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Committee Detail



Committee NameAdvisory Committee on Heritable Disorders in Newborns and ChildrenAgency NameDepartment of Health and Human Services
Fiscal Year2019Committee Number13817
Original Establishment Date10/17/2000Committee StatusChartered
Actual Termination Date Committee URL
New Committee This FYNoPresidential Appointments*No
Terminated This FYNoMax Number of Members*15
Current Charter Date5/7/2015Designated Fed Officer Position Title*Public Health Analyst, Genetic Services, Maternal and Child Health Bureau, Health Resources and Services Administration, 5600 Fishers Ln, Rm. 18A-19, Rockville, MD 20857
Date Of Renewal Charter9/30/2019Designated Federal Officer PrefixDr.
Projected Termination Date Designated Federal Officer First Name*Catharine
Exempt From Renewal*YesDesignated Federal Officer Middle Name
Specific Termination AuthorityDesignated Federal Officer Last Name*Riley
Establishment Authority*Statutory (Congress Created)Designated Federal Officer SuffixPhD, MPH
Specific Establishment Authority*Public Health Service Act (PHS), Title XI Section 1111, 42 U.S.C 300b-10Designated Federal Officer Phone*(301) 443-1291
Effective Date Of Authority*12/18/2014Designated Federal Officer Fax*301-480-1312
Committee Type*ContinuingDesignated Federal Officer Email*
Committee Function*Scientific Technical Program Advisory Board


Agency Recommendation*Continue
Legislation to Terminate RequiredNo
Legislation StatusEnacted
How does cmte accomplish its purpose?*The Advisory Committee provides advice and recommendations concerning the grants and projects authorized under the Heritable Disorders Program and technical information to develop policies and priorities for this program that will enhance the ability of the State and local health agencies to provide for newborn and child screening, counseling and health care services for newborns and children having or at risk for heritable disorders. Specifically, the Committee has provided advise to the Secretary regarding the most appropriate timelines of universal newborn screening that each newborn screening program should work towards to ensure that infants are not missed. The Committee based their advise on data and information collected by the Committee through stakeholder interviews and data collection.
How is membership balanced?*The Committee structure shall not exceed 15 members, including the Chair and the ex-officio members. The total membership of the Committee shall be an odd number. The Secretary or his designee shall appoint as ex-officio members to the Committee, the Administrator of Health Resources and Services Administration; the Directors of the Centers for Disease Control and Prevention, the National Institutes of Health, and the Agency for Healthcare Research and Quality; or their designees; and representatives of such Federal agencies as the Secretary determines are necessary for the Committee to effectively carry out its functions. Other members and the Chair shall be selected by the Secretary or his designee from medical, technical, public health or scientific professionals with special expertise in the field of heritable disorders or in providing screening, counseling, testing or specialty services for newborns and children at risk for heritable disorders and from members of the public having special expertise about or concern with heritable disorders. To the extent practicable, Committee members should represent minority, gender and geographical diversity of newborns served by the State newborn screening programs.The Department will give close attention to equitable geographical distribution and to minority and female distribution so long as the effectiveness of the Committee is not impaired.
How frequent & relevant are cmte mtgs?*There are 4 meetings a year and each meeting is relevant to newborn and child screening for genetic conditions. The Committee met four times in FY2018.
Why advice can't be obtained elsewhere?*The Committee makes recommendations to the Secretary on grants and projects to help states and local public health agencies improve screening, counseling and health care services to newborns and children who have or are at risk for heritable disorders. Committee members will also advise the Secretary on policies and priorities to help agencies provide these services. Of importance, the Committee provides recommendations to the Secretary regarding which conditions should be on the Recommended Uniform Screening Panel (RUSP). The RUSP is a list of disorders that are screened at birth and recommended by the Secretary of the Department of Health and Human Services (HHS) for states to screen as part of their state universal newborn screening (NBS) programs. Disorders on the RUSP are chosen based on evidence that supports the potential net benefit of screening, the ability of states to screen for the disorder, and the availability of effective treatments. It is recommended that every newborn be screened for all disorders on the RUSP. Most states screen for the majority of disorders on the RUSP; newer conditions are still in process of adoption. Some states also screen for additional disorders. Although states ultimately determine what disorders their NBS program will screen for, the RUSP establishes a standardized list of disorders that have been supported by the Committee and the Secretary of HHS.
Why close or partially close meetings?To date, all Committee meetings are public.
Recommendation RemarksThe Advisory Committee on Heritable Disorders in Newborns and Children (Committee) legislative authority is the Public Health Service Act (PHS), Title XI, § 1111 (42 U.S.C. 300b-10). The Committee also is governed by the provisions of the Federal Advisory Committee Act (FACA), as amended (5 U.S.C. App.), which sets forth standards for the formation and use of advisory committees.

