Lay summary by Jade Howard, reviewed by Dr Scott Allen and a MND lay panel
Background
Motor neuron disease (MND) is a condition that affects how people walk, talk, eat, drink and breathe. In most cases it is not possible to say what causes MND, but in a minority of people it can be linked to a change in a gene. Genes are instructions we inherit from our parents that make our bodies work and grow. When they have these changes or mistakes, this can cause or contribute to particular illnesses – for example, MND. Predictive testing is a technique used to look for a gene change linked to MND in a person who does not have symptoms. If they have this gene change, they have a higher chance of developing MND in their lifetime.
Before having predictive testing in the UK, people must have genetic counselling. Genetic counsellors are health professionals who help people understand what it means to have a genetic condition in the family and make informed decisions, including around predictive testing. This research paper looks at people’s experiences of making decisions around predictive testing and of having genetic counselling.
Why is the study important?
More people are making decisions around predictive testing, which means it is important to understand their experiences of the genetic counselling and predictive testing service, and what information and support they need at this time.
What did the authors do and how did they do it?
The authors interviewed 14 people who had had or considered predictive testing. They asked people about their experiences of making decisions around predictive testing, and what information and support they needed when thinking about testing and having genetic counselling. They analysed the interviews by generating themes, or patterns, across the interviews.
What are the results?
Understanding the Decision: Before deciding about testing, participants wanted clear information about what the test involves, how accurate it is, and what the results could show. Many felt they needed a better explanation of the process, including the timeline. Participants wanted to understand the possible consequences of testing – such as the emotional impacts, implications for insurance, and for future planning, including choices around having a family. Some people who had already undergone testing felt there were gaps in what they had been told beforehand – especially about how results would be presented, what follow-up support would be available, and opportunities to take part in research.
Experiences of genetic counselling: Most participants had two or more genetic counselling appointments before testing. Some felt well supported and appreciated having information clearly explained at the right pace. Others found the process rigid and frustrating, particularly when they had to wait to go ahead with testing and the timelines did not fit with their personal needs.
A number of participants felt they had to “prove” they were ready for testing. Some perceived professionals as discouraging them, especially younger individuals. In addition, some participants felt genetic counselling could be better organised to support families together. Other participants described feeling respected and supported in making a decision aligned with their values.
Making sense of MND and being at risk: Knowledge about MND varied. Participants wanted information about causes, symptoms, disease progression, treatment, and planning for the future. However, detailed descriptions of MND symptoms and life expectancy could be distressing during decision-making.
Understanding genetic risk was not straightforward. Participants sometimes described confusion about concepts such as inheritance, penetrance (the likelihood that carrying a gene will lead to disease), and the overlap between MND and a health condition called frontotemporal dementia (FTD). FTD can cause changes to personality, behaviour and language and is linked to some of the same genes that are linked to MND. Some remembered explanations around their risk in simplified, almost “yes or no” terms, which did not always reflect the uncertainty involved. Even after receiving results, some remained unsure about what their level of risk actually was.
Satisfaction with predictive testing and information needs: People described positive experiences of genetic counselling, and valued receiving personalised communication, clear explanations in plain language, and information delivered at an appropriate pace. People with less positive experiences felt the information was too technical or complex, not comprehensive, or did not focus enough on the emotions involved. Some felt the process did not fit with their personal needs and circumstances. Across interviews, people expressed a clear desire for accessible, tailored information resources, as well as emotional support and opportunities for peer connection.
What do the findings mean going forward for people with the disease?
The authors offer suggestions for those involved in genetic counselling based on the findings of the study. Suggestions include clarifying the role of genetic counsellors and structure of counselling, tailoring information to people’s knowledge and needs, and exploring personal and family experiences of MND as a starting point for offering support. Results from this study have been used to help the researchers develop a patient decision aid, a tool designed to support people to understand their choices around predictive testing and make a decision that is right for them. The decision aid can be found at: https://mymndgenetest.shef.ac.uk/
This study can be found at https://onlinelibrary.wiley.com/doi/10.1002/jgc4.70184
Paper title
Predictive genetic testing in amyotrophic lateral sclerosis (ALS): Experiences of decision-making and engagement with UK genetic counseling services
Lead author
Jade Howard and Alisdair McNeill
Publication details including date of publication
Journal of Genetic Counseling in February 2026.