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A survey of current practice in genetic testing in amyotrophic lateral sclerosis in the UK and Republic of Ireland: implications for future planning.
- Source :
-
Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration . Aug2023, Vol. 24 Issue 5/6, p405-413. 9p. - Publication Year :
- 2023
-
Abstract
- Objective: To determine the current practice in genetic testing for patients with apparently sporadic motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) and asymptomatic at-risk relatives of familial MND/ALS patients seen in specialized care centers in the UK. Methods: An online survey with 10 questions distributed to specialist healthcare professionals with a role in requesting genetic testing working at MND/ALS care centers. Results: Considerable variation in practice was found. Almost 30% of respondents reported some discomfort in discussing genetic testing with MND/ALS patients and a majority (77%) did not think that all patients with apparently sporadic disease should be routinely offered genetic testing at present. Particular concerns were identified in relation to testing asymptomatic at-risk individuals and the majority view was that clinical genetics services should have a role in supporting genetic testing in MND/ALS, especially in asymptomatic individuals at-risk of carrying pathogenic variants. Conclusions: Variation in practice in genetic testing among MND/ALS clinics may be driven by differences in experience and perceived competence, compounded by the increasing complexity of the genetic underpinnings of MND/ALS. Clear and accessible guidelines for referral pathways between MND/ALS clinics and clinical genetics may be the best way to standardize and improve current practice, ensuring that patients and relatives receive optimal and geographically equitable support. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 21678421
- Volume :
- 24
- Issue :
- 5/6
- Database :
- Academic Search Index
- Journal :
- Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration
- Publication Type :
- Academic Journal
- Accession number :
- 164784674
- Full Text :
- https://doi.org/10.1080/21678421.2022.2150556