Recently, the research group led by Professor Hongyan Wang from the Institute of Metabolism and Integrative Biology at Fudan University, along with groups of Professor Yiping Shen from the Boston Children's Hospital, Harvard Medical School, and Associate Professor Yu An from the Human Phenome Institute at Fudan University, published an analytical paper entitled “Research needs for birth defect prevention and control in China in the genomic screening era” in the internationally renowned journal The BMJ (British Medical Journal).

To optimise the benefits of the genomic medicine era and empower new prevention strategies for birth defects, researchers have identified four urgent needs based on the current situation in China. These include comprehensively understanding disease burden through nationwide population genome data, evaluating disease severity as a pivotal criterion for constructing genetic screening panels, training a new generation of genetic counsellors, and initiating pilot studies to assess the cost effectiveness of genetic screening. By tackling these essential concerns, more informed policies can be made for funding the proper research, establishing the appropriate infrastructure, and using the most suitable and practical approaches for population-wide genomic screening. Moreover, this serves as a demonstrative model to showcase the effectiveness of these approaches, offering valuable insights for other nations.

Link: https://www.bmj.com/content/386/bmj-2023-078637