Preconception genome medicine: current state and future perspectives to improve infertility diagnosis and reproductive and health outcomes based on individual genomic data.

Human Reproduction Update
A CapalboC Simon

Abstract

Our genetic code is now readable, writable and hackable. The recent escalation of genome-wide sequencing (GS) applications in population diagnostics will not only enable the assessment of risks of transmitting well-defined monogenic disorders at preconceptional stages (i.e. carrier screening), but also facilitate identification of multifactorial genetic predispositions to sub-lethal pathologies, including those affecting reproductive fitness. Through GS, the acquisition and curation of reproductive-related findings will warrant the expansion of genetic assessment to new areas of genomic prediction of reproductive phenotypes, pharmacogenomics and molecular embryology, further boosting our knowledge and therapeutic tools for treating infertility and improving women's health. In this article, we review current knowledge and potential development of preconception genome analysis aimed at detecting reproductive and individual health risks (recessive genetic disease and medically actionable secondary findings) as well as anticipating specific reproductive outcomes, particularly in the context of IVF. The extension of reproductive genetic risk assessment to the general population and IVF couples will lead to the identification of coup...Continue Reading

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Citations

Jan 29, 2021·Molecular Reproduction and Development·Zhibing Zhang
Apr 4, 2021·International Journal of Molecular Sciences·Francesca CioppiCsilla Krausz
Jun 22, 2021·Fertility and Sterility·Alison CampbellCarlos Simon
Sep 25, 2021·Expert Review of Molecular Diagnostics·Mohammad KarimianMohaddeseh Behjati

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