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Committee Detail

Note: An Annual Comprehensive Review, as required by §7 of the Federal Advisory Committee Act, is conducted each year on committee data entered for the previous fiscal year (referred to as the reporting year). The data for the reporting year is not considered verified until this review is complete and the data is moved to history for an agency/department. See the Data From Previous Years section at the bottom of this page for the committee’s historical, verified data.

Details on agency responses to committee recommendations can be found under the Performance Measures section for each committee in the fields “Agency Feedback” and “Agency Feedback Comment.”


HHS - 13817 - Advisory Committee on Heritable Disorders in Newborns and Children - Authorized by Law
Hide Section - GENERAL INFORMATION

GENERAL INFORMATION

Committee NameAdvisory Committee on Heritable Disorders in Newborns and ChildrenAgency NameDepartment of Health and Human Services
Fiscal Year2022Committee Number13817
Original Establishment Date10/17/2000Committee StatusChartered
Actual Termination Date Committee URLhttps://www.hrsa.gov/advisory-committees/herita...
New Committee This FYNoPresidential Appointments*No
Terminated This FYNoMax Number of Members*15
Current Charter Date11/10/2022Designated 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 Charter11/10/2024Designated Federal Officer Prefix
Projected Termination Date Designated Federal Officer First Name*Soohyun
Exempt From Renewal*NoDesignated Federal Officer Middle Name
Specific Termination AuthorityPublic Health Service Act (PHS), Title XI Section 1111, 42 U.S.C 300b-10Designated Federal Officer Last Name*Kim
Establishment Authority*Authorized by LawDesignated Federal Officer Suffix
Specific Establishment Authority*Public Health Service Act (PHS), Title XI Section 1111, 42 U.S.C 300b-10Designated Federal Officer Phone*(240) 704-0625
Effective Date Of Authority*12/18/2014Designated Federal Officer Fax*301-480-1312
Exempt From EO 13875 Discretionary CmteNot ApplicableDesignated Federal Officer Email*skim@hrsa.gov
Committee Type*Continuing
Presidential*No
Committee Function*Scientific Technical Program Advisory Board
Hide Section - RECOMMENDATION/JUSTIFICATIONS

RECOMMENDATION/JUSTIFICATIONS

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 provides advice to the Secretary of HHS regarding the most appropriate timelines of universal newborn screening that each newborn screening program should work towards to ensure that infants are not missed and which conditions should be on the Recommended Uniform Screening Panel. The Committee bases their advice on data and information collected by the Committee through stakeholder interviews, data collection, and evidence reviews.
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 the 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 their 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 approximately four meetings in a calendar year and each meeting is relevant to newborn and child screening for genetic conditions. The Committee met four times in FY 2022.
Why advice can't be obtained elsewhere?*The Committee makes recommendations to the Secretary of HHS 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 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 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?N/A. To date, all Committee meetings are public.
Recommendation RemarksACHDNC was originally established by Congress in 2008 under the Public Health Service (PHS) Act, Title XI, § 1111 (42 U.S.C. § 300b-10). The authorizing statute, as amended, requires that the Committee operate through September 30, 2019. It also states that, should the ACHDNC’s operation not be extended by the end of fiscal year 2019, the Committee “may be deemed” as a discretionary committee for purposes of the Federal Advisory Committee Act. On November 10, 2020, the Secretary of Health and Human Services (HHS) re-established the Committee as a discretionary committee pursuant to this provision and section 222 of the PHS Act (42 U.S.C. § 217a).

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 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 sent two recommendations to the Secretary in FY 2022, to add Mucopolysaccharidosis Type II (MPS II) and Guanidinoacetate Methyltransferase (GAMT) Deficiency to the RUSP. In FY 2022, the Committee voted to send Krabbe disease to evidence-based review and is scheduled to vote on the evidence presented on the condition in the future. The Committee also received two RUSP condition nominations: congenital cytomegalovirus (cCMV) and Duchene muscular dystrophy (DMD). The Committee reviewed the nomination package for cCMV but it did not move forward for a vote for evidence-based review as it need not meet the requirements. The nomination package for DMD was under review in FY 2022 and the Committee will continue to examine the information presented in the nomination package in the future.
Hide Section - PERFORMANCE MEASURES

