title: Presymptomatic ALS genetic counseling and testing: Experience and recommendations.
abstract: 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.
authors.affiliation: 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.
authors.forename: Michael
authors.initials: M
authors.lastname: Benatar
authors.affiliation: 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.
authors.forename: Christine
authors.initials: C
authors.lastname: Stanislaw
authors.affiliation: 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.
authors.forename: Eliana
authors.initials: E
authors.lastname: Reyes
authors.affiliation: 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.
authors.forename: Sumaira
authors.initials: S
authors.lastname: Hussain
authors.affiliation: 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.
authors.forename: Anne
authors.initials: A
authors.lastname: Cooley
authors.affiliation: 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.
authors.forename: Maria Catalina
authors.initials: MC
authors.lastname: Fernandez
authors.affiliation: 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.
authors.forename: Danielle D
authors.initials: DD
authors.lastname: Dauphin
authors.affiliation: 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.
authors.forename: Sara-Claude
authors.initials: SC
authors.lastname: Michon
authors.affiliation: 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.
authors.forename: Peter M
authors.initials: PM
authors.lastname: Andersen
authors.affiliation: 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.
authors.forename: Joanne
authors.initials: J
authors.lastname: Wuu
mesh_terms: D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis* / Q000235:genetics*; D005817:Genetic Counseling / Q000379:methods*; D005820:Genetic Testing / Q000379:methods*; D006801:Humans; D017410:Practice Guidelines as Topic; D062706:Prodromal Symptoms