A patient decision aid for genetic testing in motor neuron disease

UK Chief Investigator

Dr Alisdair McNeill

Research summary

Genetic variants play a major role in MND, in our recent study 21% of MND patients had a causal genetic variant. A genetic diagnosis for MND has clinical benefits; it permits access to reproductive medicine options, helps relatives understand their risk of inheriting MND and allows recruitment to personalised medicine trials. Our scoping review identified evidence of under-utilisation of genetic testing in MND. We will develop a research-informed patient decision aid to support people with MND, and their families, make choices about genetic testing. We will undertake detailed interviews with MND patients, and their first degree relatives, to understand their views on genetic testing for MND and support needs when considering testing. A series of clinic consultations in which genetic testing is discussed with MND patients will be analysed, along with a cross-sectional survey of clinicians. This will gather information on how clinicians currently offer MND genetic testing and how they might integrate a patient decision aid into practice. A patient decision aid to support genetic testing in MND will be designed based on our study findings. The patient decision aid will be co-designed using an iterative process of testing, refinement and observation. Integration of the patient decision aid into clinical practice will be supported by a strong dissemination plan, including online training sessions in patient decision aid usage for patients and clinicians.

Current status

Active – recruiting

Key dates

Actual opening date: 9th December 2022

Planned recruitment end date: 31 October 2025

Recruitment groups

Patients with MND
Family members of people with MND or FTD
Clinicians working with MND patients

Recruitment target

348 participants

Click here to see how many participants have been recruited into this study to date (external link to the NIHR public study search)

Locations

Sheffield (Principal Investigator: Alisdair McNeill)
London - University College Hospital (Principal Investigator: Petro Fratta)
London - St George's Hospital (Principal Investigator: Nayana Lahiri)

Information about study sites

Contact details

Email Jade Howard jade.howard@sheffield.ac.uk or Alisdair McNeill a.mcneill@sheffield.ac.uk

Inclusion / exclusion criteria

Inclusion criteria

Between the ages of 18 and 99 years, inclusive
Able to provide informed consent
Has confirmed diagnosis of MND
Is a blood relative of a person with confirmed MND
Is a clinician working with MND patients
Able to communicate sufficiently to undertake an interview or complete a questionnaire survey

Exclusion criteria

Age < 18 years

Significant cognitive impairment that would render participant unable to respond in a meaningful way in interviews or recorded consultations
Significant communication difficulties which would make participation impossible.

Funder

MND Association

Sponsor

Sheffield Teaching Hospitals NHS Foundation Trust

Study design

Observational

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