Investigating equity and outcomes of genetic testing in Wales, v1.0
Research type
Research Study
Full title
Data linkage to understand the factors influencing equity and outcomes of genetic testing across the Welsh population
IRAS ID
338592
Contact name
Andrew Fry
Contact email
Sponsor organisation
Cardiff University
Duration of Study in the UK
1 years, 5 months, 31 days
Research summary
The All Wales Medical Genomics Service (AWMGS) has been performing genetic testing as a routine part of NHS patient care for over 30 years. Today, AWMGS delivers a wide range of genetic and genomic tests for thousands of patients every year. AWMGS has collected a large archive of genetic data from the Welsh population. This data has enormous potential for health research, but requires extensive curation to be suitable for import to anonymised environments.
To facilitate the use of archived NHS genetic data for research while protecting patient privacy, we propose to curate the data, anonymise it, and submit it to the Secure Anonymised Information Linkage (SAIL) Databank. We piloted this approach in a REC-approved project (IRAS 319652) in which we curated NHS cystic fibrosis gene test records and submitted them to SAIL. SAIL is a databank of anonymised data about the population of Wales combined with tools for data linkage and epidemiological analysis.
To extend our research using NHS genetic data we propose to curate genetic testing records for a wider range of genetic conditions and submit them to SAIL. The linked data will then be used to answer questions about the geographic distribution of testing (useful for understanding if some people may be missing out on better test availability), how common these disease-associated genetic variants are in the population (useful for genetic counselling by the NHS) and study the health consequences of these genetic variants in more detail (providing information to improve the care of future patients).
REC name
Wales REC 3
REC reference
24/WA/0182
Date of REC Opinion
14 Jun 2024
REC opinion
Favourable Opinion