Presymptomatic ALS genetic counseling and testing

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

Research output: Contribution to journalReview article

19 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)2295-2302
Number of pages8
JournalNeurology
Volume86
Issue number24
DOIs
StatePublished - Jun 14 2016

ASJC Scopus subject areas

  • Clinical Neurology

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    Benatar, M. G., Stanislaw, C., Reyes, E., Hussain, S., Cooley, A., Fernandez, M. C., Dauphin, D. D., Michon, S. C., Andersen, P. M., & Wuu, J. (2016). Presymptomatic ALS genetic counseling and testing. Neurology, 86(24), 2295-2302. https://doi.org/10.1212/WNL.0000000000002773