESPONSE: On September 23, 2010, the Secretary adopted
SACHDNC‘s recommendation, stating, ―CMS is convening a new Maternal, Infant,
Child Workgroup this year to provide input into State and Federal efforts to address
clinical, policy, and payment issues related to neonatal care and outcomes
improvement. This recommendation will be forwarded to that workgroup for
consideration. I am also asking the new Center for Medicare and Medicaid
Innovation, which is charged with testing new payment methods and health care
delivery systems for CMS beneficiaries, to consider medical home models for
children with heritable and congenital disorders.‖
SACHDNC RECOMMENDATION 3: On March 23, 2010, SACHDNC
recommended that the Secretary ―encourage the adoption and further definition of

SACHDNC 2011 Report to Congress

the Newborn Screening Use Case within the Department‘s health information
exchange endeavors, specifically encouraging the Centers for Medicare and
Medicaid Services to make use of the Newborn Screening Use Case when defining
―meaningful use‖ of Electronic Health Records and the Office of the National
Coordinator for Health Information Technology to further facilitate the adoption of
the Newborn Screening Use Case.‖
SECRETARY’S RESPONSE: On September 23, 2010, the Secretary adopted
SACHDNC‘s recommendation, stating, ―This recommendation facilitates a
standard approach to newborn screening that would permit the electronic exchange
of newborn information with the goal of improving the coordination of care. I will
direct CMS to address opportunities to adopt and further define the Newborn
Screening Use Case through additional rule making as ONC‘s plans for
implementation of meaningful use of health information technology evolves. I also
will ask CMS to assess opportunities to use information from the Newborn
Screening Use Case in developing the pediatric electronic health record format, as
required under the Children‘s Health Insurance Program Reauthorization Act of
2009.‖
SACHDNC RECOMMENDATION 4: On March 23, 2010, SACHDNC
recommended that the Secretary ―support, as allowable, the closure of gaps in
insurance coverage for medical foods and foods modified to be low in protein, as
recommended by the Committee in April 2009.‖
SECRETARY’S RESPONSE: On September 23, 2010, the Secretary respectfully
rejected the recommendation, stating, ―HHS recognizes that there is a need for policy
to address gaps in coverage for medical foods and foods modified to be low in
protein that are essential treatments for certain heritable disorders identified in
newborn screening but are not typically considered ―medical services.‖ We are
currently reviewing SACHDNC‘s June 14, 20lO letter in which many of these same

43

concerns are raised in the context of enactment of the Affordable Care Act. My
forthcoming response to the June 14 letter will address this issue further. I will also
ask CMS to review State Medicaid programs to determine if there is opportunity to

improve Federal guidance to the states regarding existing coverage for medical foods
and foods modified to be low in protein.‖

TOPIC: Addition of SCID to RUSP
SACHDNC RECOMMENDATION: On February 25, 2010, SACHDNC
recommended ―the addition of SCID to the uniform panel, and related T-cell
lymphocyte deficiencies to the list of secondary targets as a comprehensive
entity, with the understanding that the following activities will also take place in
a timely manner.
The National Institutes of Health shall fund surveillance activities to determine
health outcomes of affected newborns with any T-cell lymphocyte deficiency
receiving treatment as a result of prospective newborn screening.
The Health Resources and Services Administration shall fund the development
of appropriate education and training materials for families and public health
and health care professionals relevant to the screening and treatment of SCID
and related T-cell lymphocyte deficiencies.

The Centers for Disease Control and Prevention shall develop and distribute to
performing laboratories suitable dried blood spot specimens for quality control
and quality assurance purposes.‖
SECRETARY’S RESPONSE: On May 21, 2010, the Secretary responded as
follows: ―The Secretary also adopts the Committee‘s recommendation to adopt
the SACHDNC‘s addition of SCID as a core condition to the Recommended
Uniform Screening Panel, and related T-cell lymphocyte deficiencies to the list
of secondary targets as a comprehensive entity as a national standard and
affirms the SACHDNC‘s updated Recommended Uniform Screening Panel to
screen for 30 core conditions and report 26 secondary conditions.
In addition, I request that the SACHDNC submit a report in May 2011 on the
status of States‘ implementation of this recommendation, including the
surveillance activities to be conducted through the Newborn Screening
Translational Research Network.‖

