Impact of unexpected genetic results in diabetes
Research type
Research Study
Full title
Understanding the impact of unexpected genetic results in individuals with diabetes
IRAS ID
255328
Contact name
Alison Kerridge
Contact email
Sponsor organisation
Royal Devon and Exeter NHS Foundation Trust
Duration of Study in the UK
2 years, 0 months, 1 days
Research summary
Changes in single genes cause diabetes in 3% of those diagnosed <30 years of age. Over 30 different genes are known to cause rare forms of monogenic (single gene) diabetes. Identifying the genetic cause is helpful as it aids treatment and management. Changes in single genes cause ‘diabetes alone’ or ‘diabetes plus other features’ with numerous organs potentially affected (dependent on the gene involved) e.g. kidneys, urogenital tract, heart, brain or affect vision or hearing.
Advances in technology mean we can now test for changes in all genes causing monogenic diabetes in ‘one go’. This reduces the time and expense and increases the chances of identifying a genetic cause. However since introducing this new test a genetic cause has been identified in some individuals which was ‘unexpected’ as the person was thought to have ‘diabetes alone’ but the gene involved is known to affect other organs. This can impact on the individual’s health (indicating a need for additional health screening) and has implications for their children (as these conditions are dominantly inherited). There are no studies that have considered the psychosocial impact of an ‘unexpected’ genetic diagnosis.
We aim to understand the psychosocial impact of receiving an ‘unexpected’ genetic result through in-depth interviews with these individuals, their close family members and the healthcare professionals involved in their care. Individuals receiving ‘unexpected’ results will be identified through the clinical molecular genetics team at the Royal Devon and Exeter NHS Foundation Trust who are the UK centre for genetic testing in monogenic diabetes. These interviews will be recorded, last approximately 1 hour and will be conducted at a time and place to suit participants. Qualitative thematic content analysis will identify the psychosocial issues considered important and identify the best way of providing these patients and their families with appropriate support and information.REC name
West Midlands - Black Country Research Ethics Committee
REC reference
19/WM/0208
Date of REC Opinion
28 Aug 2019
REC opinion
Further Information Favourable Opinion