Presymptomatic ALS genetic counseling and testing: Experience and recommendations

Michael Benatar; Christine Stanislaw; Eliana Reyes; Sumaira Hussain; Anne Cooley; Maria Catalina Fernandez; Danielle D Dauphin; Sara-Claude Michon; Peter M Andersen; Joanne Wuu

doi:10.1212/WNL.0000000000002773

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Presymptomatic ALS genetic counseling and testing: Experience and recommendations

Journal article

Open access

Peer reviewed

Presymptomatic ALS genetic counseling and testing: Experience and recommendations

Michael Benatar, Christine Stanislaw, Eliana Reyes, Sumaira Hussain, Anne Cooley, Maria Catalina Fernandez, Danielle D Dauphin, Sara-Claude Michon, Peter M Andersen and Joanne Wuu

Neurology, Vol.86(24), pp.2295-2302

2016-06-14

DOI: https://doi.org/10.1212/WNL.0000000000002773

PMCID: PMC4909562

PMID: 27194384

Abstract

Amyotrophic Lateral Sclerosis - genetics

Humans

Amyotrophic Lateral Sclerosis - diagnosis

Genetic Counseling - methods

Prodromal Symptoms

Genetic Testing - methods

Practice Guidelines as Topic

Remarkable advances in our understanding of the genetic contributions to amyotrophic lateral sclerosis (ALS) have sparked discussion and debate about whether clinical genetic testing should routinely be offered to patients with ALS. A related, but distinct, question is whether presymptomatic genetic testing should be offered to family members who may be at risk for developing ALS. Existing guidelines for presymptomatic counseling and testing are mostly based on small number of individuals, clinical judgment, and experience from other neurodegenerative disorders. Over the course of the last 8 years, we have provided testing and 317 genetic counseling sessions (including predecision, pretest, posttest, and ad hoc counseling) to 161 first-degree family members participating in the Pre-Symptomatic Familial ALS Study (Pre-fALS), as well as testing and 75 posttest counseling sessions to 63 individuals with familial ALS. Based on this experience, and the real-world challenges we have had to overcome in the process, we recommend an updated set of guidelines for providing presymptomatic genetic counseling and testing to people at high genetic risk for developing ALS. These recommendations are especially timely and relevant given the growing interest in studying presymptomatic ALS.

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Collaboration types: Domestic collaboration; International collaboration
Citation topics: 1 Clinical & Life Sciences; 1.52 Neurodegenerative Diseases; 1.52.765 Amyotrophic Lateral Sclerosis
Web Of Science research areas: Clinical Neurology
ESI research areas: Neuroscience & Behavior

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Title: Presymptomatic ALS genetic counseling and testing: Experience and recommendations
Creators: Michael Benatar - From 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
Christine Stanislaw - From 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
Eliana Reyes - From 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
Sumaira Hussain - From 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
Anne Cooley - From 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
Maria Catalina Fernandez - From 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
Danielle D Dauphin - From 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
Sara-Claude Michon - From 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
Peter M Andersen - From 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
Joanne Wuu - From 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
Publication Details: Neurology, Vol.86(24), pp.2295-2302
Academic Unit: Miller School of Medicine; UMMG Department of Neurology; UMMG Dept of Neurology - Neuromuscular Disorders Div
Language: English
Resource Type: Journal article
PMID: 27194384
PMCID: PMC4909562
Record Identifier: 991031597022402976