1.Research progress and challenges of preimplantation genetic testing for polygenic diseases
Xiaojing WU ; Jiexue PAN ; Yimin ZHU ; Hefeng HUANG
Journal of Zhejiang University. Medical sciences 2024;53(3):280-287
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.
2.Research progress and challenges of preimplantation genetic testing for polygenic diseases.
Xiaojing WU ; Jiexue PAN ; Yimin ZHU ; Hefeng HUANG
Journal of Zhejiang University. Medical sciences 2023;():1-8
Preimplantation genetic testing is an important part in assisted reproductive technology, which can block the intergenerational inheritance of single gene or chromosomal diseases. Preimplantation genetic testing for polygenic disease risk (PGT-P) is the latest development in the field. It is known that polygenic diseases usually have the characteristics of high incidence, late onset, affecting the quality of life and mental health of patients. On the basis of the development of artificial intelligence and genetic detection technology, PGT-P can analyze genetic material, calculate polygenic risk score turning into incidence probability. Embryos with relatively low incidence probability can be screened for transfer, so as to reduce the possibility of offspring suffering from the disease in the future, which has significant clinical and social significance. At present, PGT-P has been applied clinically and made phased progress at home and abroad. At the same time, as a developing technology, PGT-P still has some technical defects, unstable results, environmental influences and racial differences cannot be ruled out. From the perspective of ethics, if the screening indications are not strictly regulated, it is likely to cause new social problems. In this paper, we review the technical composition and recent progress of PGT-P, and put forward the prospect of its future development, especially how to establish a complete and suitable screening model for Chinese population.

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