Conceptual Design of Polygenic Risk Score Web Portal

The paradigm of polygenic risk score (PRS) has recently been getting much wider attention. PRS is a mathematical aggregate reflection of the risk conferred by deoxyribonucleic acid (DNA) variations to estimate the susceptibility of people to some certain onset of diseases. It is enumerated by summing risk alleles which are weighted by effect sizes in a large population derived from genome-wide association study (GWAS) where the gene variations are reproducible in different sets of GWAS. The emerging of direct-to-consumer genetics testing has tremendously increased access to genetics testing for broader users. The result of this genetics testing can be used as a disease predictive tool. One of the applications is PRS. PRS is a mathematical aggregate reflection of the risk conferred by DNA variations to estimate the susceptibility of people to some certain onset of diseases. However, the accessibility of these heavy statistics and mathematical models is limited to certain groups such as physicians and researchers. The objective of this study is to propose a conceptual design of web based PRS calculation available for public users. The users can maximize the utilization of their genotype data as a predictive tool for various disease risks. The design presented in this paper including the proposed class diagram, use case diagram, user journey diagram, and a series of user interface mock-ups. This result can be used as a prototype to gain users’ feedback before implementing in production stage.