Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC)


On Monday and Tuesday, May 9-10, 2016, the Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) 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.