How can we address the uncertainties regarding the potential clinical utility of polygenic score-based tests?

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.

The risk of developing many common diseases, such as heart disease is influenced by both genetic and lifestyle factors. Polygenic scores (PGS) are one way of assessing an individual's risk of developing certain diseases. There is still uncertainty as to whether and how to use PGS for individual care. Much of this is because it is unclear as to whether tests that give a PGS can provide useful information for the care of individuals and patients as part of prevention or healthcare pathways. In this paper, we describe some of the challenges that need to be addressed, so that we can move forward and better understand when and how to use these tests for population and individual benefit.