Newborn Screening Program

Fall 2017 Update

There are so many wonderful things happening in the world of newborn screening. Not only is GAMT being recognized as a viable newborn screening addition in several states in the U.S. and locations abroad, but newborn screening technology advancements are being made to detect more and more disorders, and to do so quickly! The idea of every family having the information at birth, of their child’s disease, as opposed to the average 7-year odyssey that most families currently endure, is a concept that is not that far off in the future, but of course, legislation and costs are also a part of the equation. There are those in the world that might argue that they are not interested in knowing, however, I would bet that if they could know upfront why their child would struggle to gain weight, miss milestones, or develop epilepsy, they would opt in for the information.

Currently, ACD is advocating in many states for GAMT to be added to the state’s newborn screening program. In just this past month, members of the ACD have attended newborn screening meetings in Georgia, Utah, and Michigan (with a final vote in Michigan to be held on November 13th), and have sent consents to the state of New York to obtain their child’s blood spots to support New York’s research into screening. These spots will help prove that newborn blood spots show the elevated Guanidinoacetate (GAA) that is required for GAMT to be added to the Newborn Screening panel. Each state has its own process to prepare their lab for GAMT testing. They must also have the personnel to conduct the testing and a plan in place for the follow-up with families when an elevated GAA is detected. And of course, they need to understand the costs of adding this to their current newborn screening.

If you are interested in seeing how long your state typically holds blood spots, to know if your child’s might be available to help with future states needing to validate their testing (including New York which is still in need of more samples), visit NewSteps and click on your state, then “Policies”, then “Dried Blood Spot Retention Time”. If your state still has your child’s spot, and you are interested in helping the state of New York, or others, please email, and you will be given further information. Many states are trying to ramp up their retention times, so if you are borderline, even within a year or two, please check with your state to confirm.

The U.S. Advisory Committee on Heritable Disorders in Newborns and Children has indicated that as soon as ONE BABY with GAMT is identified through newborn screening, they will recommend all states begin screening for GAMT. This will change the future for all Creatine Deficiencies in awareness, research, and hopefully one day for a treatment or a cure! The sooner, the better.

Kim Tuminello
ACD Director of Advocacy

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

CCDS Newborn Screening News Archive:

GAMT Newborn Screening In Utah

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