Patient and relative experiences and decision-making about genetic testing and counseling for familial ALS and FTD: a systematic scoping review

Ashley Crook*, Chris Jacobs, Toby Newton-John, Ebony Richardson, Alison McEwen

*Corresponding author for this work

    Research output: Contribution to journalReview articlepeer-review

    10 Citations (Scopus)

    Abstract

    Genetic testing and counseling is an emerging part of care for patients with amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) and their families. This scoping review aimed to map patients' and relatives' experiences of genetic testing and counseling for familial ALS and FTD and the factors influencing their decision to proceed with testing or counseling. Informed by the Joanna Briggs Institute methodology, 5 databases were systematically searched. Thirty studies from 39 references were included. A descriptive numerical summary analysis and narrative synthesis was conducted. Mostly positive diagnostic testing experiences were reported, but issues arose due to progressive disease and discordant results. Predictive testing impacted at-risk relatives, regardless of the result received, and psychosocial sequelae ranged from relief to guilt, worry or contemplating suicide. Four reproductive testing experiences were reported. Personal, familial and practical factors, and the lived experience of disease, informed decision-making. Greater uncertainty and complexity may be faced in familial ALS/FTD than in other late-onset neurodegenerative diseases due to clinical and genetic heterogeneity, and testing limitations. Genetic counseling models of care should consider this difference to ensure that individuals with, or at risk of, ALS/FTD are effectively managed. Implications for research and practice are discussed.

    Original languageEnglish
    Pages (from-to)374-385
    Number of pages12
    JournalAlzheimer Disease and Associated Disorders
    Volume35
    Issue number4
    Early online date31 May 2021
    DOIs
    Publication statusPublished - Nov 2021

    Keywords

    • decision-making
    • genetic counseling
    • genetic testing
    • lived experience

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