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How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS. | LitMetric

How the prospect of a clinical trial impacts decision-making for predictive genetic testing in ALS.

Amyotroph Lateral Scler Frontotemporal Degener

Montreal Neurological Institute-Hospital, Department of Neurology & Neurosurgery, McGill University, Montreal, Canada.

Published: November 2024

AI Article Synopsis

  • Genetic testing for individuals at-risk for familial ALS is evolving due to new therapies, prompting this study to examine how the prospect of clinical trial participation impacts their views on predictive genetic testing.
  • The research utilized both surveys and interviews with twelve participants who had undergone predictive testing, revealing three key themes: the psychosocial effects of familial ALS, attitudes towards research participation, and the importance of genetic counseling.
  • Findings indicate that at-risk individuals see joining presymptomatic trials as a motivating factor for getting tested, highlighting the urgent need for accessible genetic counseling to support informed decision-making in light of potential gene-targeted treatments.

Article Abstract

Genetic testing practices are rapidly evolving for people living with, or at-risk for, amyotrophic lateral sclerosis (ALS), due to emerging genotype-driven therapies. This study explored how individuals at-risk for familial ALS (fALS) perceive the opportunity to participate in a clinical trial, and to better understand how that may influence the decision-making process for predictive genetic testing. This study used both quantitative and qualitative data analyses. Data were collected through an online questionnaire, followed by semi-structured interviews conducted with twelve (n = 12) individuals at-risk for either or -ALS who had predictive testing prior to study participation. Interview data were analyzed using reflexive thematic analysis. Three overarching themes were conceptualized from the data: i) the psychosocial impact of fALS; ii) perspectives of at-risk individuals on research involvement; and iii) predictive genetic counseling and testing considerations. These results contribute perspectives of the lived experience to inform predictive genetic counseling and testing practices for individuals at-risk for fALS. Individuals at-risk for fALS view potential participation in a presymptomatic clinical trial as an actionable measure that may increase their desire for predictive genetic testing. Genetic counseling was identified as a critical component of the predictive testing process given the life-changing implications associated with a positive result. Increased access to predictive genetic counseling, and in a timely manner, is a significant need in the ALS population given potential access to gene-specific therapies in the presymptomatic stage.

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Source
http://dx.doi.org/10.1080/21678421.2024.2423718DOI Listing

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