New study suggests changes are needed in genetic testing guidelines for MND

This research, supported in part by the MND Association and published in Brain, suggests some people with a possible genetic cause of their MND are not currently eligible for genetic testing. Under current UK genetic testing guidelines many people with a genetic basis to their MND are not offered genetic testing and counselling.

Person's hand wearing a glove putting a test tube into a tray in a laboratoryGenetic testing for motor neurone disease (MND) is usually restricted to people living with MND who have family members also affected by MND, or those living with MND who do not have a family history but are under the age of 40. This means many people with MND who may have a genetic form of their disease are not being offered a genetic test, and so knowledge of this genetic cause would be missed. This knowledge may be important if clinical trials for genetic treatments and targeted genetic therapies become available.

Person wearing a nurse uniform writing with a pen on a piece of paperResearchers from King’s College London are calling for a change in the national guidelines on who can access genetic testing for MND. Even though around 90% people living with MND do not have a family history of the disease, they may still have a change in one of the genes that have been identified as a potential cause of MND. However, because qualifying for genetic testing is currently limited to those with a family history, or those under 40 if not, many people living with MND who carry genetic changes are not identified.

Researchers say that genetic testing (with genetic counselling) should be open to all patients with MND, regardless of whether or not other family members are affected, and for all ages.

Professor Ammar Al-Chalabi, Professor of Neurology and Complex Disease Genetics at King’s IoPPN, and the study’s lead author, said:

“ALS (MND) is a condition that destroys lives. Genetic testing means that people and their families can be given correct advice and access to genetic counselling and be supported with family planning. Our study found that there are large numbers of people who are unable to access this care and support because of the arbitrary age limits and rules currently in place.”

Dr Puja Mehta, the study’s first author, said:

“Our study shows the importance of offering people with ALS of all ages a blood test to identify a possible genetic cause. In addition to being able to access genetic counselling and support, with the exciting prospect of specific gene-based therapies on the horizon, and with clinical trials underway, it will become all the more important for people with ALS to know if they have an identifiable genetic cause.”

Dr Nicholas Cole, Head of Research at the MND Association said:

“This research, supported by the MND Association, adds weight to the suggestion that routine genetic testing should be offered to MND patients, regardless of their age at onset or family history of the disease. Genetic testing could provide opportunity for more people with MND to be involved in tailored clinical trials. However, it is imperative that testing is supported by a robust genetic counselling infrastructure to provide tailored support to all those who choose to embark upon this process.

“These findings are thanks to the people with MND who have generously contributed to datasets funded by the MND Association, including ProjectMine, the UK National DNA Bank for MND Research and the MND Register for England, Wales and Northern Ireland, each of which is accelerating the global effort to find treatments, and eventually a cure for MND.

“Together with our researchers, their support means we are understanding more about this complex disease and helping to focus effort and expertise in the right areas.”

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