Motor neurone disease patients' views about genetic testing for MND
Research type
Research Study
Full title
A thematic analysis of the views of amyotrophic lateral sclerosis/motor neurone disease (ALS/MND) patients about genetic testing for ALS/MND.
IRAS ID
236349
Contact name
Laura Boyes
Contact email
Duration of Study in the UK
1 years, 2 months, 1 days
Research summary
An exploration of the views of patients affected by motor neurone disease/amyotrophic lateral sclerosis (MND/ALS) about genetic testing for MND/ALS.
MND/ALS occurs when specialist nerve cells in the brain and spinal cord stop working properly, causing progressively worsening problems with movement leading eventually to full paralysis; however, memory and the ability to think are not affected. Most people are diagnosed in their 40s-60s, and usually die within three years of diagnosis. MND patients can also have frontotemporal dementia (FTD) which causes personality and behaviour changes, and language problems. Multiple causes of MND exist, and the cause is often unclear. Sometimes other family members have had MND or FTD, suggesting a genetic cause, however a genetic cause can be present with no family history. Identifying a genetic cause means family members can be tested for the gene change; they can then consider the options available (e.g. pre-implantation genetic diagnosis) to avoid future children inheriting it. Thus, there is a debate about whether genetic testing should be offered to all MND patients, rather than only those with a family history. It is therefore important that the views of MND patients are understood better to inform guidance on genetic testing and counselling.
Approximately ten semi-structured interviews (lasting 45-90 minutes in participants’ homes) will explore the views of patients affected by MND/ALS about genetic testing for this condition, including how these views are influenced by: their experience of MND/ALS; the multifactorial causes; the limited treatment options; and the possibility of pre-implantation genetic diagnosis. How and when MND patients think testing should be offered will also be explored. The interviews will be analysed using thematic analysis.
Eligible patients will:
• Have a diagnosis of MND/ALS.
• Be under the care of the QEH Birmingham.
• Not have received genetic counselling/testing.
• Be at least one month post diagnosis.REC name
West Midlands - Coventry & Warwickshire Research Ethics Committee
REC reference
18/WM/0057
Date of REC Opinion
16 Apr 2018
REC opinion
Further Information Favourable Opinion