Advisory Committees - Other US Advisory Committees - Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)
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Past Meetings
The committee heard from experts in the field and discuss issues related to newborn screening information, education, training activities, and training resources. The committee also heard presentations on the use of genomic sequencing in newborn screening as well as the clinical setting for both well and sick infants. In addition, the committee discussed the nomination of cerebrotendinous xanthomatosis (CTX) to the RUSP.
The meeting addressed address several topics related to heritable disorders and newborn screening, as follows:
- Review and vote on whether to recommend adding spinal muscular atrophy (SMA) to the Recommended Uniform Screening Panel (RUSP)
- States’ activities to achieve newborn screening (NBS) timeliness goals
- Cutoff determinations and risk assessment methods for dried bloodspot newborn screening
- Working group updates
- Working group updates.
On Wednesday to Thursday, November 8-9, 2017, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) met to discuss issues related to newborn screening (NBS) and the diagnosis and treatment of individuals with heritable disorders.
The Committee met to hear presentations and conduct discussions on topics related to newborn screening activities, technologies, policies, guidelines, and programs for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders.
The Committee met to consider Spinal Muscular Atrophy (SMA) deficiency for a full evidence review for addition to the Recommended Uniform Screening Panel (RUSP). In addition, the Committee heard updates on topics related to newborn screening (NBS) and medical foods.
The ACHDNC heard presentations and held discussions on topics related to newborn screening (NBS) activities, technologies, policies, guidelines, and programs for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders.
The Committee also heard updates from the following workgroups:
· Education and Training Workgroup;
· Laboratory Standards and Procedures Workgroup; and
· Follow-up and Treatment Workgroup.
The ACHDNC did not vote on a proposed addition of a condition to the Recommended Uniform Screening Panel (RUSP)
The Committee met to consider Guanidinoacetate Methyltransferase (GAMT) deficiency for a full evidence review for addition to the Recommended Uniform Screening Panel (RUSP). In addition, the Committee heard updates on topics related to newborn screening and medical foods.
The Committee discussed topics about tests for newborns, heard updates of its Workgroups and voted on a recommendation of its Pilot Study Workgroup.
The Committee voted, by a vote of 7-Yes to 6-No, to delay for a short time the referral of the nominated condition Guanidinoacetate Methyltransferase Deficiency (GAMT) for a full evidence-based review, until treatment guidelines are finalized and at least one positive case is found by prospective newborn screening (NBS). The Committee encouraged the nominators to reapply as soon as these final two conditions are met. The vote is a preliminary step toward a proposed addition of the condition to the Recommended Uniform Screening Panel (RUSP). In addition, the Committee heard presentations and discussions on topics including prenatal education regarding NBS bloodspots and the use of medical foods. The Committee also reviewed draft reports and heard updates from the Committee’s subcommittees and workgroups.
Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC)
ACHDNC advises the Secretary, U.S. Department of Health and Human Services on the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards. Specifically, the committee provides to the Secretary, the following:
- Advice and recommendations concerning grants and projects authorized awarded or funded related to screening heritable disorders in newborns and children;
- Technical information to develop Heritable Disorders Program policies and priorities will enhance the ability of the state and local health agencies to provide screening, counseling and health care services for newborns and children who have or are at risk for heritable disorders; and
- Recommendations, advice and information to enhance, expand or improve the ability of the Secretary to reduce mortality and morbidity from heritable disorders in newborns and children.
The ACHDNC will hear dfrom experts in the fields of public health, medicine, heritable disorders, rare disorders, and newborn screening. Agenda topics included: 1) the condition nomination and evidence review process, 2) rare disease registries, and 3) implementation of conditions on the RUSP.