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Genetic testing in ALS: A survey of current practices
Alice Vajda1, Russell L McLaughlin2, Mark Heverin2
1From the Academic Unit of Neurology (A.V., R.L.M., M.H., O.T., O.H.), Trinity College Dublin; Cognitive Aging and Epidemiology Centre (S.A.), University of Edinburgh; and Institute of Psychiatry, Psychology and Neuroscience (A.A.-C.), King's College London, UK. vajdaa@tcd.ie.
Clinician consensus on genetic testing for amyotrophic lateral sclerosis (ALS) is lacking, particularly regarding familial ALS (FALS) definitions. Practices for genetic testing and presymptomatic testing vary significantly worldwide.
Area of Science:
- Neurology
- Genetics
- Clinical Practice
Background:
- Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease.
- Genetic factors play a role in a subset of ALS cases, including familial ALS (FALS).
- Genetic testing is increasingly utilized in clinical settings for ALS diagnosis and management.
Purpose of the Study:
- To assess the level of agreement among clinicians regarding the clinical application of genetic testing in ALS.
- To identify factors influencing decision-making processes for genetic testing in ALS patients.
Main Methods:
- An international online survey was distributed to ALS researchers.
- The survey collected data on clinician attitudes and practices concerning genetic testing in ALS.
- Responses from 167 clinicians across 21 countries were analyzed.
Main Results:
- A majority (73.3%) of clinicians do not agree on a definition for familial ALS (FALS).
- Practices for offering genetic testing to patients with FALS (90.2%) and sporadic ALS (49.4%) show variation.
- Commonly tested genes include SOD1, C9orf72, TARDBP, and FUS; presymptomatic testing for relatives is inconsistently offered.
Conclusions:
- There is a notable lack of consensus on the definition of FALS among clinicians.
- Significant disparities exist in attitudes and practices concerning genetic testing and presymptomatic testing for ALS relatives.
- Variations in clinical practice are influenced by geographic region and clinician specialization.
