Short Survey, 2024

Towards fair and clinically relevant polygenic predictions

Trends in Genetics, ISSN 0168-9525, Volume 40, 5, Pages 379-380, 10.1016/j.tig.2024.04.002

Contributors

Vilhjalmsson B.J. 0000-0003-2277-9249 (Corresponding author) [1] [2]

Affiliations

  1. [1] Aarhus University
  2. [NORA names: AU Aarhus University; University; Denmark; Europe, EU; Nordic; OECD];
  3. [2] Broad Institute of MIT and Harvard
  4. [NORA names: United States; America, North; OECD]

Abstract

Lennon et al. recently proposed a clinical polygenic score (PGS) pipeline as part of the Electronic Medical Records and Genomics (eMERGE) network initiative. In this spotlight article we discuss the broader context for the use of PGS in preventive medicine and highlight key limitations and challenges facing their inclusion in prediction models.

Keywords

clinical risk assessment, diverse ancestry, polygenic scores

Funders

  • Lundbeckfonden
  • Novo Nordisk Fonden
  • Independent Research Fund

Data Provider: Elsevier