Decisions about genetic testing for those living with MND

Genetic testing is available to all people with motor neuron disease (MND) in England. It can tell them if their MND is caused by a change in a known gene, which could be passed down in the family. If a gene change is found, this can impact what research people can take part in and, in a small number of people, what treatment they may be offered. It can also have impacts for family members, who may be able to have predictive or reproductive genetic testing. This study aimed to explore the needs of people with MND around genetic testing.

Why is the study important?

Genetic testing is a personal decision. People should have appropriate information and support when making these decisions so they can make the best decision for them. However, there is little research into the experiences of people with MND around genetic testing, and what information and support they need. Existing research suggests doctors and other healthcare professionals sometimes struggle with offering genetic testing and do not always have the skills and training to discuss it with families and carry it out. This raises the question of whether people have all the information and support they need to make an informed choice around genetic testing.

What did the authors do and how did they do it?

The authors carried out interviews with 14 people with MND from across the UK. Some people had had genetic testing and some people had not. They asked people about their experiences of making decisions around genetic testing, and what information and support people needed when making these decisions. They analysed the interviews by generating themes, or patterns, across interviews.

People in the study described different experiences of genetic testing. Some people had not had genetic testing and did not have much information about what it involved. These people had different approaches to how much they wanted to know about genetics in MND and genetic testing. Others had had genetic testing. Some people in this situation described positive experiences where they were given useful information by their healthcare professionals, before making a decision. Others had been given very little information and had not fully understood what they were being tested for or what it meant for them and their family. People sometimes had unanswered questions, even after being told their result. Not everyone had received the support they needed when having genetic testing and after being given their test result.

People had different reasons for having genetic testing or not. Some people who had had testing wanted to contribute to knowledge on MND, or find out more about the cause of their own symptoms. People also wanted to find out their options for taking part in research or receiving a specific treatment. People sometimes felt the information would be useful for their family members, to help them plan and make their own decisions.

There were also a range of reasons for not having genetic testing. Some people felt concerned about how their family members would feel, and did not want to know if their relatives could have a higher chance of getting MND too. People worried about financial implications, including on insurance. Not everyone thought information from genetic testing would be useful, due to their circumstances or because of the lack of treatments for MND.

People in the study felt that anyone considering genetic testing should be given clear and reliable information on the genetic testing process. People should be told about the genes involved in MND and how they can be passed down in families. They should also be told about the link between MND and other conditions, which could be hard to understand. People should have all the genetic testing options explained to them, and be told about the possible outcomes of testing and what each result means for that individual and the wider family. Having information on how genetic testing could lead to people being offered treatments, or the chance to take part in clinical trials, was also important. People wanted information to share with their family members. Being able to get in touch with healthcare professionals was also important, to ask questions.

People in the study thought everyone with MND should have the chance to make their own decision about genetic testing. The best time to discuss genetic testing depends on the individual, but it is important that it is discussed by a knowledgeable healthcare professional with whom they have a trusting relationship.

What do the findings mean going forward for people with the disease?

The researchers have used findings from this study to develop resources called ‘patient decision aids’. The decision aids are available to people with MND and their family members. They help people understand their options around genetic testing and the consequences, and think about what matters most to them.

This study can be found at
https://www.tandfonline.com/doi/full/10.1080/21678421.2025.2469727

Paper title
Exploring the needs and preferences of people with amyotrophic lateral sclerosis (ALS) when making genomic testing decisions: an interview study

Lead author
Alisdair McNeill

Publication details including date of publication
Research article published online in the journal ‘Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration’, February 2025