The molecular genetics team of Shanghai Children's Medical Center recently published a research report on how to use the second-generation sequencing technology to conduct molecular diagnosis of rare genetic diseases in pediatrics in China in the international academic journal Medical Genetics. Studies have shown that in the current state of clinical genetic physicians, genetic counselors and other professionals lacking, the "medical exome gene sequencing (POMES)" is the preferred genetic testing project for clinical suspected cases. High economic and clinical effectiveness. This solution also solves the problem of high cost of second-generation sequencing and the uneven background of clinicians' molecular genetics.
In recent years, second-generation sequencing technology has been widely used in the diagnosis of rare genetic diseases in developed countries in the West. The Shanghai Children's Medical Center uses the POMES program, which does not rely on a large number of clinical evaluations and diagnoses. Clinicians do not need to select different second-generation sequencing protocols based on the patient's clinical phenotype, which reduces the need for clinician medical genetics knowledge. It also avoids prolonging the diagnosis cycle and increasing the burden on patients due to selection bias.
The project leader and researcher Wang Jian, director of the molecular diagnostic laboratory of Shanghai Children's Medical Center, introduced that the POMES program targets nearly 3,000 known disease-causing genes. Only the second-generation sequencing of patients is screened, and the mutation is verified by a generation of sequencing methods. Source and pathogenicity. Compared with the European and American countries using a three-port all-exome sequencing method, POMES greatly reduced the economic burden of patients. As of December 2018, the program has tested more than 7,000 clinical suspected genetic disease samples, and diagnosed nearly 3,000 rare and difficult cases, about 400 species, of which at least 50 were first reported in China. (Special correspondent Xia Lin)
Source: Health News Network
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