Developing a patient decision aid for genetic testing in MND

Developing a patient decision aid for genetic testing in MND

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Last month we hosted the second MND EnCouRage UK event for early career researchers (ECRs) which aims to support them to continue working in the field of MND. The event included lots of talks and workshops from senior researchers to provide tips and advice on moving forward in their careers and help them to develop new skills in areas like presenting their work to non-scientific audiences. We also challenged the ECRs to write a blog to explain their research to the MND community. This guest blog is from Jade Howard, one of the ECRs who came to the event this year.

A photo of Jade speaking at a lecturn

My name is Jade and I am a postdoctoral researcher at the Sheffield Institute for Translational Neuroscience, (SITraN) University of Sheffield. Before I moved to Sheffield, I did a PhD at the University of Aberdeen which involved exploring the issues and decisions faced by families affected by inherited MND.

Over my PhD, I was surprised by how little research there had been on the experiences of families affected by MND, particularly inherited forms of the disease, and by the limited dedicated support available. Because of this, I was keen to stay involved in MND research. Our new project, led by Dr Alisdair McNeill, aims to develop an interactive resource called a patient decision aid to support people with MND and family members in making informed decisions around genetic testing. Patient decision aids present key information about two or more choices and help people think through their own preferences, values and what’s important to them in making the decision.

Genetic testing is available to people with MND and can help them understand the cause of their disease. If a particular gene change is identified, people may be eligible for clinical trials, and if they have a change in a gene called SOD1, they might be able to access a new treatment called Tofersen. Genetic testing also provides information about whether relatives, such as children and siblings, might have an increased chance of developing the disease. Where there is a known gene change linked to MND in the family, some relatives may be able to have predictive or pre-symptomatic genetic testing to find out if they have inherited the faulty gene. Both of these tests are done before someone develops symptoms of MND. In all cases, genetic testing is a complex decision and there are many considerations involved, for both the individual and the wider family. It is therefore important that people are well informed and supported over the process so that they can make the choice that is right for them.

We are currently in the early phases of the project, and are carrying out research to make sure the decision aid we design reflects the needs of the people who will be using it. This involves three different studies:

  • A survey to assess clinician views on MND genetic testing, confidence in carrying it out, and training priorities.
  • Interviews with people with MND and family members looking at experiences, decision-making and information/ support needs around genetic testing.
  • Observations of consultations in neurology and genetics clinics to better understand how genetics and genetic testing is discussed with people with MND and families, and how they talk about these aspects.

Findings from the survey suggest that clinicians face several barriers in providing genetic testing, including limited time to discuss testing, issues with the testing process (around paperwork and timescale to get results), as well as lack of training. Some felt more confident than others in their knowledge on genetics in MND and in the genetic counselling skills needed to discuss and carry out genetic testing. Clinicians could benefit from additional training in these aspects, particularly those who had not had specialist training in genetic counselling before.

The interview and observation studies are currently underway. Early interviews suggest that people have differing attitudes towards genetic testing, and there are many factors and motivations in the decision. People described a range of experiences. Whilst some felt they had all the information and support they needed in making the decision and going through the process, others had unmet needs and unanswered questions.

The next phases of the project will involve bringing together the findings from the three studies and developing the decision aid. We are also looking at what resources are available currently to inform what we produce. We will then test and refine the decision aid by carrying out additional studies with people with MND, family members, and healthcare professionals, to see what they think of our prototype and how it could be improved.

The project is being supported by a steering committee who are advising us on aspects of the research. The steering committee includes people with lived experience of MND, a representative from the MND Association, and other clinicians and researchers, all of whom bring their own knowledge, perspectives and expertise.

Genetic testing is a very timely topic. Changes to guidelines over who is eligible for genetic testing after a diagnosis of MND, and developments in clinical trials targeting particular genetic forms of the disease, have led to suggestions that there will be an increased demand for genetic testing, both for people with MND and for family members. We hope our project will help people with MND and relatives make reasoned choices around whether to have genetic testing.

We would like to thank Jade for taking the time to write this guest blog about her work and also thank everyone who was involved in making MND EnCouRage UK 2023 such a success.

If you have been diagnosed with MND, have considered genetic testing, and would be interested in taking part in an interview, please see this webpage to find out more.

This project is led by Dr Alisdair McNeill, Professor Chris McDermott (both University of Sheffield), and Professor Hilary Bekker (University of Leeds). It is funded by the MND Association. The MND Association also provided funding for the development of a resource on inherited MND on the website, based on the PhD  interview study.

We would like to thank all of the MND Association Branches and Groups who have helped to support this project.

The MND Association’s vision is a world free from MND. Realising this vision means investing more in research, further developing partnerships with the research community, funding bodies and industry, while ensuring that advances in understanding and treating MND are communicated as quickly and effectively as possible. Our Research Development team, composed of 11 members, work hard to achieve this. Principally, the Research Information team within this are involved in communication activities including this MND Research blog.