Biogen Collaborates with Invitae to Offer No-Charge Genetic Testing for SMA

• SMA treatment, with or without newborn screening, requires a genetic test to confirm diagnosis and disease type
• Cost of genetic testing, even with insurance, is often a barrier to diagnosis and treatment
• Part of our commitment to widening access to critical treatments

As pioneers in spinal muscular atrophy (SMA) therapies, we are committed to working to make access to SMA treatment as widely and easily accessible as possible. 

Important strides were made in 2018 when the United States (U.S.) Department of Health and Human Services (HHS) added SMA to the Recommended Uniform Screening Panel (RUSP) for newborns.

Yet, while newborn screening can help identify the disease, not all states currently have it as part of the standard screening panel.  Additionally, a genetic test is needed for those who are suspected of having SMA or who have clinical diagnosis but do not have genetic testing confirmation – without it, patients face greater challenges gaining access to treatment. This genetic test confirms diagnosis through identifying SMN1 gene deletion and SMN2 gene copy number. In the U.S. this confirmation of the disease helps to set insurance coverage in motion. Currently, prior authorizations for treatment by many U.S. insurance companies require confirmation of diagnosis via genetic testing. Some also require an SMN2 copy number.

To ensure patients receive this test as quickly and easily as possible, in April 2018 we announced SMA Identified, a collaboration with genetic testing company Invitae. SMA Identified provides genetic testing at no cost to individuals suspected of having SMA, or who have been clinically diagnosed with, SMA. While genetic testing is typically required, insurers do not always fully cover the cost of the test resulting in high out-of-pocket costs for patients or their families. This can be cost prohibitive for some individuals and result in long delays or prevent access to potential treatment options.

Even once testing happens, some labs take up to 4-6 weeks to send results. This is precious time when every day without treatment — particularly for newborns — is critical. Even with the increased availability of newborn screening, a genetic test is the only way to confirm SMA copy number, and many older patients also rely on genetic testing to confirm a prior diagnosis.

SMA Identified was designed with the goal of bypassing these barriers and offering the widest possible access to this critical test. We believe the collaboration will help avoid delays, remove challenges related to costs and ensure access to comprehensive SMA genetic testing, which Invitae turns around quickly — currently between 10 and 21 days. In order to enhance the offering and address additional market needs, Biogen has further collaborated on two new tests provided at no charge: a SMA STAT Test, providing results within four days, and a SMA Carrier Screen, to assess the risk of SMA in families. It is important to note that, while Biogen funds the program, we receive no genetic information.

SMA Identified is currently offered in the U.S. and Puerto Rico with Biogen and Invitae hoping to expand the program to other countries. We believe SMA Identified means increased access to information, which in turn may mean faster access to treatment. Life with SMA is challenging enough without barriers to treatment, and we will continue to search for means to ensure those with SMA have the access and support they need.