Utilising data linkage to investigate the health impact of carrier status for common genetic disorders

Many genetic conditions are inherited in an ‘autosomal recessive’ (AR) manner. A person is affected by an AR condition when they inherit two changed copies of a gene. Individuals who only have one gene change are called ‘carriers’. Carriers are usually unaffected by the inherited condition; however, being a carrier could still sometimes affect a person’s health. Almost everyone in the population is a carrier for at least one AR gene change. 

In this PhD project the student will study the health effects of an AR condition called cystic fibrosis (CF). CF causes severe lung and digestive problems in people who have two CF gene changes. Around 4% of the UK population are carriers of one CF gene change. This project asks if being a carrier for CF can affect an individual's health. 

The NHS All Wales Medical Genomics Service (AWMGS) performs around 300 CF carrier tests a year. The student will work with AWMGS to access the last 20 years of archived results for patients having CF gene testing. The archived results include data for around 1,000 CF carriers.  

The CF gene test results will be securely submitted to the SAIL databank. SAIL is a large collection of health data from the Welsh population that can be accessed for research following a rigorous approval process. SAIL has strict rules to protect the confidentiality of individuals. 

Using the SAIL databank, the student will explore the relationship between CF carrier status and health problems including known CF-related symptoms (e.g., sinusitis, asthma, digestion problems). The analysis will be extended to look at new health consequences such as susceptibility to other infectious diseases (e.g., COVID-19 infection). The project will improve our ability to use routinely collected NHS genetic data for health research.