The Secretary’s Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) announced that they have accepted spinal muscular atrophy into the review process for the Recommended Uniform Screening Panel (RUSP). The RUSP is a list of conditions that all newborns in the US are recommended to be screened for.
The RUSP application for SMA now moves into evidence review, which is a six to nine month process. Once the evidence review is completed, the committee will make a recommendation to the Secretary of Health and Human Services, who will determine whether SMA will be added to the RUSP. The review by the HHS Secretary can also take several months, meaning a final decision on the RUSP application could come in mid-2018.
“We are pleased that the committee has taken this significant first step toward recommending SMA for inclusion on the RUSP,” said Jill Jarecki, PhD, Cure SMA’s chief scientific officer. “Adding SMA to the federal guidelines would help ensure that all babies born with SMA receive the best change for prompt, effective treatment. As the committee continues their review, we will continue our advocacy for SMA screening implementation. Thank you again to our working group for their hard work on the nomination.”
At the meeting, the committee heard testimony from the SMA community in support of the application. Dr. Jarecki testified, along with Debra Schaefer, who has had two granddaughters affected by SMA: one who passed away in 2012, and one who was diagnosed in utero and has benefited from early treatment with Spinraza.
While the RUSP application is reviewed, our community’s work on newborn screening continues in earnest. This includes:
- Creating a treatment plan for infants who test positive for SMA during the screening process. This treatment plan answers several critical questions, including which SMA types (based on SMN2 copy number) will receive drug pre-symptomatically and what symptoms would trigger treatment for others, how the medical community will ensure prompt access to treatment, and how families will be connected to a doctor who can manage the full range of care required for SMA. We plan for this project to be completed before a final decision is made on the RUSP.
- Working with Congress to ensure federal funding is appropriated for newborn screening.
- Working with state labs and the CDC to secure funding and execution of state-level pilot screening projects where needed. The information learned in these state pilots can be used to ensure a speedy, smooth implementation process, once SMA screening is adopted.
- Advocating at the state level for SMA newborn screening. Because the list of conditions on the RUSP is not mandatory, each state will make its own determination on whether SMA will be added. Further, many states have a process that allows them to adopt SMA newborn screening before a final decision is issued on the RUSP application.
Training Advocates Throughout Our Community
The decision on implementing newborn screening for SMA ultimately rests with each individual state, meaning we will need “SMA champions” in all 50 states to help advocate on behalf of our community. While a successful RUSP application will strongly support our case for implementation, in most states we do not need to wait for a decision in order to begin the process.
To help support our community’s efforts, we will be offering a number of advocacy training opportunities and materials.
- We will hold a newborn screening symposium at the Annual SMA Conference. The purpose of this symposium is to train our community to advocate for newborn screening in their respective states.
- We will host a newborn screening webinar in July, to provide this training for those who were not able to attend the Annual SMA Conference
- We will be releasing an advocacy toolkit: Newborn Screening for SMA: Tools for Advocates Working to Improve Children’s Lives. The toolkit covers an overview of SMA, an introduction to effective advocacy across different levels of government and legislation, and leave-behind resources including an SMA fact sheet, a one-pager on the importance of newborn screening, and a series of key talking points for policymakers.
The RUSP application was prepared and submitted by a Newborn Screening Working Group comprised of staff and members of the board of directors of Cure SMA, representatives from Muscular Dystrophy Association, and a panel of SMA clinicians and researchers. We thank them for their hard work in writing the application, and for their continued work as the application moves through this process.
The SMA Newborn Screening Coalition will also continue to support the RUSP application and the other aspects of newborn screening advocacy described above. Members of the SMA Newborn Screening Coaltion include representatives from pharmaceutical companies Biogen and AveXis, and staff members from Cure SMA, with guidance from representatives from the District Policy Group, a DC-based public policy firm that provides advocacy support to Cure SMA.