Overview

Pharmacogenomics (PGx) is the study of how genetic variation affects a patient’s response to drugs. There are some key gene-drug associations that have clinical guidelines and for which genetic tests have been implemented in clinical practice (PharmGKB/CPIC link). However, many challenges remain in our ability to fully understand the full extent of genetic effects across the human genome on drug responses and to be able to translate this into clinical practice. These include difficulty in calling complex variants, such as copy number variation (CNVs) from whole genome or exome sequencing (WGS/WES), the limited study of PGx in diverse ancestries beyond Europeans (ref), and the challenge of extracting useful signals from electronic medical and prescription records enabling linkage to genetics. 

We would like to address these challenges by developing methods to make new discoveries that we hope will translate to making treatments more effective and safer for patients.

Project proposal

We are interested in large scale analysis of genetic variation in sequencing data, including the impact of CNVs, in diverse populations available through human Biobanks (such as UKBioBank), combined with electronic health record and prescribing data to provide a comprehensive picture of the impact of genetic variation on drug efficacy, resistance and side effects using real world data.

This project would involve applying and developing methods for accurate CNV and pharmacogenetic allele analysis in WGS/WES data, linking this to electronic health record and prescribing data, developing methods to identify associations between genetic variation and patient clinical phenotypes such as drug responsiveness, resistance, dosing and adverse drug reactions. We are interested in examining variation across ancestries and identifying novel variants of importance in non-European ancestry that could be translated into clinical practice for more equitable care. We are also interested in producing open source pipelines and analysis code that could help in the translation of pharmacogenetics into the clinic.

Find out more:

Interested in finding out more about the pharmacogenomics project? Do you want to join our researchers? Get in touch, we would love to hear from you!