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

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 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. 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.

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© 2023 American Academy of Neurology.

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L. Dratch has consulted for Passage Bio, Biogen, and Sano Genetics. All other authors report no disclosures relevant to the manuscript. Full disclosure form information provided by the authors is available with the full text of this article at Neurology.org/cp.FIVE NEW THINGSNeurologists should incorporate discussions of genetic testing into the care of patients with ALS/FTD spectrum disorders.Genetic testing should be offered to all patients with ALS/FTD spectrum disorders because of management and psychosocial implications, clinical trials eligibility, emerging gene-based treatments, and determination of recurrence risks for family members.When offering genetic testing, the clinician should discuss the impact of testing for the patient and their relatives, timing of test ordering and results disclosure, review of different testing options and their limitations, and overview of possible test results.Careful consideration must be given to the genetic testing being ordered and interpretation of results. Specific attention should be paid to which genes are included in the analysis and what sequencing technology is used.In diagnostic genetic testing, referral to a genetic counselor should be prioritized for those requiring (1) additional conversation regarding decision-making about testing, (2) assistance with interpretation of genetic test results (e.g., uncertain findings), (3) guidance for further genetic evaluation if initial testing is not diagnostic, and (4) additional counseling to address emotional implications or strategies to communicate with family members. Referral to a genetic counselor should be made for all asymptomatic individuals considering predictive genetic testing.