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Approved Research

Using Novel Approaches for Improving Polygenic Risk Score Analysis and Filling in Missing components of Interaction Networks

Principal Investigator: Mrs Keri Multerer
Approved Research ID: 86965
Approval date: August 25th 2022

Lay summary

Polygenic risk scores (prs) are single number indices intended to provide information about additional risk/protection for a specific disease based on variants present in the genome. They  are  crucial for advancing personalized medicine and using in a clinical setting to quantitate risk on an individual level. It is known and accepted that diseases are complex and culminate from a network of environmental and genetic interactions . Current prs are calculated with a simple equation in which risk variants are identified and summed. Our aim is to untangle and include more of the complexity of underlying interactions between genes and between genes and the environment into a more generalized, less biased risk score. This improved methodology will provide more equitable risk assessment for populations who are often at higher risk for certain diseases (such as diabetes), and thus have a substantial health impact for all populations but most notably for underrepresented populations by identifying high risk individuals for earlier intervention. We believe these methodologies can be developed within 3 years.