Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders

Chelsea Chambers; Lauren Lichten; Ashley Crook; Wendy R Uhlmann; Laynie Dratch

doi:10.1212/CPJ.0000000000200201

Incorporating Genetic Testing Into the Care of Patients With Amyotrophic Lateral Sclerosis/Frontotemporal Degeneration Spectrum Disorders

Neurol Clin Pract. 2023 Oct;13(5):e200201. doi: 10.1212/CPJ.0000000000200201. Epub 2023 Sep 15.

Authors

Chelsea Chambers¹, Lauren Lichten¹, Ashley Crook¹, Wendy R Uhlmann¹, Laynie Dratch¹

Affiliation

¹ Department of Neurology (CC), University of Virginia, Charlottesville; Emory University School of Medicine (LL), Atlanta, GA; Macquarie University (AC); University of Technology Syndey (AC), Australia; University of Michigan (WRU), Ann Arbor; University of Pennsylvania (LD), Philadelphia.

PMID: 37736067
PMCID: PMC10511270 (available on 2024-10-01)
DOI: 10.1212/CPJ.0000000000200201

Abstract

Purpose of review: Amyotrophic lateral sclerosis (ALS) and frontotemporal degeneration (FTD) spectrum disorders have a strong genetic component. Genetic counselors are a limited resource, and therefore, other providers must be prepared to integrate genetic testing into their practice.

Recent findings: Recent ALS/FTD studies have demonstrated that lack of family history does not preclude a genetic etiology. The benefits of a genetic diagnosis have expanded to include the potential to treat; thus, genetic testing is increasingly recommended to be offered to all persons with ALS/FTD.

Summary: Offering genetic testing to persons with ALS/FTD spectrum disorders should be part of routine clinical neurologic care. All genetic testing should include discussion about the medical and psychosocial implications of testing for the patient and family members. Neurologists should be prepared to facilitate this process and recognize when referral to a genetic counselor is indicated.