New National Guidelines Are Step Toward ‘More Consistent and Comprehensive Approach’ to ALS Genetic Counseling and Testing


With the Food and Drug Administration’s approval of the first gene-targeted therapy for ALS – and at least nine more in clinical development – genetic counseling and testing has become increasingly important. However, genetic counseling and testing is still not routinely offered to people with ALS in the United States.

According to new evidence-based consensus guidelines published in the Annals of Clinical and Translational Neurology, everyone living with ALS should be offered genetic counseling and testing. 

“The offer of genetic testing to persons with ALS is not yet ‘standard of care,’ and many people who desire access to genetic testing are not offered it. We developed ALS genetic counseling and testing guidelines to improve and standardize genetic counseling and testing practice among neurologists, genetic counselors or any provider caring for persons with ALS,” said Jennifer Roggenbuck, a licensed genetic counselor and associate professor at Ohio State Wexner Medical Center, in a press release.

Roggenbuck received a grant from The ALS Association to support the development of these guidelines, which provide clinicians with a framework for offering genetic testing. In addition, the guidelines outline the information that should be discussed before and after testing and provide testing laboratories with specific recommendations regarding test methods and reporting. 

“Knowing their genetic status is important for people with ALS to access treatments as early as possible and to potentially be eligible to participate in genetically based clinical trials. Getting a genetic diagnosis and counseling shouldn’t depend on where you live or the doctor you see. These evidence-based, consensus guidelines move us toward a more consistent and comprehensive approach to testing and counseling,” said Paul Larkin, Ph.D., director of research at The ALS Association, who served on the 40-member ALS Genetic Testing and Counseling Guidelines Expert Panel.

The guidelines recommend that all people with ALS, regardless of their family history, be offered genetic counseling in addition to testing for mutations in the most common genes linked to the disease – C9orf72, SOD1, FUS and TARDBP (at a minimum) – because genetic mutations can occur in both the familial and sporadic forms of the disease. In fact, research has shown that about two out of three people with familial ALS and about one out of 10 people with sporadic ALS have a mutation in a known ALS-linked gene.

“I have no known family history of ALS, and yet a gene mutation was identified in me,” Larry Falivena, a member of The ALS Association’s Board of Trustees who is living with ALS, wrote in a blog post earlier this year. Because Falivena discovered he had a mutation in the SOD1 gene, he was able to join a clinical trial of tofersen, which is now known as Qalsody following its approval by the FDA this past spring.

Larry Falivena
In my opinion, that one decision, getting a genetic test, changed the course of my disease and my life."
Larry Falivena

The decision whether to get a genetic test is a very personal one, and it may not be right for everyone. However, it’s important that everyone with ALS be given the opportunity and information they need to weigh the benefits and drawbacks for themselves and their families. These guidelines serve as a “first step,” according to Roggenbuck, "toward a uniform and equitable approach to ALS genetic testing.”

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