期刊
NEUROLOGY
卷 88, 期 10, 页码 991-999出版社
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000003686
关键词
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资金
- JPND: Ireland
- Health Research Board
- United Kingdom, Medical Research Council [MR/L501529/1]
- Economic and Social Research Council [ES/L008238/1]
- National Institute for Health Research (NIHR) Dementia Biomedical Centre at South London and Maudsley, NHS Foundation Trust
- King's College London
- Research Motor Neurone and Science Foundation Ireland
- Motor Neurone Disease Association (MNDA)
- European Community [259867, 633413]
- ESRC [ES/L008238/1] Funding Source: UKRI
- Economic and Social Research Council [ES/L008238/1] Funding Source: researchfish
- Medical Research Council [MR/L501529/1, MR/K026992/1] Funding Source: researchfish
- Motor Neurone Disease Association [McLaughlin/Oct15/957-799, AlChalabi-Talbot/Apr14/926-794] Funding Source: researchfish
Objective: To determine the degree of consensus among clinicians on the clinical use of genetic testing in amyotrophic lateral sclerosis (ALS) and the factors that determine decision-making. Methods: ALS researchers worldwide were invited to participate in a detailed online survey to determine their attitudes and practices relating to genetic testing. Results: Responses from 167 clinicians from 21 different countries were analyzed. The majority of respondents (73.3%) do not consider that there is a consensus definition of familial ALS (FALS). Fifty-seven percent consider a family history of frontotemporal dementia and 48.5% the presence of a known ALS genetic mutation as sufficient for a diagnosis of FALS. Most respondents (90.2%) offer genetic testing to patients they define as having FALS and 49.4% to patients with sporadic ALS. Four main genes (SOD1, C9orf72, TARDBP, and FUS) are commonly tested. A total of 55.2% of respondents would seek genetic testing if they had personally received a diagnosis of ALS. Forty-two percent never offer presymptomatic testing to family members of patients with FALS. Responses varied between ALS specialists and nonspecialists and based on the number of new patients seen per year. Conclusions: There is a lack of consensus among clinicians as to the definition of FALS. Substantial variation exists in attitude and practices related to genetic testing of patients and presymptomatic testing of their relatives across geographic regions and between experienced specialists in ALS and nonspecialists.
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