Laynie Dratch, ScM, CGC: The duration of disease can be extremely variable from patient to patient. The number that you hear quoted is that 2 to 5 years after diagnosis or after symptom onset is the length that individuals tend to live, but it can be much shorter than that unfortunately. For some, it can be much longer. The genetic forms tend to have an earlier onset and a faster speed of progression. Sometimes having a genetic diagnosis can help us better understand prognosis. For example, there are some specific variants within the SOD1 gene that we know are associated with more rapid progression.

Shortening the time it takes to diagnose patients is extremely important because many individuals undergo a diagnostic odyssey, where they end up seeing multiple providers over multiple years. To shorten this process, it’s important that we continue to raise awareness about what ALS [amyotrophic lateral sclerosis] is. Even though it’s not as rare as individuals want to think, it’s not a disease that gets a lot of publicity. This changed a little with the Ice Bucket Challenge on social media in 2014 and some celebrities who have been diagnosed with ALS and shared their stories, but it’s still not on everyone’s radar. For example, individuals can get referred to non-neurology providers when they’re getting evaluated for a hand surgery if they think there’s weakness in their hand that might be fixed by surgery, or they might get a spinal evaluation.

If we can raise awareness that this should be on the differential when these symptoms present, that’s important. Unfortunately, ALS continues to be a diagnosis of rollout. Even when you make it to a neurologist, it can be a long process to get the diagnosis. This is because it requires a lot of tests that can take time to schedule and multiple visits, and it can be also exhausting for the patient.

Another thing that would be great to do to shorten time to diagnosis is to continue to advocate for the introduction of genetic counseling and genetic testing early on in the process. Right now, a genetic form or a genetic variant identified doesn’t immediately lead to a diagnosis of ALS. It’s not part of the diagnostic criteria, but if a patient presents with symptoms that are consistent with ALS and a suspicious genetic variant was found in a gene related to ALS, it would probably add some weight to the diagnosis or at least raise it in the differential. By increasing general awareness of ALS, among community and primary care physicians and other specialists, and continuing to advocate and support the introduction of genetic counseling and offer genetic testing as early as possible, we can eventually shorten this time.

Transcript edited for clarity.