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Presymptomatic ALS genetic counseling and testing: Experience and recommendations
Michael Benatar1, Christine Stanislaw2, Eliana Reyes2
1From the Department of Neurology (M.B., E.R., S.H., A.C., M.C.F., D.D.D., S.-C.M., J.W.), University of Miami, FL; Winship Cancer Institute and Department of Human Genetics (C.S.), Emory University, Atlanta, GA; and Department of Pharmacology and Clinical Neuroscience (P.M.A.), Umeå University, Sweden. mbenatar@miami.edu.
Genetic testing for amyotrophic lateral sclerosis (ALS) is evolving. Updated guidelines are recommended for presymptomatic genetic counseling and testing for at-risk family members, based on extensive study experience.
Area of Science:
- Neurogenetics
- Clinical Genetics
- Neurodegenerative Diseases
Background:
- Advances in understanding genetic contributions to ALS.
- Debate on routine clinical genetic testing for ALS patients.
- Need for updated guidelines for presymptomatic genetic testing in at-risk families.
Purpose of the Study:
- To propose updated guidelines for presymptomatic genetic counseling and testing in individuals at high risk for ALS.
- To share practical experience and address challenges in providing genetic testing and counseling for familial ALS.
Main Methods:
- Conducted the Pre-Symptomatic Familial ALS Study (Pre-fALS) over 8 years.
- Provided genetic testing and counseling to 161 first-degree family members.
- Offered posttest counseling to 63 individuals diagnosed with familial ALS.
Main Results:
- Accumulated extensive experience in genetic counseling and testing for familial ALS.
- Identified real-world challenges in the process of presymptomatic genetic testing.
- Gathered data to inform updated guidelines for genetic services in ALS.
Conclusions:
- Current guidelines for presymptomatic genetic testing are limited.
- Experience from Pre-fALS study supports the need for revised guidelines.
- Updated guidelines are crucial for managing genetic risk in familial ALS, especially with growing research interest.
