Development of the World’s First Non-Invasive, Pre-Implantation Genetic Test (PGT-M) for Genetic Disorders in Embryos

遗传疾病导致人口的发病率和死亡率很高，早期发现是改善结果和减少受影响个人及其家庭痛苦的关键。目前，有可能将严重遗传疾病传染给子女的夫妇可以选择接受试管婴儿和测试他们的胚胎（使用侵入性活检方法），以防止受影响儿童的出生。然而，严重缺乏成本效益高、可获得的方法，特别是缺乏非侵入性的胚胎遗传疾病检测方法。此外，COVID-19大流行进一步影响了现有检测方法的挑战，因为IVF诊所关闭和NHS的资源重新部署。Igenomix由Alan Thornhill教授（与技术，科学和创业专家Seema Dhanjal，Darren Griffin，Alan Handyside和Roy Naja一起工作）在英国领导，旨在提供一种非侵入性测试来诊断人类胚胎中的遗传疾病（ni-PGT-M）。这项测试将提供一个创新的、具有成本效益的和可持续的解决方案，将大大改善有遗传疾病传播风险的夫妇的结果。

Genetic disease results in significant morbidity and mortality in the population and early detection is key to improving outcomes and reducing suffering for affected individuals and their families. Couples at risk of transmitting serious genetic disorders to their children currently have the option of undergoing IVF and testing their embryos (using an invasive biopsy method) to prevent the birth of affected children. However, there is a significant lack of cost-effective, accessible and, specifically, an absence of non-invasive embryonic genetic disease detection methods. In addition, the COVID-19 pandemic has further impacted the existing challenges for current detection methods because of IVF clinic closures and redeployment of resources in the NHS. Igenomix, led in the UK by Professor Alan Thornhill (working alongside technical, scientific and entrepreneurial experts Seema Dhanjal, Darren Griffin, Alan Handyside and Roy Naja) aims to provide a non-invasive test to diagnose genetic disease in human embryos (ni-PGT-M). This test will provide an innovative, cost-effective and sustainable solution that will significantly improve the outcomes for couples at risk of transmitting genetic disease.