Genetic and Molecular Diagnostics Department

The Department of Genetic and Molecular Diagnosis of Shanghai Children's Medical Center is one of the specialized laboratories among hospitals in China that offer the most complete range of genetic diagnostic tests for hereditary diseases, with strong technical strength and a well-established genetic counseling system. All principal members of the laboratory have received three months to two years of systematic training in genetics at the Department of Genetics of Harvard Medical School in the United States; all laboratory SOPs, reporting formats and ethical regulations follow the guidelines recommended by the American College of Medical Genetics and were established according to the model of Boston Children's Hospital, a hospital affiliated with Harvard Medical School. The laboratory is equipped with genetic testing platforms such as high-throughput genome sequencers and genomic microarray analysis, and adopts advanced bioinformatics analysis pipelines from abroad; it is able to provide genetic diagnosis for more than 4,000 diseases, including monogenic hereditary diseases, congenital heart disease, multiple malformations, intellectual disability, developmental delay and autism. As of December 2020, genetic diagnosis has been performed for more than 20,000 children with rare diseases, and the laboratory has gained a preliminary understanding of the spectrum of genetic mutations in the Chinese population for more than 100 rare diseases. It was the first among children's hospitals in China to open a “Joint Medical Genetics Clinic” and a “Genetic Counseling Clinic”, and has so far provided genetic counseling and prenatal guidance to more than 3,000 families.

Since its establishment, the laboratory has published a total of more than 200 research papers (including more than 100 SCI articles, with a total impact factor >300), and representative papers have been published in international medical journals such as The New England Journal of Medicine and Genetics in Medicine. Eight person-times have been selected for Shanghai's “Outstanding Young Academic Leaders”, “Shuguang Talent” and “Pujiang Talent” programs, and graduate students trained by the laboratory have received honors such as Shanghai Outstanding Doctoral Graduate.