Newborn Screening Program

Summer 2017 Update

The ACD is continuing to work towards all babies one day being screened for Creatine Deficiencies, not only in the United States, but around the world. Currently, GAMT is under serious consideration in many places amongst physicians and researchers since it has a safe and affordable treatment. As many of you know, GAMT has come very close to being recommended to the U.S. national newborn screening program of RUSP (Recommended Uniform Screening Panel) and will be added once one baby is identified on a newborn screen either by an individual state, a pilot program of a state, or by another country.

Currently, there are only a few locations that are screening for GAMT including some provinces in Canada, Australia, and in the United States, Utah is the only state. However, Michigan’s Newborn Screening Metabolic Quality Improvement Committee (MetQIC) used their newly developed condition readiness tool in June to assess the state’s readiness to begin screening for GAMT deficiency. The MetQIC classified GAMT deficiency as “developmental”, and conditions that fall into this category can begin Michigan’s approval process. The MetQIC voted unanimously to forward GAMT deficiency to the Technical Advisory Committee (TAC) for review. When the TAC meets at the end of September, they will review the materials from the MetQIC and vote on whether GAMT deficiency should be forwarded to the Quality Assurance Advisory Committee (QAAC). The QAAC meets in November and will formally vote on whether GAMT deficiency should be added to Michigan’s panel!

The ACD is also currently working on submitting an application for the state of Georgia, and anticipates the first meeting to discuss this application to be held in September. We are also pursuing the states of Connecticut, Missouri, Colorado, and a pilot program in New York. These states are on this list due to reasons such as legislative ability to add GAMT, the level of interest, and the number of annual births.

Kim Tuminello
ACD Director of Advocacy

Proper diagnosis and early intervention are critical to improve life quality and longevity of CCDS patients. The ACD is passionate about seeing CCDS on newborn blood screens. We are actively pursuing this initiative.

Newborn Assessment

CCDS Newborn Screening News Archive:

GAMT Newborn Screening In Utah