Title: Clinical Applied Genetics in the Age of the Polygenic Risk Score.

Abstract:

Personal genetic testing is rapidly growing in popularity, with more than 10 million individuals using direct-to-consumer (DTC) services in 2018 (1). Most current DTC focus on ancestry research. Meanwhile, clinical genetics may soon expand from focusing on rare high-effect SNPs towards the use of polygenic risk scores (PRS) for common diseases (2), a metric also derivable from DTC data. Realising these obvious benefits, however, poses fundamental challenges on how to handle continuously arriving heterogeneous genetic data while providing useful and relevant analysis. The impute.me project presents a solution towards leveraging diverse data sources, towards maintaining PRS-robustness, and most importantly - towards timely presentation of relevant findings. In anticipation of increasingly solid PRS algorithms, presentation and balancing of relevance is likely to become a central question. We therefore believe this work can serve as a starting point on how to use PRS in general clinical decision making.

1.     [PMID 30124172]        

2.     [PMID 30104762]