Summary
This Science review by Sang, Ray and Wang examines the genetic architecture and biological mechanisms of human infertility, with particular emphasis on gamete production and gamete quality as critical determinants of reproductive success. The authors synthesise knowledge of the etiology and pathophysiology of infertility across multiple biological systems and highlight the role of precision genomics in enabling personalised diagnosis and treatment. The paper positions genetics as central to improving clinical outcomes and advancing understanding of why reproduction fails in a substantial proportion of couples globally.
UK applicability
The genetic findings and diagnostic frameworks reviewed are relevant to UK reproductive medicine and fertility services, which increasingly adopt genomic approaches for patient stratification. However, the review's applicability to UK practice depends on accessibility of genetic testing and personalised treatment within NHS funding and regulatory frameworks.
Key measures
Genetic variants associated with infertility; mechanisms of reproductive failure; prevalence (affecting up to one in seven couples worldwide)
Outcomes reported
The review synthesises current understanding of the genetic and biological mechanisms underlying human infertility, encompassing organ development, neuroendocrine regulation, hormone production, and gamete quality. It identifies research opportunities and challenges for advancing precision diagnosis and personalised treatment approaches in reproductive medicine.
Topic tags
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