Polygenic scores and clinical utility

Our report unpicks the complexities of assessing the clinical utility of polygenic scores


Opinions differ as to the value of genetic information in the form of polygenic scores and the usefulness of polygenic score analysis as part of routine healthcare - clinical utility.

Views on clinical utility are driven by different factors, including how different people define it and link this with the health test under consideration. Decisions on clinical utility will affect whether polygenic score analysis is used for routine testing of common diseases. Thinking about clinical utility can also help us identify of the best way to use the information from polygenic scores.

We have worked with stakeholders to bring together key concepts around clinical utility and used our expertise on genetic test evaluation and regulation to consider how to better assess the potential utility of polygenic scores in healthcare.

The resulting report, Polygenic scores and clinical utility, provides comprehensive background and analysis which aims to support efficient decision-making around the implementation of polygenic scores into health services. The report will be of value to a broad group of people, from developers of polygenic scores to those considering implementation and use.

By Sowmiya Moorthie, Alison Hall, Joanna Janus, Tanya Brigden, Chantal Babb de Villiers, Laura Blackburn, Emma Johnson and Mark Kroese

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