Research progress and challenges of preimplantation genetic testing for polygenic diseases

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.