Establishing an Australian pathway to accreditation and clinical reporting for polygenic scores

Most genetic conditions are not caused by one gene alone. In many cases the chance of developing a condition is influenced by the combined effect of many different variations in the genetic code, often interacting with environmental factors. The cumulative effect of an individual’s genetic variation can be captured a Polygenic Score (PGS). PGS could be used to predict disease risk, inform risk management, and to improve clinical care for many important medical conditions. However, the use of PGS testing is currently very low, representing an opportunity for Australia to progress clinical utilisation of PGS to inform local and international practice.

Led by Prof Paul James (University of Melbourne), this project will address some of the major obstacles to the development and accreditation of clinical PGS in Australian diagnostic laboratories. It will generate national benchmarks for developing, analysing, and reporting PGS results, create requirements for clinical accreditation of genomic tests based on PRS, and produce a range of quality assessment tools for use by laboratories providing PRS testing.