The current trends in preconception genetic testing and other visions for the future were presented by R&D Director of RepromedaLab Mgr. Miroslav Horňák, Ph.D. at the conference XXXIII: Izakovičov memoriál 2023
Preconception genetic testing identifies the carriage of pathogenic variants in genes. These can cause known recessive diseases in the offspring. If reproductive risk is identified in this way, preimplantation genetic testing for monogenic diseases can then be used to prevent transmission to offspring. With the increasing prevalence of panel testing, we are finding that humans can carry up to 7 pathogenic variants. However, the recommendations of the Czech SLG still only apply to IVF patients and gamete donors. In addition, preconception testing is prescribed for only a few population frequent monogenic diseases. However, this approach cannot significantly reduce the general reproductive risk. The results to date, not only from our expanded panel screening, show the undeniable benefit of preconception testing in reducing the risk of having an offspring with a recessively inherited disease.