Lasse Folkersen & Thomas Werge:
Genomic medicine as consumer goods
Ugeskr Læger 2019;181:V11180789
In this review, current trends in personal genetics are covered. The main differences between the “classic” rare high-effect mutations vs. the combined effects of thousands of common, low-risk variants are outlined, and then we provide examples of possible clinical use of microarray-based genetic measurements of rare high-risk mutations, and diagnosis-specific polygenic risk scores. The aim of this review is to discuss the possible clinical relevance vs. the hyped and potentially harmful overinterpretations of direct-to-consumer genetics services.