TOPIC: Adoption of RUSP
SACHDNC RECOMMENDATION: On November 22, 2009, SACHDNC
reaffirmed its recommendation that the Secretary ―facilitate adoption by all state
newborn screening programs of the ACMG recommended uniform screening
panel (now the SACHDNC‘s recommended uniform screening panel) which
will provide the Federal guidance necessary to help states voluntarily bring their
programs into alignment with the most current standards.‖

SECRETARY’S RESPONSE: On May 21, 2010, the Secretary responded as
follows: ―The Secretary adopts SACHDNC‘s recommendations to adopt the
SACHDNC‘s Recommended Uniform Screening Panel (screen for the
identified 29 core conditions; report on the identified 25 secondary conditions)
as a national standard for newborn screening programs and facilitate the
adoption of the SACHDNC‘s Recommended Uniform Screening Panel by all
State newborn screening programs.‖

TOPIC: Krabbe disease
SACHDNC RECOMMENDATION: On September 1, 2009, SACHDNC
SECRETARY’S RESPONSE: On March 21, 2010, the Secretary adopted
recommended ―not adding the condition (Krabbe disease) to the core panel now.‖ SACHDNC‘s recommendation not to add Krabbe disease to the RUSP.

SACHDNC 2011 Report to Congress

44

TOPIC: Improve genomic education of primary care physicians
SACHDNC RECOMMENDATION: On September 1, 2009, SACHDNC
recommended that the Secretary ―develop and fund a ‗Learning Collaborative‘
in genetics and primary care training to support increased genetic literacy
amongst primary care providers.‖

SECRETARY’S RESPONSE: On March 21, 2010, the Secretary adopted
SACHDNC‘s recommendation, stating that HRSA was ―establishing a project
that pairs representatives from primary care practices with genetics and
genomic medical expertise through the formation of a Genetics in Primary Care
Training Institute.‖

TOPIC: Increase public awareness of newborn screening
SACHDNC RECOMMENDATION: On September 1, 2009, SACHDNC
recommended that the Secretary ―provide additional resources to increase
public awareness of the newborn screening system.‖
SECRETARY’S RESPONSE: On March 21, 2010, the Secretary adopted
SACHDNC‘s recommendation, stating, ―The newly funded Clearinghouse for

Newborn Screening Information and Resources will bring needed resources to
newborn screening education by establishing and maintaining a central
clearinghouse of current educational and family support services information,
which will include materials, research, and data on newborn screening.‖

TOPIC: Insurance coverage of medical foods and foods modified to be low protein
SACHDNC RECOMMENDATION: On April 7, 2009, SACHDNC
recommended the following
―(1) Federal legislation be enacted to establish a uniform requirement that
health plans offer coverage of medical foods and foods modified to be low
protein for those conditions recommended by the Committee. Health plans
would include Federal insurance programs coverage plans (Children‘s Health
Insurance Program, Tricare, and Medicaid) and those plans governed by the
Employment Retirement Income Security Act (ERISA) and would not be
subject to state exclusions.
(2) Medicaid‘s enabling legislation (Title XIX of the Social Security Act) be
amended to ensure more uniform coverage by state Medicaid programs of
medical foods and foods modified to be low protein for those conditions
recommended by the Committee. (Medical foods are not mentioned in the
Federal Medicaid statute allowing significant variation across states with
respect to the coverage of medical foods. Amending §1905(a) of the Federal
statute would encourage best practices and ensure greater uniformity.)
(3) The following specific requirements be included in the legislation:

SACHDNC 2011 Report to Congress

(a) Medical foods (as defined by the FDA and for those conditions
recommended by the Committee) delivered either orally or by tube (both are
enteral) and foods modified to be low protein used under the direction of a
physician for the treatment of an inborn error of metabolism should be included
as medical benefits and not restricted to pharmacy benefits.
(b) Pharmacological doses of vitamins and amino acids used specifically for the
treatment of inborn errors of metabolism for those conditions recommended by
the Committee under the direction of a physician will be covered.
(c) A minimum yearly coverage should be set for all health insurance plans,
including those covered by the Children‘s Health Insurance Program,
TRICARE, and Medicaid and those governed under the ERISA. The Secretary
will have authority to set age-specific minimum levels of coverage and
periodically update these levels based on a standard cost of living index.‖
SECRETARY’S RESPONSE: On October 2, 2009, the Secretary responded
as follows: ―I recognize that medical foods and other foods modified to be low
in protein are important treatments for inborn errors of metabolism, and the
Department will be further exploring these proposals. SACHDNC‘s
recommendations to enact legislation are beyond the Department‘s authority.
Therefore, I am neither adopting nor rejecting SACHDNC‘s recommendations.‖

