Spinal muscular atrophy (SMA) is a step closer to being on a list of diseases that the U.S. government recommends newborns be screened for.
Although making the Recommended Uniform Screening Panel list will constitute a powerful statement of support for SMA screening, decisions about what diseases newborns are checked for are made at the state level. Some of the 50 states could adopt the SMA screening recommendation fairly quickly, while others could lag — or even reject the idea.
Cure SMA’s newborn-screening working group put together the submission in conjunction with a panel of SMA researchers and clinical experts and representatives of the Muscular Dystrophy Association (MDA).
Federal government approval of the submission would send a strong message to the states about the importance of screening newborns for SMA.
Advocacy at the state level would be crucial, however, because most states have their own process for evaluating which diseases should be added to their screening lists.
Before SMA can make the federal list, the submission must be reviewed by the Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC), which is part of the Department of Health and Human Services.
The review committee will look at how SMA has developed in the United States, approved treatments for the disease, evidence that pre-symptom treatments for SMA are effective, whether pilot screening data is available from at least one state lab, and whether there is a reliable diagnostic test for SMA that could be given to a significant population of babies.
Committee members will make their first comments at their next meeting in May. They will also establish a timeline for completing the review, which generally takes at least a year.
In addition to supporting the submission, the SMA screening coalition will continue to do other advocacy work. One focus will be lobbying Congress to secure appropriate funding for newborn screening. Another will be organizing federal- and state-level grassroots advocacy efforts to ensure screening is implemented.