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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, DB
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.

History

Pagination

327

ISSN

2167-8421

Department/School

Australian Institute of Health Service Management (AIHSM)

Publisher

Taylor & Francis

Place of publication

United Kingdom

Event title

30th International Symposium on ALS/MND

Event Venue

Perth, Australia

Date of Event (Start Date)

2019-12-04

Date of Event (End Date)

2019-12-06

Repository Status

  • Restricted

Socio-economic Objectives

Public health (excl. specific population health) not elsewhere classified

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