Healthcare research project: Developing a patient decision aid to support genetic testing in MND

"Genetic testing can help people understand why they have developed MND, potentially provide access to clinical trials and give their relatives an idea if they might have a chance of inheriting MND. Our project will design a much-needed "decision aid" to help people understand if having an MND genetic test is right for them and their family."  Dr Alisdair McNeil, lead researcher.

Mutations in genes can alter the function of the gene and cause MND. These mutations can be hereditary, so can be passed on from parents to children. By undergoing genetic testing, a person with MND can find out more about their prognosis, inform relatives of their potential chance of inheriting MND and, where appropriate, make family planning choices to ensure that their children do not inherit the gene. Moreover, with new treatments that target specific genetic forms of the disease being tested in trials, genetic testing helps identify “the right people for the right trial”, even allowing the possibility of testing treatments before the first symptoms appear, which may delay the onset of the disease. However, currently people with MND are not offered genetic testing as often as they could be.

Deciding whether to undergo genetic testing is a huge decision that can impact the whole family. The aim of this project, led by Dr Alisdair McNeill at the University of Sheffield, is to develop a decision aid which highlights the pros and cons of genetic testing, allowing people to have informed discussions with clinicians and make a decision that they are comfortable with. The team will develop the aid with help from people living with MND, their families, and doctors, and test it with hundreds of people affected by MND to see if it has helped their understanding and confidence in making choices about testing. This aid aims to support clinicians, people with MND and families and help improve access to genetic testing. This work underpins our promise of making MND treatable, by improving access to genetic testing and clinical trials.

This project started in April 2022 and will cost £169,614 over three years.