Developing a guideline for predictive genetic testing in motor neuron disease (MND)

Details

Motor neuron disease (MND) is an incurable neurological condition which causes weakness, swallowing difficulties and shortness of breath. In some people with MND (around 20%) there is a change in a gene that causes the MND. This gene change, can pass from parent to child, so that there is a ½ chance of a person with MND having a child who also has MND. Some people who have a relative with a genetic form of MND want to have a genetic test to find out if they have inherited the gene, and so have a chance of developing MND. This is called predictive genetic testing. In this project the student will develop a research informed guideline for predictive genetic testing in MND. 

The student will undertake a systematic review of the literature to identify aspects of best practice for predictive testing for other neurogenetic conditions. The student will receive full training and support to undertake the review following PRISMA methodology. 

The student will interview relatives of people with MND to understand how they would want to have predictive genetic testing offered to them. Interviews will be audio recorded, transcribed and analysed using thematic analysis. 

The student will undertake an online survey of clinicians who offer predictive genetic testing for MND genes and other neurogenetic disorders. This survey will assess how testing is currently offered and what clinicians think would constitute best practice for MND predictive testing. 

The findings will be used to write a “draft” predictive testing guideline. The guideline would specify how many clinic consultations should be taken for predictive testing, what information to provide the person with pre-testing and post-test support. This will then be redrafted using a modified delphi technique with respondents from clinical genetics and neurology clinicians. The final guideline will be published in a peer reviewed journal. 

Entry Requirements:

Candidates must have a first or upper second class honors degree or significant research experience. (add any additional requirements here)

How to apply:

Please complete a University Postgraduate Research Application form available here: www.shef.ac.uk/postgraduate/research/apply

Please clearly state the prospective main supervisor in the respective box and select ‘School of Medicine & Population Health: Neuroscience’ as the department.

Enquiries:

Interested candidates should in the first instance contact – Dr Alisdair McNeill [email protected]

Proposed start date: October 2024