Developing resources to support information sharing of genomic test results in MND

In a minority of people with MND, their condition can be caused by a change in a gene. Genes are instructions to make our bodies work, and when there are mistakes in particular genes, they can lead to illnesses including MND. The genes that can cause MND are passed down through families, and children of people who carry these genes have a 50% chance of inheriting it. Knowing there is, or could be, an MND-linked gene change in the family, can help people plan and give them choices such as having a genetic test, considering options for starting a family (including techniques to prevent passing on the gene change), and in some cases, taking part in clinical trials which target specific gene changes and try to stop or slow the disease. These choices are only available when people are aware of a gene in their family or the possibility of being ‘at risk’. From research we have done, we know that families find it hard to talk about MND, and in some cases they avoid having these discussions or sharing important information, including genetic test results. Healthcare professionals are not always confident in talking about genetics and genetic testing and lack resources or leaflets to help them have these conversations. Because of this, we want to carry out research to better understand the experiences of people with MND, their family members, and healthcare professionals, and learn about their views on information sharing and what support they need when communicating about genetics and genetic testing. We will use what we learn to make web-based tools that can help families have discussions and share the necessary information with the right people. In the final part of our project, we will ask for feedback to check the tools meet the needs of the people who will be using them, and use their suggestions to help make them better. Throughout our research, we will invite a group of people with expertise in this area to work with us on the project (including people living with MND and their relatives, healthcare professionals, and researchers). We will work together on developing initial ideas through to sharing what we found. We will share our findings and the tools we produce with families affected by MND, healthcare professionals, and MND charities, to make sure they are available to as many people as possible. This will help families to have good and supportive discussions around genetics, including sharing genetic test results and information about genetic risk with those who could benefit from knowing.