||ACHDNC provides expert advice and recommendations to the Secretary about the development of 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. In addition, the Committee’s recommendations regarding additional conditions/heritable disorders for screening that have been adopted by the Secretary are included in the Recommended Uniform Screening Panel (RUSP) and constitute part of the comprehensive guidelines supported by the Health Resources and Services Administration. The committee is composed of 15 voting members.
The Committee will hear presentations and discussions on topics including an introduction on sequencing and potential impact on newborn screening and public health, screening for Lysosomal Storage Disorders, newborn screening timeliness, pilot studies for future nominated conditions, and the National Contingency Plan for Newborn Screening. The Committee will hear updates from the Laboratory Standards and Procedures workgroup, Follow-up and Treatment workgroup, and Education and Training workgroup, Timeliness Workgroup, and the Cost Analysis Workgroup. Tentatively, the Committee is expected to review and/or vote on the recommendations regarding the information needed from pilot studies for future nominated conditions. This vote does not involve a proposed addition of a condition to the Recommended Uniform Screening Panel.