Objective and Scope of Activities: The Committee provides advice, recommendations, and technical information about aspects of heritable disorders and newborn and childhood screening to the Secretary of Health and Human Services (HHS) for the development of policies and priorities that will enhance the ability of the State and local health agencies to provide for such screening, counseling and health care services for newborns and children having, or at risk for, heritable disorders.

The Committee met four times in FY2018. The Committee posted an evidence review report for spinal muscular atrophy (SMA) in February 2018, a Report to Congress in May 2018, and a report on "The Role of Quality Measures to Promote Long-Term Follow-up of Children Identified by Newborn Screening Programs" in September 2018.


Outcome Improvement To Health Or Safety*YesAction Reorganize Priorities*No
Outcome Trust In GovernmentYesAction Reallocate ResourcesNo
Outcome Major Policy ChangesYesAction Issued New RegulationsNo
Outcome Advance In Scientific ResearchYesAction Proposed LegislationNo
Outcome Effective Grant MakingYesAction Approved Grants Or Other PaymentsNo
Outcome Improved Service DeliveryYesAction OtherNo
Outcome Increased Customer SatisfactionYesAction Comment
Outcome Implement Laws/Reg RequirementsYesGrants Review*No
Outcome OtherYesNumber Of Grants Reviewed0
Outcome CommentThe Advisory Committee shall review and report regularly on newborn and childhood screening practices, recommend improvements in the national newborn and childhood screening programs, and shall engage in the following activities:1) Provide advice and recommendations to the Secretary concerning grants and projects awarded or funded under Section 1109 of the PHS Act; 2) Provide technical information to the Secretary for the development of policies and priorities for the administration of grants under Section 1109 of the PHS Act; 3) Provide recommendations, advice, or information on certain diagnostic and screening activities; 4) Provide such recommendations, advice or information as may be necessary to enhance, expand or improve the ability of the Secretary to reduce the mortality or morbidity in newborns and children from heritable disorders.5) Make systematic evidence-based and peer-reviewed recommendations that include the heritable disorders that have the potential to significantly impact public health for which all newborns should be screened, including secondary conditions that may be identified as a result of the laboratory methods used for screening;6) Develop a model decision-matrix for newborn screening expansion, including an evaluation of the potential public health impact of such expansion and periodically update the recommended uniform screening panel, as appropriate, based on such decision-matrix;7) Consider ways to ensure that all States attain the capacity to screen for the conditions designated in the uniform screening panel and include in such consideration the results of grant funding under section 1109. To address this task, the Committee may make recommendations, advice, or information dealing with:• follow-up activities, including those necessary to achieve rapid diagnosis in the short-term, and those that ascertain long-term case management outcomes and appropriate access to related services;• implementation, monitoring, and evaluation of newborn screening activities, including diagnosis, screening, follow-up, and treatment activities; • diagnostic and other technology used in screening; • the availability and reporting of testing for conditions for which there is no existing treatment; • conditions not included in the recommended uniform screening panel that are treatable with Food and Drug Administration-approved products or other safe and effective treatments, as determined by scientific evidence and peer review; • minimum standards and related policies and procedures used by State newborn screening programs, such as language and terminology used by State newborn screening programs to include standardization of case definitions and names of disorders for which newborn screening tests are performed; • quality assurance, oversight, and evaluation of State newborn screening programs, including ensuring that tests and technologies used by each State meet established standards for detecting and reporting positive screening results; • public and provider awareness and education;• the cost and effectiveness of newborn screening and medical evaluation systems and intervention programs conducted by State-based programs;• identification of the causes of, public health impacts of, and risk factors for heritable disorders; and• coordination of surveillance activities, including standardized data collection and reporting, harmonization of laboratory definitions for heritable disorders and testing results, and confirmatory testing and verification of positive results, in order to assess and enhance monitoring of newborn diseasesIn addition, the Committee will provide consultation to the Secretary, acting through the Director of the Centers for Disease Control and Prevention on laboratory quality to provide for: 1) quality assurance for laboratories involved in screening newborns and children for heritable disorders, including quality assurance for newborn-screening tests, performance evaluation services, and technical assistance and technology transfer to newborn screening laboratories to ensure analytic validity and utility of screening tests; and 2) appropriate quality control and other performance test materials to evaluate the performance of new screening tools. The Advisory Committee will support the purpose and activities of the Interagency Coordinating Committee; 1) to assess existing activities and infrastructure, including activities on birth defects and developmental disabilities authorized under Section 317C, in order to make recommendations to programs to collect, analyze, and make available data on the heritable disorders recommended by the Advisory Committee under Section 1111, including data on the incidence and prevalence of, as well as poor health outcomes resulting from, such disorders; and 2) 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.Number Of Grants Recommended0
Cost Savings*Unable to DetermineDollar Value Of Grants Recommended$0.00
Cost Savings CommentCommittee's cost savings have not been determinedGrants Review CommentThe committee does not review applications for grants.
Number Of Recommendations*11Access Contact Designated Fed. Officer*Yes
Number Of Recommendations CommentIn FY18 there was one recommendation sent to the Secretary for approval. The total number of recommendations to date increased by one since FY17.Access Agency WebsiteYes
% of Recs Fully Implemented*80.00%Access Committee WebsiteYes
% of Recs Fully Implemented CommentIn November 2015, the Secretary of Health and Human Services adopted the Committee's recommendations and added Mucopolysaccharidosis 1 (MPS 1) and X-Linked Adrenoleukodystrophy (ALD) to the Recommended Uniform Screening Panel (RUSP). The Secretary also stated in her response letter that she asked federal agencies to consider ways within their existing resources to support state programs as they begin to implement population-based screening for MPS 1 and X-ALD. As a result, in FY16 HRSA issued a $2 million funding opportunity announcement with the purpose being to implement new conditions added to the RUSP including. In FY17 the Newborn Screening Implementation Program Regarding Conditions Added to the Recommended Uniform Screening Panel (RUSP), awarded to the Association of Public Health Laboratories, worked to increase the number of newborns with Pompe disease, Mucopolysaccharidosis I (MPS I), and X-linked Adrenoleukodystrophy (X-ALD) identified through newborn screening that receive early treatment. States continue to work on adding conditions recently added to the RUSP. In FY18 the Committee provided the following recommendation to the Secretary: Expand the Recommended Uniform Screening Panel (RUSP) to include the addition of spinal muscular atrophy (SMA) due to homozygous deletion of exon 7 in SMN1. In July 2018 the Secretary accepted the recommendation and SMA due to homozygous deletion of exon 7 in SMN1 was added to the RUSP.Access GSA FACA WebsiteYes
% of Recs Partially Implemented*20.00%Access PublicationsYes
% of Recs Partially Implemented CommentNot ApplicableAccess OtherNo
Agency Feedback*YesAccess Comment
Agency Feedback CommentThrough correspondence from the Secretary.Narrative Description*Purpose of the Committee: To provide the Secretary advice and recommendations that will enhance the ability of the State and local health agencies to provide for screening, counseling and health care services for newborns and children having or at risk for heritable disorders, and to advise and guide the Secretary regarding the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and programs. The Committee supports HRSA's mission and strategic plan by the following: Goal III: Build healthy communities Sub-goal a – Lead and collaborate with others to help communities strengthen resources that improve health for the population.HRSA’s Principle - Partner with stakeholders at all levels- from individuals, families and communities to organizations, States and tribal organizations. The Advisory Committee members represent consumers, families, grassroots organizations, advocacy organizations, medical providers, researchers and state public health entities and provides opportunities for the various stakeholders to work together on policies that can reduce mortality/morbidity of genetic disorders. Goal IV: Improve health equity Sub-goal b - Monitor, identify and advance evidence-based and promising practices to achieve health equity. HRSA’s Principle - Focus on results across the population, by using the best available evidence, monitoring impact and adapting programs to improve outcomes. One of the charges for the Advisory Committee is to make systematic evidence-based recommendations that have the potential to significantly impact public health as well as health outcomes for all newborns and children screened in the United States.
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     Committee Level Reports               


