In the last several years, the ACD has advocated for GAMT to be added to the RUSP, (Recommended Uniform Screening Panel) which is the U.S. Federal recommendation for Newborn Screening. Currently, GAMT is being screened in Utah and New York. Michigan is in the process of adding the condition. Without being approved by the ACHDNC (Advisory Committee of Heritable Disorders in Newborns and Children) to be on the RUSP, our efforts will continue to be state by state. Our goal is still to have one baby identified during newborn screening, to meet the criteria to be added to the RUSP.
However, there has been one more obstacle placed before us. As of September 30, 2019, the Federal newborn screening programs expired. The House passed the Newborn Screening Saves Lives Reauthorization Act in July 2019, but currently, the bill is held up in the Senate. The bill is held up due to a proposed amendment that would require parents to opt-in to allow their newborn’s unidentified dried blood spot (DBS) to be used for research, which experts feel would break down the entire newborn screening system. Public health laboratories and scientific researchers need DBS to conduct life-saving research to improve the current tests and work to develop new treatments for the thousands of rare diseases still without a cure. Unfortunately, complying with this amendment would place a high burden on hospitals that would likely choose not to participate in the collection of DBS. Studies have demonstrated that 90%-99% of parents would choose to opt-in, but at times only half of the parents would be asked by hospital staff due to the compliance burden. The Senate Bill Provisions include reauthorizing the Health Resources and Services Administration (HRSA) state grants to expand and improve screening programs, provide educational resources to parents and health care providers, and improve follow-up care for infants with a detected condition. It would also reauthorize the ACHDNC, which again, provides the list of conditions to be screened.
This past month, the ACD was represented at Rare Disease Week on Capitol Hill by Celeste Graham and Gina Opperman Nichols. These two, along with 600 patient advocates, were asking their senators to get behind the bill. They specifically met with Senator Burr from North Carolina, and we are hopeful that the Senate will be passing it, sooner than later!
*Since this article has been written, the advisory committee has been approved in March of 2020, however, the reauthorization of the NBS act has yet to be approved.
ACD Director of Advocacy
The ACD is pleased to report tremendous momentum in GAMT newborn screening in 2018. The state of New York began testing for GAMT in October 2018. Almost 250,000 babies are born in New York each year. Michigan approved the addition of GAMT in 2018 and is set to begin testing within the first quarter of 2019. Michigan has 115,000 births each year. Including the state of Utah, which began testing in 2015, there will be over 565,000 babies tested for GAMT annually in the U.S.
A family in the United Kingdom began a petition to request the addition of GAMT to the UK’s newborn screening. Hana Young, midwife, and mother of a child diagnosed with GAMT, was highlighted on the BBC, speaking on the importance of catching this devastating disorder early on in life. Read the article here.
In November of 2018, the Robinson family spoke in front of the Missouri newborn screening committee to recommend the addition of GAMT to their list of screened disorders and highlighted the importance of early detection of the disorder. Members of our SMAB, Dr. Nicola Longo and Dr. Andreas Schulze, also speak on our behalf in the states of New York and Missouri.
The ACD plans to aggressively advocate in many more states in 2019, including Georgia, Missouri, Wisconsin, Ohio, and Minnesota. These are states that do not require GAMT to be approved by the federal government’s advisory committee. They are able to choose the disorders they screen for on a state level.
In order to meet the requirement of having a treatment protocol for the RUSP, ACD is hosting a satellite session at the Society for Inherited Metabolic Disorders (SIMD) Annual Meeting to reach a consensus on treatment recommendations. This session is being held on April 8 in Seattle, WA.
ACHDNC Chairman—Dr. Joseph Bocchini mentioned to ACD Board Members, Kim Tuminello and Heidi Wallis, that there could possibly be alternative ways of proving the reliability of GAMT testing technologies without having to identify an actual newborn through active screenings. The ACD will continue to work on this possibility while also hoping for the best in 2019 in the states of Utah, New York, and Michigan.
ACD Director of Advocacy
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 email@example.com, 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.
ACD Director of Advocacy
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.
ACD Director of Advocacy