The Women’s Hospital School of Medicine at Zhejiang University (Woman Hospital) has achieved China’s first vitro fertilization (IVF) pregnancy based on a comprehensive assessment model that combines single-gene preimplantation genetic testing (PGT) with polygenic risk score (PRS) for breast cancer.

This breakthrough marks the first application of PRS in China to evaluate hereditary tumor risks in embryos, setting a new benchmark for the proactive prevention of genetic cancers at their root.

A team led by Huang Hefeng, an academician of the Chinese Academy of Sciences, developed the innovative method for assessing complex diseases in assisted reproduction. By using PRS, the team evaluated the genetic risk of diseases in embryos and selected those with the lowest risk for implantation, enabling primary prevention of polygenic diseases.

After years of research, the team created a PRS model tailored to the Chinese population, which can predict the risk of diseases like breast cancer.

In March, a 26-year-old woman underwent a comprehensive risk assessment using this model, yielding three viable embryos. Following treatment for related health diseases, she received a carefully selected low-risk embryo in November, and had a successful pregnancy.

This achievement marks a significant breakthrough in China's pioneering efforts to prevent hereditary cancers at their source.

An expert highlighted that the comprehensive risk assessment model offers the ability to predict the risk of polygenic hereditary diseases in offspring, playing a vital role in enhancing the quality of newborn health.

Also, it is of profound practical significance for individuals of reproductive age with a family history of genetic disorders to apply PRS to assess hereditary tumor risks in embryos.

The Institute of Genetics at Zhejiang University was officially inaugurated on Saturday to apply the relevant research results.

Based at the Women's Hospital, the institute fosters interdisciplinary collaboration across fields such as basic medicine, life sciences, public health, and clinical medicine. Its primary research focus will be on reproductive genetics, developmental diseases, and the prevention of birth defects, aiming to drive innovative advancements in these critical areas.

Huang noted that the institute would focus on key challenges such as unclear mechanisms of developmental diseases, limited early warnings, and insufficient treatments for birth defects.

The goal is to advance source control and prevention of these diseases and contribute to the Healthy China Initiative.

Cancer often exhibits familial clustering and genetic susceptibility, with certain gene mutations increasing the risk of developing the disease. For instance, women carrying BRCA1 or BRCA2 gene mutations face a 44 to 78 percent and 31 to 56 percent risk, respectively, of developing breast cancer by age 70.

However, advancements in third-generation IVF technology offer the potential to screen and block these susceptibility genes, effectively reducing the cancer risk for future generations. (ECNS)