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CMS-01 Genetic testing for familial amyotrophic lateral sclerosis (ALS): insights and challenges
conference contribution
posted on 2023-05-24, 19:36 authored by Crook, A, Anne HogdenAnne Hogden, Mumford, V, Blair, IP, Williams, KL, Rowe, DBPathogenic 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.
History
Pagination
327ISSN
2167-8421Department/School
Australian Institute of Health Service Management (AIHSM)Publisher
Taylor & FrancisPlace of publication
United KingdomEvent title
30th International Symposium on ALS/MNDEvent Venue
Perth, AustraliaDate of Event (Start Date)
2019-12-04Date of Event (End Date)
2019-12-06Repository Status
- Restricted