Discretionary Advisory Committee on Heritable Disorders in Newborns and Children
held their second meeting of the year to discuss information obtained from the advisory committee and workgroups, update on RUSP conditions, and topics of interest. Beth Tarini, MD, MS, FAAP and Shelby Lemke, BA presented Assessing Impact of Committee’s Recommendations on Long-term Follow-up on State NBS Programs
, which examined long term follow up collection method, what barriers NBS mangers faced, and the general attitudes towards date collection. Alexis Thompson, MD, MPH and Anne Azrak, BA presented Assessing the Impact of NCAA Sickle Cell Trait Screening on State Newborn Screening Programs,
which investigated the impact of the NCAA mandate to have all players tested for sickle cell on the newborn screening program. Amy Brower, PhD from NCC
presented Exome and Genome Sequencing and NBS.
This presentation looked at the effect genome and exome sequencing could have on newborn screening programs. DACHDNC also provided information about subcommittee findings and laboratory standards and guidelines.