Twenty-five years after the draft of the human genome sequence, genomics has revolutionized many areas of biology, the diagnosis of familial and early-onset diseases, and the development of targeted therapies, particularly in oncology. Genomic knowledge has had little effect on the diagnosis and treatment of most common adult-onset conditions. Genome-wide association studies have revealed that for these conditions, thousands of genetic variants of small effect underpin the polygenic nature of risk. When incorporated into polygenic risk scores, these variants predict risk (seen in figure); however, polygenic risk scores have had little effect in the clinic.

Read more about the reasons for the slow pace of the diffusion of these methods in clinical practice and the ways they may be useful for the prevention and treatment of common diseases: https://nej.md/4Amwv0F