Researchers at Ohio State University Wexner Medical Center and College of Medicine have developed evidence-based consensus guidelines for genetic testing and counseling for patients with amyotrophic lateral sclerosis (ALS), a neurodegenerative disease affecting the brain and spine. These guidelines offer clinicians a framework for offering genetic testing to ALS patients, providing recommendations for test methods and reporting. Additionally, the guidelines stress the importance of providing patients with comprehensive information before and after testing.
Published in the Annals of Clinical and Translational Neurology, the guidelines highlight the recommendation that all ALS patients be offered comprehensive genetic testing, allowing for faster genetic diagnosis and access to gene-targeted therapies. This development is particularly significant since ALS, also known as Lou Gehrig’s disease, currently affects more than 31,000 people in the United States alone.
Dr. Jennifer Roggenbuck, a licensed genetic counselor and associate professor at Ohio State Wexner Medical Center, emphasized the importance of these guidelines in improving and standardizing genetic testing for ALS. Despite recent progress in ALS gene discovery, many patients are still not offered genetic testing. The guidelines aim to bridge this gap and ensure that all individuals with ALS have the option of genetic testing.
The guidelines recommend single-step genetic testing for all ALS patients, including the C9orf72 assay, as well as sequencing of SOD1, FUS, and TARDBP. These recommendations align with the rapid advancements in ALS gene discovery and the increasing demand for gene-targeted therapies.
In addition to benefiting patients, these guidelines can also be adopted by various healthcare providers involved in the care of ALS patients, including neurologists, nurse practitioners, and general practitioners. They serve as a first step toward a standardized and equitable approach to ALS genetic testing, with the understanding that the guidelines may need periodic revisions as new genetic discoveries and therapies emerge.
Genetic counselors certified by the American Board of Genetic Counseling play a valuable role in providing care to individuals with ALS. By implementing these guidelines, more patients will have access to multidisciplinary care clinics and the necessary testing and counseling services.