In May, the ACD met with the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC). GAMT was nominated for inclusion on the federal government’s Recommended Uniform Screening Panel (RUSP) by Dr. Nicola Longo, Chief Division of Medical Genetics, University of Utah. The role of the ACHDNC is to determine if a nominated disorder meets their requirements for inclusion on RUSP before the disorder is moved forward for a scientific evidence review. The Evidence Review Board has no more than six months to approve or reject a nominated disorder. If approved by the Evidence Review Board, the disorder moves forward to the Secretary of Health and Human Services for final approval and recommendation to all states.
RUSP currently consists of 34 primary disorders that the federal government recommends all newborns be screened for. Each state ultimately decides whether to adopt these recommendations for their individual screening panels. Nearly all states cover the full panel of recommended primary conditions.
The ACD presented signed petitions to include GAMT on RUSP from over 1,000 people, along with a cost analysis detailing the cost of treatment for a newborn diagnosed with GAMT versus the cost of care if there is a late diagnosis. There were four board members from ACD in attendance that are also GAMT parents. They spoke about the impact GAMT has had in their families, as well as the successful outcome of treatment from birth, to highlight the life changing value of GAMT newborn screening.
The topic was extensively debated amongst the ACHDNC Committee, but the ultimate vote was 7 to 6 to not move GAMT forward at this time. The ACHDNC is requiring at least one GAMT case to be identified prospectively by a pilot newborn screening program. At this time, Utah is the only state currently screening for GAMT. The ACD is closely following the progress of the pilot study in Utah, as well as international screening results, and is urging other states to adopt GAMT onto their newborn screening panels in the hopes of finding a positive result as soon as possible. The ACHDNC meets quarterly and the ACD will be presenting again as soon as the evidence suggests we will meet all of the requirements.