China’s first rapid and high precision medical epigenetic diagnosis program was implemented in Shanghai Children's Hospital

The first domestic medical explicit genetic diagnosis of fast and high precision has landed Shanghai Children‘s Hospital, using high-throughput sequencing technologies for rapid genetic auxiliary diagnosis of severe genetic diseases. The report can be achieved within 7 days, compared with the conventional cycle gene diagnosis report within 45 to 60 days. It wins precious time for treatment of children with genetic disorders.

Xiaoxiao zhen lives in Shandong (not real name) was born in May 2017 baby girls, and displayed repeated fever, diarrhea, and later anal fistula and perineal fistula, with symptoms aggravating gradually. Her parents brought Xiaoxiao zhen to Shanghai Children’s Hospital after her sister suffered similar symptoms and died at the age of 18 months. The medical team led by Zhang Ting, director of digestive department, preliminarily determined that the children were suffering from extremely early inflammatory bowel disease according to the clinical characteristics and sent them for rapid genetic testing. The results indicated that xiaoxiao zhen had homozygous mutation at a site of IL10RA gene, which was confirmed to be an extremely early inflammatory bowel disease caused by IL10RA defect in combination with clinical phenotype and other examination results. It has created the diagnostic records of the most rapid genetic diseases in China from sampling to the issuance of detection reports in less than 7 natural days. 

The director said, autosomal recessive hereditary inflammatory bowel disease (also known as inflammatory bowel disease) early, onset age within a year, the main clinical symptoms include severe colitis, intestinal fistula, perineum and crissum lesions, sometimes with repeated infection, and chronic folliculitis. At present, the method to cure extremely early inflammatory bowel disease is to carry out hematopoietic stem cell transplantation and rebuild the function network of hematopoietic system and immune system. A year and a half ago, Shanghai Children‘s Hospital had the first case of inflammatory bowel disease early after more than two years to children that were diagnosed and successfully implemented a hematopoietic stem cell transplantation. The treatment effect was good. The rapid diagnosis, not only helps Xiaoxiao zhen greatly shorten the cycle diagnosis, reduce the exposure time and the economic costs, also provides in the bone marrow transplant treatment of the whole preparation time; The children’s families not only get comfort from the spiritual level, but also get the corresponding genetic counseling and guidance for the second child birth! 

Precision medicine, to solve the problem from the genetic level, has put forward very high requirements for the genetic diagnosis ability of various clinical specialties. Digestive infections in recent years is combined with clinical, dozens of rare diseases diagnosis and treatment for nearly 3 years, including the IPEX, VEOIBD, 16 p11. 2 missing syndrome, the BWS, LIG4, high IgM hematic disease, familial hypercholesterolemia, etc. With the rapid development of sequencing technology and genomics research, Rady Children‘s Hospital in the United States is the first hospital in the world to conduct rapid gene diagnosis for critically ill Children, with an average length of 6-7 days. The Shanghai Children’s Hospital and professional testing team, will quickly assist further applied to clinical gene diagnosis, and implement the 7 natural days a report, for children with rare genetic disease treatment win the precious time.It also marks that the Shanghai children‘s hospital has been equipped with the international advanced level in this area.