Title: “Unlocking Hope for ALS: Guidelines for Genetic Testing and Counseling”
Researchers at The Ohio State University Wexner Medical Center and College of Medicine have paved the way for improved genetic testing and counseling for patients with amyotrophic lateral sclerosis (ALS), a debilitating neurodegenerative disease affecting the brain and spine. These guidelines offer a structured approach to genetic testing, ensuring patients receive the information and support they need before and after testing.
ALS, also known as Lou Gehrig’s disease, affects over 31,000 individuals in the United States. Recent advances in ALS gene research, ongoing gene therapy trials, and patient demand have led to a surge in ALS genetic testing.
The newly published guidelines, comprising 35 evidence-based statements in the journal Annals of Clinical and Translational Neurology, emphasize the importance of offering comprehensive genetic testing to all individuals with ALS. This approach aims to facilitate genetic diagnosis and personalized gene-targeted therapies, now available at the Ohio State University Wexner Medical Center ALS/Motor Neuron Disease Multidisciplinary Clinic and Translational Research Program.
Jennifer Roggenbuck, an associate professor and licensed genetic counselor at Ohio State Wexner Medical Center, states, “Despite this progress, 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.”
These guidelines were developed through the collaborative efforts of experts in the field, ensuring that each recommendation is grounded in scientific evidence. In summary, all ALS patients should be presented with single-step genetic testing, including C9orf72 assay, alongside sequencing of SOD1, FUS, and TARDBP, at a minimum.
Stephen Kolb, a professor of neurology and biological chemistry and pharmacology at The Ohio State University College of Medicine, comments, “Rapid progress in the discovery of ALS-associated genes, and a growing recognition of the genetic basis of clinically sporadic ALS, has opened the door to an era of gene-targeted therapies for persons with ALS. These evidence-based, consensus guidelines will support all stakeholders in the ALS community in navigating benefits and challenges of genetic testing.”
While genetic counselors in the United States play a vital role in the care of individuals with ALS, not everyone has access to multidisciplinary care clinics. These guidelines aim to bridge that gap, allowing neurologists, nurse practitioners, general practitioners, and other healthcare providers to adopt standardized genetic testing and counseling practices.
Roggenbuck emphasizes that these guidelines represent the current state of genomic technology, which will evolve as our understanding of ALS genetics deepens. As new genetic discoveries emerge and genetic therapies progress, these guidelines will be updated to ensure equitable access to ALS genetic testing for all affected individuals.