Genetics of Human Infertility: Expanding Demand for Reproductive Genomic Testing
This Science review covers the genetic basis of human infertility across gamete production, meiosis, and embryo development, highlighting variants in hundreds of genes that affect reproductive function. For genetics laboratories, the expanding catalogue of infertility-associated variants drives demand for comprehensive gene panel testing, whole-exome sequencing, and chromosomal microarray in both male and female infertility workups. The review advocates for precision diagnostics to enable personalised treatment selection in reproductive medicine.
The original study
Understanding the genetics of human infertility.
- Authors
- Sang Q, Ray PF, Wang L
- Journal
- Science (New York, N.Y.)
- Type
- Journal Article, Review
- PMID
- 37053320
Original abstract
Reproduction involves a wide range of biological processes, including organ formation and development, neuroendocrine regulation, hormone production, and meiosis and mitosis. Infertility, the failure of reproduction, has become a major issue for human reproductive health and affects up to one in seven couples worldwide. Here, we review various aspects of human infertility, including etiology, mechanisms, and treatments, with a particular emphasis on genetics. We focus on gamete production and gamete quality, which is the core of successful reproduction. We also discuss future research opportunities and challenges to further expand our understanding of human infertility and improve patient care by providing precision diagnosis and personalized treatments.