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Author Notes:

Corresponding author: Michael Benatar, MBChB, DPhil, Department of Neurology, Emory University School of Medicine, Atlanta, GA 30322, Phone: (404-778-3267); Fax: (404-727-3157), michael.benatar@emory.edu.

We are grateful to the families and individuals who participated in this research.

Subjects:

Research Funding:

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.

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.

Keywords:

  • Science & Technology
  • Life Sciences & Biomedicine
  • Genetics & Heredity
  • familial amyotrophic lateral sclerosis
  • SOD1
  • presymptomatic
  • genetic testing
  • disclosure
  • MOTOR-NEURON DISEASE
  • SUPEROXIDE-DISMUTASE MUTATIONS
  • GOOD PRACTICE POINTS
  • HUNTINGTONS-DISEASE
  • SOD1 MUTATIONS
  • ALS
  • POPULATION
  • PREDICTION
  • GUIDELINES
  • MANAGEMENT

Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis

Tools:

Journal Title:

Genetics in Medicine

Volume:

Volume 13, Number 4

Publisher:

, Pages 342-348

Type of Work:

Article | Post-print: After Peer Review

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.

Copyright information:

© 2011 Lippincott Williams & Wilkins.

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