How can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests?
Sowmiya Moorthie, Alison Hall, Chantal Babb de Villiers, Joanna Janus, Tanya Brigden, Laura Blackburn, Mark Kroese
Abstract
As common low penetrance variants associated with diseases are uncovered, attempts continue to be made to harness this knowledge for improving healthcare. Polygenic scores have been developed as the mechanism by which knowledge of common variants can be used to investigate genetic contributions to disease risk. They serve as a biomarker to provide an estimate of the genetic liability for a particular disease. Discussion continues as to whether polygenic scores are a useful biomarker and their readiness for incorporation into clinical and public health practice. In this paper, we investigate the key challenges that need to be addressed, in the description and assessment of the clinical utility of polygenic score-based tests for use in clinical and public health practice.