Richard A. Lewis, MD, explains how genetic counseling fits into ALS care and why understanding genetic factors may help guide conversations and decisions.
How do you operationalize the new guidelines suggesting genetic testing for all ALS patients?
Transcript
We have a multidisciplinary clinic, which also includes a genetic counselor. Sometimes we might defer to the genetic counselor to go over things with them.
Sometimes I can just say “We recommend getting genetic counseling and this is why.” There is one form of ALS, SOD1, that now has a treatment, a specific gene therapy. And so it behooves everyone with ALS to know whether they have that gene, even though it’s only about 1% or 2% at most of the ALS population.
I also mention that even if they don’t have a family history, sometimes other disorders are related. So if there’s a family history of Alzheimer’s or Parkinson’s, that may relate to ALS.
In studies that have looked at patients without family histories and with no evidence of genetic disease, we still find an abnormal gene that is probably causative in up to 10% of patients.
So it’s worthwhile knowing this, and there are advantages to knowing this, even if we don’t necessarily have a treatment for them at that time. It gives us a better understanding of their disease.
We can talk more realistically about things, and it may have some bearing on how they and their family talk about things. We offer it to everyone, and if patients don’t want it, that’s fine, but we would probably then suggest they get it again another time.
Sometimes it’s just, “This is too much.” “I don’t want to deal with this right now.”