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With the exponential growth of genomic data and analysis techniques we are seeing huge breakthroughs in use of polygenic risk scores to predict genetic risk of many common diseases, such as cancer, heart disease and diabetes. The study of genetic risk for common diseases is complex, as many genetic and environmental variants affect the disease risk. But following the success of genome-wide association studies (GWAS) in identifying the causal variants associated with the disease, polygenic risk scores (PRS) provide a way of aggregating all the variants carried by an individual into a single risk score.
There is huge potential for genomics to improve effectiveness and lower costs in healthcare. The reduction in sequencing costs and the availability of tools to securely store, process, and analyse large-scale data is accelerating research in genomics, and fueling progress. One area within this field with the fastest growth and greatest potential is the incorporation of genetic testing into clinical trials.