A new set of evidence-based, consensus guidelines has been developed for genetic testing and counseling in patients with amyotrophic lateral sclerosis (ALS). The guidelines, published in Annals of Clinical and Translational Neurology, recommend that all individuals with ALS should be offered comprehensive genetic testing to facilitate access to gene-targeted therapies.
The guidelines, consisting of 35 statements, were created by researchers at the Ohio State University Wexner Medical Center and College of Medicine. They aim to provide clinicians with a framework for genetic testing and offer specific recommendations on test methods and reporting.
One of the main recommendations outlined in the guidelines is that all persons with ALS should be offered single-step genetic testing, which includes a C9orf72 assay, along with sequencing of SOD1, FUS, and TARDBP as a minimum requirement.
ALS, also known as Lou Gehrig’s disease, affects more than 31,000 people in the United States. Advancements in ALS gene discovery, ongoing gene therapy trials, and patient demand have led to an increased utilization of ALS genetic testing.
The development of these guidelines is significant as the offer of genetic testing to individuals with ALS is not currently considered standard of care, and many people who desire access to genetic testing are not offered it. These guidelines aim to improve and standardize genetic counseling and testing practices among neurologists, genetic counselors, and other healthcare providers caring for individuals with ALS.
Moreover, these guidelines are meant to keep up with the rapidly evolving field of ALS genetics. As new genetic discoveries continue to emerge and our scientific understanding of the genetic basis of ALS expands, the guidelines will need periodic revisions to incorporate the latest findings and ensure a uniform and equitable approach to ALS genetic testing.
Sources:
– Annals of Clinical and Translational Neurology
– Centers for Disease Control and Prevention