Strategies to Identify Genetic Variants Causing Infertility

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.

Automated summary

Genetic factors contribute to about 50% of infertility cases, and modern genomics tools have enabled a more sophisticated exploration of genetic causes. Advanced techniques like genome modulation and editing offer potential for functional testing and clinical correction of infertility variants.