There is increasing interest in using genetic data in conjunction with health records to open up new possibilities for research. We are working on a proof of concept project addressing the practical issues in combining genetic data with routinely collected healthcare records in a data safe haven. We are linking VCF files from whole exome sequencing data from consented individuals within the Swansea Neurology Biobanks with data in the Secure Anonymised Information Linkage (SAIL) databank at Swansea University.
We’re developing reproducible mechanisms to act as pathfinders for others seeking to do similar work. In our initial exploratory analysis, we are analysing the effect of genetic variants on real-world outcomes for people with epilepsy, such as hospital admissions and multiple medications. As we progress with the work, we will be happy to share our experiences of linking genetic data with other healthcare datasets and would welcome discussions for further collaborative work in this area.
For further information, contact the project lead Professor Kerina Jones: email@example.com