Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis

Joanna H. Fanos, Susan Gronka, Joanne Wuu, Christine Stanislaw, Peter M. Andersen, Michael G Benatar

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)342-348
Number of pages7
JournalGenetics in Medicine
Volume13
Issue number4
DOIs
StatePublished - Apr 1 2011
Externally publishedYes

Fingerprint

Genetic Testing
Counseling
Telephone
Genetic Counseling
Longitudinal Studies
Interviews
Mutation
Superoxide Dismutase-1
Amyotrophic lateral sclerosis 1

Keywords

  • disclosure
  • familial amyotrophic lateral sclerosis
  • genetic testing
  • presymptomatic
  • SOD1

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis. / Fanos, Joanna H.; Gronka, Susan; Wuu, Joanne; Stanislaw, Christine; Andersen, Peter M.; Benatar, Michael G.

In: Genetics in Medicine, Vol. 13, No. 4, 01.04.2011, p. 342-348.

Research output: Contribution to journalArticle

Fanos, Joanna H. ; Gronka, Susan ; Wuu, Joanne ; Stanislaw, Christine ; Andersen, Peter M. ; Benatar, Michael G. / Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis. In: Genetics in Medicine. 2011 ; Vol. 13, No. 4. pp. 342-348.
@article{8f284e4cee534b5fb362ceb31d87b86b,
title = "Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis",
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.",
keywords = "disclosure, familial amyotrophic lateral sclerosis, genetic testing, presymptomatic, SOD1",
author = "Fanos, {Joanna H.} and Susan Gronka and Joanne Wuu and Christine Stanislaw and Andersen, {Peter M.} and Benatar, {Michael G}",
year = "2011",
month = "4",
day = "1",
doi = "10.1097/GIM.0b013e318204d004",
language = "English",
volume = "13",
pages = "342--348",
journal = "Genetics in Medicine",
issn = "1098-3600",
publisher = "Lippincott Williams and Wilkins",
number = "4",

}

TY - JOUR

T1 - Impact of presymptomatic genetic testing for familial amyotrophic lateral sclerosis

AU - Fanos, Joanna H.

AU - Gronka, Susan

AU - Wuu, Joanne

AU - Stanislaw, Christine

AU - Andersen, Peter M.

AU - Benatar, Michael G

PY - 2011/4/1

Y1 - 2011/4/1

N2 - 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.

AB - 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.

KW - disclosure

KW - familial amyotrophic lateral sclerosis

KW - genetic testing

KW - presymptomatic

KW - SOD1

UR - http://www.scopus.com/inward/record.url?scp=79954986867&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=79954986867&partnerID=8YFLogxK

U2 - 10.1097/GIM.0b013e318204d004

DO - 10.1097/GIM.0b013e318204d004

M3 - Article

C2 - 21285887

AN - SCOPUS:79954986867

VL - 13

SP - 342

EP - 348

JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

IS - 4

ER -