Genetic testing in ALS: A survey of current practices.
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, andFUS) 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.
From 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.
Alice
A
Vajda
From 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.
Russell L
RL
McLaughlin
From 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.
Mark
M
Heverin
From 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.
Owen
O
Thorpe
From 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.
Sharon
S
Abrahams
From 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.
Ammar
A
Al-Chalabi
From 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.
Orla
O
Hardiman
D000690:Amyotrophic Lateral Sclerosis / Q000235:genetics*; D000073885:C9orf72 Protein; D004268:DNA-Binding Proteins / Q000235:genetics; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D005820:Genetic Testing; D006801:Humans; D007391:International Cooperation; D009154:Mutation / Q000235:genetics*; D011506:Proteins / Q000235:genetics; D034702:RNA-Binding Protein FUS / Q000235:genetics; D000072105:Superoxide Dismutase-1 / Q000235:genetics
D000073885:C9orf72 Protein; C568651:C9orf72 protein, human; D004268:DNA-Binding Proteins; C000599550:FUS protein, human; D011506:Proteins; D034702:RNA-Binding Protein FUS; C000606290:SOD1 protein, human; C000598624:TARDBP protein, human; D000072105:Superoxide Dismutase-1