Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis

• Type of Material: Article
• Authors: Joanna H. Fanos, Dartmouth Medical School; Susan Gronka, Emory University; Joanne Wuu, Emory University; Christine Stanislaw, Emory University; Peter M. Andersen, Umea University; Michael Benatar, Emory University
• Language: English
• Date: 2011-04-01
• Publisher: Springer Nature [academic journals on nature.com]: Hybrid Journals - choice of CC licence
• Publication Version: Author Accepted Manuscript (After Peer Review)
• Copyright Statement: © 2011 Lippincott Williams & Wilkins.
• Final Published Version (URL): http://dx.doi.org/10.1097/GIM.0b013e318204d004
• Title of Journal or Parent Work: Genetics in Medicine
• ISSN: 1098-3600
• Volume: 13
• Issue: 4
• Start Page: 342
• End Page: 348
• Grant/Funding Information: This work was also supported in part by PHS Grant (UL1 RR025008, KL2 RR025009 or TL1 RR025010) from the Clinical and Translational Science Award program, National Institutes of Health, National Center for Research Resources.; Muscular Dystrophy Association, Woodruff Health Sciences Center at Emory University, Swedish Brain Research Foundation, the Hållstens Brain Research Foundation, the Swedish Medical Society, and the Swedish association for the neurologically disabled, National Institutes of Health.
• Keywords: SUPEROXIDE-DISMUTASE MUTATIONS; PREDICTION; SOD1; presymptomatic; ALS; familial amyotrophic lateral sclerosis; Science & Technology; POPULATION; genetic testing; MANAGEMENT; GUIDELINES; HUNTINGTONS-DISEASE; Genetics & Heredity; disclosure; SOD1 MUTATIONS; GOOD PRACTICE POINTS; Life Sciences & Biomedicine; MOTOR-NEURON DISEASE
• Research Categories: Biology, Genetics; Biology, Neuroscience

Abstract

Purpose: The Pre-familial Amyotrophic Lateral Sclerosis (Pre-fALS) study is a longitudinal study of individuals potentially at risk for developing familial amyotrophic lateral sclerosis. Our goals were to (1) explore participants' decisions of whether to learn results of presymptomatic testing or not; (2) understand the psychosocial impact of these decisions; and (3) assess preferences for receiving results by telephone or in person. Methods: The sample for this substudy comprised 20 participants drawn randomly from autosomal dominant mutant superoxide dismutase 1 families in the Pre-fALS study. Twenty participants completed a semistructured phone interview; prominent themes were identified and rated. Results: Fourteen participants chose to learn results; six had mutant superoxide dismutase 1 and eight had wild-type superoxide dismutase 1. Of the six who initially elected nondisclosure, three were reconsidering their decision. Regardless of the results and method of counseling, participants had adapted well, at least in the short term. Conclusion: We recommend that (1) those considering presymptomatic genetic testing should undergo professional counseling to help decide whether to learn results; (2) discussion should include the option of telephone genetic counseling for those without easy access to in-person counseling; and (3) those who initially decline to learn results should be offered the opportunity to learn their mutation status as their decision evolves.