Data linkage to investigate impacts of genetic carrier status v1.0
Research type
Research Study
Full title
Utilising data linkage to investigate the health impact of carrier status for common genetic disorders
IRAS ID
319652
Contact name
Andrew Fry
Contact email
Sponsor organisation
Cardiff University
Clinicaltrials.gov Identifier
1443(HD-23192), SAIL Databank Project Reference Number
Duration of Study in the UK
3 years, 0 months, 0 days
Research summary
Cystic fibrosis (CF) is a common life-limiting genetic disease. A person is affected by CF when they inherit two changed copies of the CFTR gene. Individuals with only one changed copy are called 'carriers'. Carriers are usually unaffected by severe disease. However, there is emerging evidence that being a carrier for conditions such as CF may still have health implications that are not well understood. This study aims to examine the health implications for CF carriers in the Welsh population.
In this project we will collect CF genotype data from the All Wales Medical Genomics Service (AWMGS). The CF genotype data is rarely identifiable as most genotypes are common and shared by hundreds or thousands of people in Wales.
The CF genotype data will be pseudo-anonymised and submitted to the Secure Anonymised Information Linkage (SAIL) Databank. In SAIL the CF genotype data will be linked to anonymised health data from the Welsh population. SAIL have in place strict procedures to maintain anonymity and prevent identification of individuals.
Using the combined health and CF genotype data we will characterise which gene changes are common in the Welsh population and analyse if being a carrier for CF predisposes to certain health conditions or reactions to treatment; for example, severe COVID-19 infection. This study will last for 3 years.
All data that will be analysed has already been collected as part of routine care (e.g. NHS genetic testing by AWMGS or GP health records). None of the participants will be identifiable during the analysis or in the results. Therefore, participants will not be approached for individual consent.
The outcomes of the study will be to improve the information available for people having genetic testing and offer a better understanding of the health implications of carrier status for common genetic disorders.
REC name
South West - Central Bristol Research Ethics Committee
REC reference
23/SW/0010
Date of REC Opinion
2 Mar 2023
REC opinion
Further Information Favourable Opinion