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CMS-02 Preventing amyotrophic lateral sclerosis (ALS) through reproductive genetic testing: costs and complexities


Crook, A and Mumford, V and Hogden, A and Fell, R and Blair, IP and Williams, KL and Rowe, DB, CMS-02 Preventing amyotrophic lateral sclerosis (ALS) through reproductive genetic testing: costs and complexities, 30th International Symposium on ALS/MND, 4-6 December 2019, Perth, Australia, pp. 327-328. ISSN 2167-8421 (2019) [Conference Extract]

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DOI: doi:10.1080/21678421.2019.1647002


Reducing incidence of ALS is only currently possible in families with a known pathogenic ALS gene variant, through reproductive options that prevent variants being inherited. Options include pre-implantation genetic diagnosis (PGD, through IVF) and prenatal diagnosis (PND, with a view to terminate an affected pregnancy). Individuals may also choose not to confirm their carrier status and access PGD or PND by exclusion or non-disclosure. Care of individuals deciding about these options relies on decision-making that aligns with their personal values, through genetic counselling. The goal of genetic counselling is not to reduce inherited disease prevalence but to promote informed choices and increase personal control, whilst minimising psychological distress. Uptake of genetic counselling, predictive and reproductive genetic testing is low amongst familial ALS (FALS) families. In addition, certain tests can be costly to individuals (eg. PGD).

Item Details

Item Type:Conference Extract
Keywords:genetic counselling, pre-symptomatic, prevention
Research Division:Biomedical and Clinical Sciences
Research Group:Neurosciences
Research Field:Neurology and neuromuscular diseases
Objective Division:Health
Objective Group:Evaluation of health and support services
Objective Field:Evaluation of health and support services not elsewhere classified
UTAS Author:Hogden, A (Dr Anne Hogden)
ID Code:137272
Year Published:2019
Deposited By:Australian Institute of Health Service Management
Deposited On:2020-02-06
Last Modified:2021-01-27

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