Solving variant interpretation for good?
Published:
Primary genetic disease
A while ago I heard a researcher from a large genomics company saying in his lecture that they aim to solve the problem of variant interpretation for good. This is quite thought-provoking to me. The idea that we can assign an interpretation in terms of pathogenicity or even being beneficial to genetic variants should be possible, but only for a small portion of them. We know some diseases are almost completely caused by one or a few pathogenic variants. If we can characterize all these pathogenic variants, it greatly helps timley diagnosis and helps the pursuit of finding treatments for many of these rare diseases. But for many other diseases, genetic variants seem to only increase/decrease susceptibility. Genetic variants seems to orchestrate a downstream effect in interaction with each other and the environment. Therefore assigning labels to individual variants seems to be uninformative for many diseases. The idea of building polygenic risk scores comes from the same argument