Responsible use of polygenic risk scores in the clinic: potential benefits, risks and gaps

Nat Med. 2021 Nov;27(11):1876-1884. doi: 10.1038/s41591-021-01549-6. Epub 2021 Nov 15.

Abstract

Polygenic risk scores (PRSs) aggregate the many small effects of alleles across the human genome to estimate the risk of a disease or disease-related trait for an individual. The potential benefits of PRSs include cost-effective enhancement of primary disease prevention, more refined diagnoses and improved precision when prescribing medicines. However, these must be weighed against the potential risks, such as uncertainties and biases in PRS performance, as well as potential misunderstanding and misuse of these within medical practice and in wider society. By addressing key issues including gaps in best practices, risk communication and regulatory frameworks, PRSs can be used responsibly to improve human health. Here, the International Common Disease Alliance's PRS Task Force, a multidisciplinary group comprising expertise in genetics, law, ethics, behavioral science and more, highlights recent research to provide a comprehensive summary of the state of polygenic score research, as well as the needs and challenges as PRSs move closer to widespread use in the clinic.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alleles
  • Data Collection
  • Disease Progression
  • Genetic Predisposition to Disease / genetics*
  • Genome, Human / genetics*
  • Humans
  • Multifactorial Inheritance / genetics*
  • Phenotype
  • Recurrence
  • Risk Factors*