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CMS-01 Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges


Crook, A and Hogden, A and Mumford, V and Blair, IP and Williams, KL and Rowe, DB, CMS-01 Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges, 30th International Symposium on ALS/MND, 4-6 December 2019, Perth, Australia, pp. 327. ISSN 2167-8421 (2019) [Conference Extract]

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DOI: doi:10.1080/21678421.2019.1647002


Pathogenic variants in ALS genes are known to be present in up to 70% of familial and 10% of apparently sporadic ALS cases, and can be associated with risks for ALS only, or risks for other neurodegenerative diseases (eg. frontotemporal dementia). While there are no changes to medical management for patients confirmed as pathogenic variant carriers, genetic testing may be important for future drug trials. Confirmation of a pathogenic variant also provides relatives with the opportunity to consider predictive and/or reproductive genetic testing. Genetic counselling is an important aspect of testing decision-making as it enables individuals to make informed decisions about genetic testing while minimising adverse psychological, ethical and legal outcomes. Few studies have explored how individuals decide whether to pursue testing, nor the needs and experiences of familial ALS families.

Item Details

Item Type:Conference Extract
Keywords:genetic counselling, FALS, genetic testing
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Health
Objective Group:Public health (excl. specific population health)
Objective Field:Public health (excl. specific population health) not elsewhere classified
UTAS Author:Hogden, A (Dr Anne Hogden)
ID Code:137274
Year Published:2019
Deposited By:Australian Institute of Health Service Management
Deposited On:2020-02-06
Last Modified:2020-02-17

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