The complexities of newborn screening require a sophisticated, multifaceted approach. With this in mind, Cure SMA has been working on newborn screening through several different avenues, bringing our full resources to ensure that babies born with SMA have the opportunity to receive early treatment for maximum effectiveness.
We are working with family advocates, clinicians, legislators and administrators, to encourage speedy implementation of SMA newborn screening. This process requires resources in all 50 states.
We also remain engaged at the federal level, ensuring that federal newborn screening programs are adequately funded, particularly those designed to help states begin screening for newer conditions like SMA. This year, thanks to our advocacy, funding for the Health Resources and Services Administration (HRSA) Heritable Disorders Program and the CDC’s newborn screening quality assurance program both increased significantly. We also secured increases in funding for biomedical research at the National Institutes of Health and the Department of Defense’s research programs, which include SMA.
Families that receive an SMA diagnosis through newborn screening are another example of how rapidly the experience of SMA is changing. While they will face many of the same issues as families that receive a symptomatic diagnosis, they will also have their own unique experiences and decisions to make.
We’re already working to address this, developing educational materials that will help families who receive a diagnosis through newborn screening understand their options and make the decisions that are best for their child and their family.
Once states begin screening for SMA, they will need to quickly connect families with treatment options near them, direct them to centers experienced in SMA care, educate families on next steps, and follow up to make sure babies are reaching the best outcomes.
That’s why we’re building partnerships with states as they prepare to screen, educating them about our family support programs and our SMA Care Center Network.
By working with states, we’ll help make sure families get timely treatment and care, connect with our community, and receive the resources they need at every step of the way. In addition, Cure SMA made grants to four states to help cover start-up costs for SMA screening, thus avoiding a common barrier to speedy implementation of screening.
Clinicians who care for babies identified through newborn screening must venture into uncharted waters. With that in mind, Cure SMA convened a working group of SMA clinicians to set a standard for how babies with SMA will be guided toward appropriate treatment. This work was published in the Journal of Neuromuscular Diseases in April.
Cure SMA is also building a newborn screening data portal. This portal will be used to collect information on outcomes for these babies, building an evidence-based standard of care for those identified through newborn screening.
Congress is currently in the process of determining the funding levels for two critical programs that help states develop new tests, meet scientific quality standards, and educate the public, along with healthcare providers, about newborn screening programs.
We need your help to make sure the federal government knows how important newborn screening is to ensure the best possible treatment for SMA. Take action today and tell your Senators and Representatives to support the highest level of funding possible for federal newborn screening programs.
If you missed our post earlier in the week, read more on what we’ve accomplished in progressing SMA newborn screening.