PERFORMANCE MEASURES

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 of HHS 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; and 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 diseases. In addition, the Committee provides consultation to the Secretary of HHS, 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 to 1) 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 determined.Grants Review CommentThe committee does not review applications for grants.
Number Of Recommendations*13Access Contact Designated Fed. Officer*Yes
Number Of Recommendations CommentIn FY 2022 the Committee submitted two recommendations to the Secretary for approval: Expand the Recommended Uniform Screening Panel (RUSP) to include the addition of Mucopolysaccharidosis Type II (MPS II) and Guanidinoacetate Methyltransferase (GAMT) Deficiency.Access Agency WebsiteYes
% of Recs Fully Implemented*80.00%Access Committee WebsiteYes
% of Recs Fully Implemented CommentIn November 2015, the Secretary of HHS 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 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 Adrenoleukodystrophy (X-ALD) . As a result, in FY 2016 HRSA issued a $2 million funding opportunity announcement with the purpose being to implement new conditions added to the RUSP including MPS I and X-ALD. In FY 2017 the Newborn Screening Implementation Program Regarding Conditions Added to the RUSP was awarded to the Association of Public Health Laboratories (APHL), worked to increase the number of newborns with Pompe disease, MPS I, and X-ALD identified through newborn screening that receive early treatment. States continue to work on adding conditions recently added to the RUSP. In FY 2018 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. In addition, the Secretary requested a report, "…describing the status of implementing newborn screening for SMA and clinical outcomes of early treatment, including any potential harms, for infants diagnosed with SMA." In December 2020, the Committee submitted the requested report, titled "Review of Newborn Screening Implementation for Spinal Muscular Atrophy" to the Secretary. The report noted that there has been relatively quick adoption of newborn screening for SMA by states and that the current available evidence supports the benefit of early detection. From FY 2018-2021 HRSA investments such as the Quality Improvement in Newborn Screening program continued to support state-level implementation of newly added RUSP conditions and 37 states are now screening for SMA. In March 2022, the Committee provided the following recommendation to the Secretary: Expand the RUSP to include the addition of Mucopolysaccharidosis Type II (MPS II). In August 2022, the Secretary accepted the recommendation to add MPS II to the RUSP and the condition has been added. In addition, the Secretary requested a report, "...describing the status of state implementation of MPS II screening, access, and cost of treatment for infants diagnosed with MPS II and the impact on families due to the treatment periodicity." In June 2022, the Committee provided the following recommendation to the Secretary: Expand the RUSP to include the addition of Guanidinoacetate Methyltransferase (GAMT) Deficiency. In FY 2022, this recommendation was submitted to the Secretary for review.Access GSA FACA WebsiteYes
% of Recs Partially Implemented*20.00%Access PublicationsYes
% of Recs Partially Implemented CommentNot ApplicableAccess OtherNo
Agency Feedback*YesAccess Commenthttps://www.hrsa.gov/advisory-committees/heritable-disorders/index.html
Agency Feedback Comment*Through correspondence from the Secretary.Narrative Description*Purpose of the Committee: To provide the Secretary with 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.
Hide Section - COSTS

COSTS

Payments to Non-Federal Members*$15,000.00Est Payments to Non-Fed Members Next FY*$20,000.00
Payments to Federal Members*$27,652.00Est. Payments to Fed Members Next FY*$29,035.00
Payments to Federal Staff*$276,861.00Estimated Payments to Federal Staff*$357,699.00
Payments to Consultants*$0.00Est. Payments to Consultants Next FY*$0.00
Travel Reimb. For Non-Federal Members*$0.00Est Travel Reimb Non-Fed Members nextFY*$60,902.00
Travel Reimb. For Federal Members*$0.00Est Travel Reimb For Fed Members*$2,677.00
Travel Reimb. For Federal Staff*$0.00Est. Travel Reimb to Fed Staff Next FY*$0.00
Travel Reimb. For Consultants*$0.00Est Travel Reimb to Consultants Next FY*$0.00
Other Costs$1,158,376.00Est. Other Costs Next FY*$1,579,405.00
Total Costs$1,477,889.00Est. Total Next FY*$2,049,718.00
Date Cost Last Modified11/22/2022 9:38 AMEst. Fed Staff Support Next FY*2.60
Federal Staff Support (FTE)*1.80Est Cost RemarksOther costs are estimated to be significantly higher to account for the meeting logistics contract and contracts for two external evidence-based reviews of nominated conditions as the reviews support the operations of the Committee in making their recommendations.
Cost RemarksAll meetings were virtual in FY 2022 so no travel costs were incurred. In FY 2022, there was an evidence review of a nominated condition which cost $704,000; a state capacity report which cost $319,276; $85,100 for meeting logistics; and $50,000 for report to Congress.  
Hide Section - Interest Areas

Interest Areas

Category
Area
Food and Drugs
Food and Drugs
Medical Devices
Health
Public Health
Medicine
Diseases
Health and Health Research
Illnesses
Hide Section - MEMBERS,MEETINGS AND ADVISORY REPORTS

MEMBERS,MEETINGS AND ADVISORY REPORTS

To View all the members, meetings and advisory reports for this committee please click here
Hide Section - SUBCOMMITTEES

SUBCOMMITTEES

Committee

Subcommittees

ActionCommittee System IDSubcommittee NameFiscal Year
 COM-032401Education and Training2020
 COM-032029Follow-up and Treatment2020
 COM-031384Lab Standards and Procedures2020
Hide Section - CHARTERS AND RELATED DOCS

CHARTERS AND RELATED DOCS

No Documents Found
Hide Section - DATA FROM PREVIOUS YEARS

DATA FROM PREVIOUS YEARS

Committee

Data from Previous Years

 
ActionCommittee System IDCommittee NameFiscal Year
 COM-040379Advisory Committee on Heritable Disorders in Newborns and Children2021
 COM-036827Advisory Committee on Heritable Disorders in Newborns and Children2019
 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