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Approved research

Building polygenic risk scores for common complex traits in populations with varying ancestry background

Principal Investigator: Dr Kirsi Auro
Approved Research ID: 52860
Approval date: December 11th 2019

Lay summary

Clinical genetics focuses currently largely to rare genetic syndromes and rare high-risk genetic variants. Novel approaches enable more extensive utilization of genome-wide tools in personalized medicine. These tools could enhance disease risk prediction and preventive patient cascades. Negen is a commercial company building genetic risk evaluation tools for health care and private consumers. The aim of this research project is to build, test and validate polygenic risk scores (PRS) for various common traits in UK Biobank data. These PRS combine information on genetic and environmental risk factors. The aim is to build PRS at least for the following diseases/traits: coronary heart disease, diabetes types 1 and 2, ischemic stroke, inflammatory bowel disease, asthma, COPD, osteoarthritis, rheumatoid arthritis, breast cancer, colon cancer, prostate cancer, atrial fibrillation, dyslipidemias, deep vein thrombosis and dementias. Validation of any genetic tool is essential before these tools can be utilized in clinical health care. The aim of this project is to validate all genetic tools across different populations. The duration of the project is 3 years. The validation or novel genetic tools and building the personalized medicine approach has potentially significant public health impact. Implementation of these novel genetic tool in health care may enhance personalized medicine approach, effective risk prediction and treatment, earlier interventions and improved health outcomes.