domingo, 12 de febrero de 2017

Genetic testing in ALS: A survey of current practices. - PubMed - NCBI

2017 Feb 3. pii: 10.1212/WNL.0000000000003686. doi: 10.1212/WNL.0000000000003686. [Epub ahead of print]

Genetic testing in ALS: A survey of current practices.

Vajda A1, McLaughlin RL2, Heverin M2, Thorpe O2, Abrahams S2, Al-Chalabi A2, Hardiman O2.

Author information

Abstract

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.