MND Association-funded study suggests routine genetic testing could have positive impact on care

SITraN building

Research, funded by the MND Association, suggests routine genetic testing should be considered for all MND patients, which could in turn have a positive impact on care and providing more opportunity for involvement in ‘personalised’ clinical trials.

The new study, carried out at the University of Sheffield as part of the AMBRoSIA biobank and in collaboration with the international Project MinE gene-hunting consortium, used genetic sequencing techniques to examine MND-relevant genes in 100 patients.  Between 5 and 10 per cent of cases of MND show a family history of the disease, but researchers found gene changes in a higher than expected number of patients.

The researchers, who reported their findings today in The Journal of Neurology, Neurosurgery and Psychiatry, propose that genetic testing could be appropriate for all MND patients whether or not they have a family history of the disease. Currently only patients with a family history of MND and/or frontotemporal dementia, or who experience disease onset at a young age are routinely offered genetic screening in the UK. However, with the development of new therapies targeting specific genetic forms of the disease, the researchers raise the question of whether all MND patients should be offered screening.

Professor Dame Pamela Shaw, Director of the Sheffield Institute for Translational Neuroscience (SITraN) and the NIHR Sheffield Biomedical Research Centre said

“Our study suggests that all patients with MND should, with careful counselling, be offered genetic testing.”

“We hope that by screening all MND patients for gene mutations that are a known factor in MND, we can further our knowledge on subclassification of the disease, but also ensure that patients have access to clinical trials that are relevant for them personally.

“This is increasingly important in light of the new personalised medicine treatments in development for MND that target a specific gene mutation to ensure that patients have access to potential treatments that could be beneficial to them.”

Dr Brian Dickie, Director of Research Development at the Motor Neurone Disease Association said

“MND is a complex disease involving a complex mix of genetic and environmental factors. This latest research sheds more light on the genetic component and will hopefully lead to greater availability of genetic testing to aid earlier diagnosis, better care planning and more tailored treatments in the future.

‘This study was supported by funds raised through the Ice Bucket Challenge with generous additional support from the Linbury Trust, London City Swim Foundation and Credit Suisse UK. The study will be widened to include analysis of additional samples from two other clinics collaborating on this MND Association funded project. This will provide an even clearer picture of the UK MND ‘genetic landscape’.”

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