On Thursday, February 8, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC), a federal committee that oversees newborn screening, will vote on whether to recommend newborn screening for spinal muscular atrophy. This decision is an important step toward our goal of having every baby born in the United States screened for SMA.
On average in the US, one baby is born with SMA each day. Each day, we have the opportunity to save a life through screening and early treatment.
What is Newborn Screening
All babies born in the US are screened at birth for a panel of diseases. This allows conditions to be identified early so that treatment can begin quickly.
Newborn screening is regulated at both the federal and state level. The federal component is called the Recommended Uniform Screening Panel (RUSP), a panel of diseases that are recommended to be screened for in every newborn. Ultimately, however, the decision on whether to implement newborn screening for a specific condition is up to each state. This is why the exact panel of diseases varies by state.
What Has Led Up to This Decision
The federal process for newborn screening has four steps.
First, a nomination is submitted to the ACHDNC. The nomination must show that the disease’s natural history is well understood, that there is an approved treatment, that there is evidence that earlier treatment is most effective, and that there is a reliable test for the disease.
If the nomination meets the basic criteria, the second step is a nine-month evidence review process. During this time, the committee studies each of these criteria in detail.
Once the evidence review is complete, the committee votes on whether to recommend to the Secretary of Health and Human Services (HHS) to add the condition to the Recommended Uniform Screening Panel (RUSP). This crucial third step will happen on Thursday.
If the committee votes to add the condition to the RUSP, that recommendation then goes to the Secretary of Health and Human Services (HHS) for final approval.
Early last year, following the approval of Spinraza, Cure SMA and the SMA Newborn Screening Coalition prepared and submitted a nomination of SMA to the ACHDNC. The nomination was accepted into evidence review in May 2017.
During the nine-month review, Cure SMA and the coalition have supported the nomination through public testimony, and advocacy for adequate federal funding of newborn screening.
While the nomination has been in evidence review, Cure SMA and our advocates have also been working on state-level newborn screening advocacy. Because of this advocacy, Minnesota and Missouri have already adopted permanent newborn screening for SMA.
Several other states—including Utah, North Carolina, and Wisconsin—have begun or will soon begin pilot screening. Pilot screening is temporary, but is often a precursor to the adoption of permanent screening. In fact, some states require pilot screening before permanent screening is adopted.
Other states—including Ohio, Indiana, and Maryland, among others—are currently considering adopting permanent SMA screening.
What Happens Next
Once the committee issues its decision, we will act quickly to respond and, where needed, to mobilize our advocates. If the committee recommends that SMA be added to the RUSP, we will work to encourage a timely approval by the HHS Secretary. By law, the Secretary has 120 days to approve the recommendation.
If the committee does not recommend that SMA be added, we will work with the ACHDNC to identify ways that we can strengthen the nomination for SMA newborn screening.
No matter the outcome of this federal decision, it is vital that we continue advocating in all 50 states, since the final decision on implementation rests with each state.
If you have not already, please sign up to be an advocate. When you sign up, we’ll notify you of opportunities to advocate in your state or district.
Working together, we can save the lives of babies born with SMA.