Downside: Limitations of genetic testing

Researchers have identified many genes that cause or increase people’s risk for developing ALS, but we still have a lot to learn. Currently, genetic testing can find some of the genetic causes of ALS — but not all of them.

That means it’s possible you could go through genetic testing and not get clear answers about whether your ALS is linked to a pathogenic variant. This is called an inconclusive result. But there’s good news. Researchers continue to identify new pathogenic variants every year, and they’re working hard to learn more about the genetic causes of ALS and develop new treatment options.

If you get an inconclusive result, or if your test results show that you don’t have a pathogenic variant, you can choose to have the lab store your DNA for future testing. That way, as researchers learn more about genes linked to ALS, your doctor or counselor may be able to share new information with you.