Strategies to Identify Genetic Variants Causing Infertility

Trends Mol Med. 2021 Aug;27(8):792-806. doi: 10.1016/j.molmed.2020.12.008. Epub 2021 Jan 8.

Abstract

Genetic causes are thought to underlie about half of infertility cases, but understanding the genetic bases has been a major challenge. Modern genomics tools allow more sophisticated exploration of genetic causes of infertility through population, family-based, and individual studies. Nevertheless, potential therapies based on genetic diagnostics will be limited until there is certainty regarding the causality of genetic variants identified in an individual. Genome modulation and editing technologies have revolutionized our ability to functionally test such variants, and also provide a potential means for clinical correction of infertility variants. This review addresses strategies being used to identify causative variants of infertility.

Keywords: CRISPR/Cas9 genome editing; genome-wide association study; high-throughput sequencing; infertility; precision medicine; variants of uncertain significance.

Publication types

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

MeSH terms

  • CRISPR-Cas Systems
  • Computational Biology / methods
  • Disease Management
  • Gene Editing / methods
  • Genetic Association Studies / methods*
  • Genetic Predisposition to Disease*
  • Genetic Testing / methods
  • Genetic Variation*
  • Genome-Wide Association Study / methods
  • Genomics / methods
  • High-Throughput Screening Assays
  • Humans
  • Infertility / diagnosis*
  • Infertility / genetics*
  • Infertility / therapy
  • Reproductive Techniques, Assisted