To identify motor neurone disease (MND) associated genetic variants and their correlation with a family history. To record the proportion of patients who are deceased when genetic results are received. 

Despite increasing recognition of the importance of genetic factors in the pathogenesis of MND, genetic testing protocols remain highly variable and often dependent on a family history of the condition and age of presentation. Recent studies demonstrate a high proportion of positive genetic cases in the absence of family history. With the arrival of gene-targeted therapies there is a growing need to promptly identify actionable genetic results, with patient death before receipt of results raising ethical dilemmas and limiting access to novel therapies. 

Genetic testing was offered to all patients presenting to the MND clinic who received a diagnosis of MND from a MND specialist. Data on demographics, disease progression and a detailed family history were taken. Targeted genetic testing was carried out for C9Orf72 as well as a wider neurodegenerative panel. Time to receipt of results and patient deaths prior to this were recorded. 

A genetic cause was identified in 10% of the initial 100 cases, including seven C9Orf72, two positive SOD1 and one HEXA case. The majority of positives were found in the absence of family history, although neurological diagnoses such as MS, dementia and dystonia in the family were noted. 14% of patients who underwent genetic testing were deceased by the time the results were received, including one actionable SOD1 case. 

Genetic testing should be made available to all patients who receive a diagnosis of MND as family history alone is often inadequate to identify potential familial cases. There is a growing need for MND-specific genetic testing protocols and time to receipt of results remains a significant issue due to the limited life expectancy following diagnosis.