The president and chief executive officer of The ALS Association provided insight on the availability of genetic testing for ALS and the organization’s efforts to increase access for the future. [WATCH TIME: 2 minutes]
WATCH TIME: 2 minutes
"We’re creating programs to offer genetic testing and counseling. I always say, ‘and counseling’ because it’s so important and sometimes gets left off or not covered. There’s a lot of genetic testing happening across the research space, and we see that, but it’s kind of in fits and starts. We want to create it so that it’s more of a standard offering."
One of the most revolutionary advents to understanding amyotrophic lateral sclerosis (ALS) has been the introduction of genetic testing. About two-thirds of individuals with familial ALS and 10% of people with sporadic or singleton ALS have a known disease-associated genetic mutation. For individuals with familial ALS, a genetic test may help identify what’s causing the disease, as well as the risk of disease in related family members.
The process typically works by traveling to a doctor’s office or hospital and having blood taken, where it is then assessed in a private laboratory. Health insurance plans will often cover the cost of genetic testing when it’s recommended by a physician, and efforts from organizations such as The ALS Association are trying to improve the access to these options. The ALS Identified program, sponsored by Biogen and offered through the diagnostic company Invitae, offers genetic testing to people with ALS and their families at no charge.
Invitae’s ALS Panel looks for mutations in more than 20 genes that are associated with ALS, including the C9orf72 gene. The test, which is available to people with ALS and those with a family history of ALS, can be self-administered at home, with results expected to arrive at your doctor in 2-3 weeks. Calaneet Balas, MSc, MBA, president and chief executive officer of The ALS Association, feels strongly about increasing the access to genetic testing, noting that it may end up showing more than a patient thinks. In a discussion about the organization’s future plans, Balas commented on the current use of genetic testing, the programs currently in place, and the future outlook going forward.