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Approved Research

Pharmacogenomics in diverse populations

Principal Investigator: Dr Emma Magavern
Approved Research ID: 90934
Approval date: November 30th 2022

Lay summary

Aims: To examine how genes may impact a participant's response to medication. Particularly we would like to look at similarities and differences between those from different ethnic groups.

Scientific rationale: Sometimes medication has either an unintended side effect or doesn't work well for a patient. Sometimes this may be due to genetics. Therefore, we might improve medication effectiveness and decrease side effects with genetic information. People from different ethnic backgrounds may have distinct genetic risks for either a bad reaction to a medication or for that medication to fail (to not have the intended therapeutic effect). Because most studies large enough to reliably look at genetic risk associated with these medications are done in people of European heritage there is a risk that science may miss opportunities to decrease risk of giving medications to groups of people with other backgrounds.

Project duration: 3 years

Public health impact: We hope that by examining genetic risk for an unintended consequence of prescription medication in diverse ethnic groups, we can learn more about how genetics impacts on response to medication and promote health equality.

Scope extension:

Hypothesis / Research questions and aims:

  1. To undertake a trans-ancestry study of known Clinical Pharmacogenetics Implementation Consortium pharmacogenomic gene variants for response mode testing, and link with clinical events.
  2. To run genome-wide association studies for common variants, gene burden testing and exomiser to prioritise rare variants, using knowledge based machine learning and bioinformatics to tier potential findings for functional studies.
  3. To integrate genetic data for disease risk stratification in addition to therapeutic response stratification