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ActionCommittee System IDSubcommittee NameFiscal Year
 COM-032401Education and Training2019
 COM-032029Follow-up and Treatment2019
 COM-031384Lab Standards and Procedures2019


No Documents Found



Data from Previous Years

ActionCommittee System IDCommittee NameFiscal Year
 COM-034736Advisory Committee on Heritable Disorders in Newborns and Children2018
 COM-001981Advisory Committee on Heritable Disorders in Newborns and Children2017
 COM-002214Advisory Committee on Heritable Disorders in Newborns and Children2016
 COM-004064Advisory Committee on Heritable Disorders in Newborns and Children2015
 COM-004774Discretionary Advisory Committee on Heritable Disorders in Newborns and Children2014
 COM-005899Discretionary Advisory Committee on Heritable Disorders in Newborns and Children2013
 COM-006684Advisory Committee on Heritable Disorders in Newborns and Children2012
 COM-007997Advisory Committee on Heritable Disorders in Newborns and Children2011
 COM-008813Advisory Committee on Heritable Disorders in Newborns and Children2010
 COM-010346Advisory Committee on Heritable Disorders in Newborns and Children2009
 COM-010661Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children2008
 COM-011901Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children2007
 COM-012545Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children2006
 COM-014112Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children2005
 COM-014499Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children2004
 COM-015699Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children2003