45

TOPIC: Prenatal parental education
SACHDNC RECOMMENDATION: On April 4, 2007, SACHDNC
recommended that the Secretary ―develop and fund a mechanism to study the
distribution of existing newborn screening educational materials and acquisition
of knowledge about newborn screening by expectant parents in the context of
the healthcare provider-patient relationship.‖

SECRETARY’S RESPONSE: On October 21, 2008, the Administrator of
HRSA responded as follows: ―We will ask the newly authorized Secretary‘s
Newborn and Child Screening Interagency Coordinating Committee to assess
the feasibility of and possible approaches to conducting these studies so that we
can develop a cost estimate for conducting the studies if and when funding
becomes available.‖

TOPIC: Adoption of the ACMG recommended uniform screening panel
SACHDNC RECOMMENDATION: On September 9, 2005, SACHDNC
―strongly and unanimously recommends that the Secretary initiate appropriate
action to facilitate adoption of the ACMG recommended screening panel by
every State newborn screening program.‖

SACHDNC 2011 Report to Congress

SECRETARY’S RESPONSE: On October 21, 2008, the Administrator of
HRSA responded as follows: ―Based on the information available now, the
Secretary is considering adopting the conditions recommended in the ACMG
report as a national standard for newborn screening programs. Before making
this determination, the Secretary would like to consider further information
including the findings and recommendations of the President Bush‘s Council on
Bioethics related to ethical issues in the current expansion of newborn
screening. Therefore, the Secretary will defer making a determination pending
further information

46

1

U.S. Department of Health and Human Services, Secretary‘s Advisory Committee on Heritable
Disorders in Newborns and Children. (2006, October). Evidence-based evaluation and decision
process for the Advisory Committee on Heritable Disorders and Genetic Diseases in Newborn
and Children: A workgroup meeting summary. Atlanta, GA: U.S. Department of Health and
Human Services.

2

Green, S., Rinaldo, P., Brower, A., Boyle, C., Dougherty, D., Lloyd-Puryear, M., et al. (2007).
Advancing the recommended panel of conditions for newborn screening. Genetics in Medicine,
9(11), 792–796.

3

Ibid.

4

Perrin, J. M., Knapp, A. A., Browning, M. F., Comeau, A. M., Green, N. S., Lipstein, E. A., et
al. (2010, March). An evidence development process for newborn screening. Genetics in
Medicine, 12(3), 131–134.

5

Calonge, N., Green, N. S., Rinaldo, P., Lloyd-Puryear, M., Dougherty, D., Boyle, C., et al.
(2010, March). Method for evaluating conditions nominated for population-based screening of
newborns and children. Genetics in Medicine, 12(3), 160–161.

6

Calonge et al.

7

Perrin et al.

8

Ibid.

9

Calonge et al.

10

U.S. Department of Health and Human Services, Centers for Disease Control and Prevention,
Office of Workforce and Career Development. (2006). Principles of epidemiology in public
health practice, 3rd ed. Atlanta, GA: U.S. Department of Health and Human Services.

11

Ibid., 3–16.

12

Centers for Disease Control and Prevention. (2008, September 19). Impact of expanded
newborn screening—United States, 2006. MMWR, 57(37), 1012–1015.

13

Centers for Disease Control and Prevention. (2010, May). Early hearing detection and
intervention screening and follow-up survey. Atlanta, GA: Centers for Disease Control and
Prevention.

14

Chan, K., & Puck, J.M. (2005). Development of population-based newborn screening for
severe combined immunodeficiency. Journal of Allergy and Clinical Immunology, 115(2),
391–398.

15

Lipstein, E., Knapp, A. A., & Perrin, J. M. (2009, January, revised April). EVIDENCE
REVIEW: Severe Combined Immunodeficiency (SCID). Atlanta, GA: U.S. Department of
Health and Human Services.

SACHDNC 2011 Report to Congress

47

16

U.S. Department of Health and Human Services, Secretary‘s Advisory Committee on
Heritable Disorders and Genetic Diseases in Newborns and Children, Subcommittee on
Follow-up and Treatment. (2007, April 18). The road map to implement long-term follow-up
and treatment in newborn screening. Bethesda, Maryland: U.S. Department of Health and
Human Services.

