多基因疾病胚胎植入前遗传学检测的研究进展及挑战

Research progress and challenges of preimplantation genetic testing for polygenic diseases

胚胎植入前遗传学检测是辅助生殖过程中的重要环节,可以阻断单基因或染色体疾病的代际间遗传。其中,多基因疾病胚胎植入前遗传学检测(PGT-P)是该领域的最新进展之一。PGT-P在人工智能和遗传检测技术发展的基础上,通过检测遗传物质,计算多基因风险评分,再将其转化为发病概率,可以筛选得到多基因疾病发病概率相对较低的胚胎进行移植,以期降低子代未来患该疾病的可能,具有显著的临床和社会意义。目前,PGT-P在国内外都进行了阶段性的开展并取得了成功的临床实践。与此同时,PGT-P作为一项正在发展的技术仍存在结果不稳定、无法排除环境因素、种族差异影响等技术缺陷;在伦理角度,若不严加规范PGT-P的筛选指征则容易产生新的社会问题。本文主要综述了目前PGT-P的技术组成和最新进展,并对其未来的发展,尤其是如何建立完整且适用于我国人群的筛查模型提出了展望。

Preimplantation genetic testing is an important part in assisted reproductive technology,which can block the intergenerational inheritance of a single gene or chromosomal diseases.Preimplantation genetic testing for polygenic disease risk(PGT-P)is one of the latest developments in the field.With the development of artificial intelligence and genetic detection technology,PGT-P can be used to analyze genetic material,calculate polygenic risk scores and convert these into incidence probability.Embryos with relatively low incidence probability can be screened for transfer,in order to reduce the possibility that the offspring suffers from the disease in the future.This has significant clinical and social significance.At present,PGT-P has been applied clinically and made phased progress at home and abroad.But as a developing technology,PGT-P still has some technical limitations as unstable results,environmental influences and racial differences cannot be ruled out.From the ethical perspective,if the screening indications are not strictly regulated,it is likely to cause new social problems.In this paper,we review the technical details and recent progress in PGT-P,and discuss the prospects of its future development,especially how to establish a complete and suitable screening model for Chinese population.