Studies conducted on mouse models of spinal muscular atrophy (SMA) have led scientists to believe that it is imperative to receive treatment as early as possible, even as soon as the child is born. Knowing this, the SMA research community has begun working on ways to establish newborn screening (NBS) for SMA.
A federal committee is normally tasked to make recommendations on which diseases should require newborn screening, but many states implement their own requirements. In 2008, those supporting and affected by SMA nominated the disease to be included in the Recommended Uniform Screening Panel. The committee initially denied the appeal, saying there would have to be lead information at a state lab level, and further findings on which medications and treatments are currently available, and how patients can benefit from a much earlier start of treatment.
These points were discussed during one of Cure SMA’s sessions. Robert Vogt, PhD from the CDC spoke during the session, explained the history of newborn screening in the US, and shared an update on his group’s efforts to develop an NBS test for SMA. Dr. Vogt was followed by Dr. Kathryn Swoboda from Massachusetts General Hospital, who discussed the findings of her NBS state pilots in Utah and Colorado – all backed by the NICHD and NIH. Here she was able to bring up one of the main challenges of carrying out NBS – the consent process, which is often time-consuming and costly.
The final and closing speaker was Thomas H. Murray, PhD from the The Hastings Center, who talked about the possible ethical implications of NBS. According to him, the primary ethical rational for these tests is to address the child’s problem before symptoms and/or disabilities become full blown, and so his/her family can be prepared
He concluded with the following statement, “We have an opportunity to contribute to creating a system of newborn screening that is ethically sound, scientifically grounded, and continuously self-examining. This system can and should assure that genetic information is used for the good of children and families.”
Cure SMA has recently announced the release of an update to its drug pipeline of products currently under development to treat SMA. The organization has revealed its enthusiasm with both the increased number of projects and the advancements accomplished.