17

Kemper, A. R, Boyle, C. A., Aceves, J., Dougherty, D., Figge, J., Fisch, J. L., et al. (2008).
Long-term follow-up after diagnosis resulting from newborn screening: Statement of the U.S.
Secretary of Health and Human Services‘ Advisory Committee on Heritable Disorders and
Genetic Diseases in Newborns and Children. Genetics in Medicine, 10(4), 259–261.

18

Ibid.

19

Hinton, C. F., Feuchtbaum, L., Kus, C. A., Kemper, A. R., Berry, S. A., Levy-Fisch, J., et al.
(Forthcoming). What questions should newborn screening long-term follow-up be able to
answer?: A statement of the United States Secretary for Health and Human Services‘ Advisory
Committee on Heritable Disorders in Newborns and Children.

20

Ibid.

21

Ibid.

22

Howell, R. R. (2009, April 7). Letter to the U.S. Secretary of Health and Human Services.
Retrieved April 19, 2011, from
ftp://ftp.hrsa.gov/mchb/genetics/correspondence/medicalfoodletter7April2009.pdf.

23

U.S. Department of Health and Human Services, Secretary‘s Advisory Committee on
Heritable Disorders in Newborns and Children. (2010, March). White paper: Heritable
disorders, newborn screening, and health care reform. Atlanta, GA: U.S. Department of
Health and Human Services.

24

U.S. Department of Health and Human Services, Office of the National Coordinator for Health
Information Technology. (2008, December 31). Newborn screening AHIC detailed use case.
Retrieved April 19, 2011, from
http://www.hhs.gov/healthit/usecases/documents/NBSDetailedUseCase.pdf.

25

Sebelius, K. (2010, December 14). Letter to Dr. Rodney Howell. Retrieved April 19, 2011,
from
http://www.hrsa.gov/heritabledisorderscommittee/correspondence/121410FINALresponseto61
410lettertoSec.pdf.

26

Howell, R. R. (2007, April 4). Letter to the U.S. Secretary of Health and Human Services.
Retrieved April 19, 2011, from
http://www.hrsa.gov/heritabledisorderscommittee/correspondence/april2007letter.htm.

27

Ibid.

SACHDNC 2011 Report to Congress

48

28

Kemper, A. R., Trotter, T. L., Lloyd-Puryear, M. A., Kyler, P., Feero, W. G., & Howell, R. R.
(2010, February). A blueprint for maternal and child health primary care physician education in
medical genetics and genomic medicine: Recommendations of the United States secretary for
health and human services advisory committee on heritable disorders in newborns and
children. Genetics in Medicine, 12(2), 77–80.

29

Pearson, S. (2008, September 23). NCAA, Rice University sued over football player death.
Bloomberg. Retrieved April 19, 2011, from
http://www.bloomberg.com/apps/news?pid=newsarchive&sid=avs7Z6Wof2D4.

30

U.S. Department of Health and Human Services, Secretary‘s Advisory Committee on
Heritable Disorders in Newborns and Children. (2010). Summary of 21st meeting, May 13–14,
2010, Washington, DC. Retrieved April 19, 2011, from
http://www.hrsa.gov/heritabledisorderscommittee/meetings/2010may/minutesmay2010.pdf.

31

Howell, R. R. (2010, June 14). Letter to the U.S. Secretary of Health and Human Services.
Retrieved April 19, 2011, from
http://www.hrsa.gov/heritabledisorderscommittee/correspondence/sicklecelltraitletter14june20
10.htm.

32

5am Solutions. (2011, March 3). 5am Solutions selected by the American College of Medical
Genetics. Retrieved April 19, 2011, from
http://www.5amsolutions.com/resources/news/2011_03_02.php.

33

National Institutes of Health, National Library of Medicine. Newborn screening coding and
terminology guide. Retrieved April 19, 2011, from
http://newbornscreeningcodes.nlm.nih.gov/nb/sc/constructingNBSHL7messages.

34

Millington, D., Sista, R., Eckhardt, A., Rouse, J., Bali, D., Goldberg, R., et al. (2010, April).
Digital microfluidics: A future technology in the newborn screening laboratory? Seminars in
Perinatology, 34(2), 163–169.

35

Ibid.

36

Ibid.

SACHDNC 2011 Report to Congress

49