Webinar on new genetic testing guidelines

[Nikki J]

By the Les Turner learning series. It is under the education tab at Lesturner dot org. I have heard the presenter before and she has been an author on papers for this topic. Genetic testing is becoming more widespread these days but I don’t think it is offered by all clinicians

 

[Nikki J]

Les Turner just released a genetic testing decision tool. It is geared towards diagnosed PALS who are apparently SALS.

Qalsody ( tofersen) approval has made this even more of an issue. The incidence of sod1 in apparent SALS i very low but it is not zero.

even without Qalsody there are reasons to get tested- some trials and treatments are better for different mutations and their biology. Even more important I think if there is a mutation you can tell family. There are ways for carriers to have unaffected offspring, carriers can be in studies that will lead to more treatments and eventually prevention and cures. Knowing a mutation would allow that prevention.

if you are negative it provides reassurance for your family