A patient decision aid for genetic testing in motor neuron disease
Research type
Research Study
Full title
Developing a patient decision aid for genetic testing in motor neuron disease (MND)
IRAS ID
311478
Contact name
Alisdair McNeill
Contact email
Sponsor organisation
Sheffield Teaching Hospitals NHS Foundation Trust
Duration of Study in the UK
3 years, 0 months, 1 days
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 underutilisation of genetic testing in MND. We will develop a research-informed patient decision aid (PDA) 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 PDA into practice. A PDA to support genetic testing in MND will be designed based on our study findings. The PDA will be co-designed using an iterative process of testing, refinement and observation. Integration of the PDA into clinical practice will be supported by a strong dissemination plan, including online training sessions in PDA usage for patients and clinicians.
REC name
South West - Cornwall & Plymouth Research Ethics Committee
REC reference
22/SW/0047
Date of REC Opinion
12 Apr 2022
REC opinion
Further Information Favourable Opinion