Predictive genetic testing for amyotrophic lateral sclerosis and frontotemporal dementia: genetic counselling considerations

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    Abstract

    Once a gene mutation that is causal of amyotrophic lateral sclerosis (ALS) and/or frontotemporal dementia (FTD) is identified in a family, relatives may decide to undergo predictive genetic testing to determine whether they are at risk of developing disease. Recent advances in gene discovery have led to a pressing need to better understand the implications of predictive genetic testing. Here we review the uptake of genetic counselling, predictive and reproductive testing, and the factors that impact the decision to undergo testing, for consideration in clinical practice.The literature suggests that the factors impacting the decision to undergo testing are complex due to the nature of these diseases, absence of available preventative medical treatment and variable age of onset in mutation carriers. Gaining further insight into the decision-making process and the impact of testing is critical as we seek to develop best-practice guidelines for predictive testing for familial ALS and FTD.
    Original languageEnglish
    Pages (from-to)475-485
    Number of pages11
    JournalAmyotrophic Lateral Sclerosis and Frontotemporal Degeneration
    Volume18
    Issue number7-8
    Early online date6 Jun 2017
    DOIs
    Publication statusPublished - 2017

    Keywords

    • genetic counselling
    • predictive genetic testing
    • pre-symptomatic testing
    • Genetic counselling

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