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64 Genetic testing in motor neurone disease (MND) clinic: audit of clinical effectiveness and patient experience

jnnp · 2025-11-26 · canonical JSON source

6 visible annotations · policy: published · automated confidence ≥ 75.00%

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Background Recent developments in MND and the new national genomic test directory means it is now considered standard of care to offer genetic testing to all those diagnosed with MND.Aims Audit of MND genetic testing processes, results, and patients’ perceptions at St George’s Hospital.Methods A 24-month retrospective review of clinical notes and patient surveyResults A total of 110 individuals with an MND diagnosis were referred to our neurogenetics nurse of which 90 were white, 11 Asian, 3 Black, 4 mixed and 2 other ethnicities. 79(71%) decided to proceed to genetic testing. 57 have received results to date including 10 confirmed genetic diagnosis (five C9 orf expansion, three SOD1 and two TARDBP mutations). Genetic cause identified in 9% of cases referred but 17.6% of completed tests. The average time between their activation of testing and receipt of results was 282 days (range15-547 days). Negative results took longer average 325 days (range20-547 days), compared to 125 days (range 15-518 days) for positive results. A significant number patients died before receiving results.Conclusions 17.6% of results received to date showed pathogenic mutations and three patients were treated with Tofersen. 29% of those offered testing did not proceed to test activation after speaking to neurogenetic nurse. There remains a significant delay to reporting especially of negative results resulting in and distress to patients and families.clare.galtrey@stgeorges.nhs.uk