Recently, the third-generation single-molecule sequencer was jointly completed by the Southern University of Science and Technology, the Beijing Institute of Genomics of the Chinese Academy of Sciences, and the Obstetrics and Gynecology Hospital of Zhejiang University Medical College (hereinafter referred to as “Zhejiang Obstetrics and Gynecology Hospitalâ€). The results of non-invasive prenatal testing show that the third-generation single-molecule gene sequencer developed by China can be successfully applied to non-invasive prenatal testing (NIPT), and the test results are 100% accurate. Relevant research results have been published on the BioRxiv website operated by the non-profit organization Cold Spring Harbor Laboratory.
“This is the first time in the world that single-molecule sequencing technology has been used to conduct NIPT clinical testing and has been successful.†Yu Jun, researcher and project sequencing technology leader of the Beijing Institute of Genomics, Chinese Academy of Sciences, said that as the third-generation gene sequencing technology research in China A leading breakthrough in the field of research and original results, this study "will substantially open the era of individualization of health and medical systems."
At present, there are some shortcomings in NIPT based on second-generation sequencing. For example, the false positive rate of detecting fetal 18-trisomy syndrome (Edward's syndrome) and 13-trisomy syndrome (Padha's syndrome) is also significantly higher. In the 21-trisomy syndrome, the accuracy of fetal chromosomal abnormalities and micro-deletion and micro-repetition detection needs to be improved.
The first author of the paper, the project's clinical director, and the chief physician of the Zhejiang University Obstetrics and Gynecology Hospital, Dong Yuyue, said that the third-generation sequencer abandoned the PCR amplification of the second-generation sequencing and was not affected by GC preferences, ensuring accurate detection of the 21-trisomy. On the basis of this, the detection rate of 18-, 13-trisomy syndrome is higher, which can effectively reduce the false positive rate. In addition, using the second-generation gene sequencer for NIPT requires at least 12 weeks of gestation to obtain more accurate results; in contrast, the third-generation gene sequencer is more sensitive and detectable cffDNA (fetal free in maternal plasma) The DNA concentration is as low as 2%, making it possible for NIPT detection time to be advanced to 8 weeks of pregnancy. This will undoubtedly facilitate early detection and early disposal, and will gain more valuable time for clinical diagnosis and treatment.
Dong Yuyue also said that the three-generation sequencing technology is expected to improve the sensitivity of fetal chromosome abnormalities, microdeletions, and micro-repetition non-invasive detection, and broaden the spectrum of NIPT detection.
At the 12th International Conference on Genomics held in Shenzhen from October 26th to 29th, David Smith, a professor at the Mayo Medical Center in the United States, stated in his report that the current global monopoly of Illumina's gene sequencer will bring many problems. For example, scientific research and medical institutions lack choices, and reagent costs remain high. In this regard, Yu Jun believes that the success of this research is a major benefit in the field of gene sequencing, which means that the third-generation gene sequencer independently developed by China has broken the future of Illumina's unique situation in the NIPT field.
According to reports, the third-generation gene sequencing platform used by the project was announced by Shenzhen Bohai Gene Biotechnology Co., Ltd. (hereinafter referred to as “Bohai Geneâ€) in July this year, which was successfully developed and put into small-scale prototype production, and has completely independent intellectual property rights. The third generation single-molecule gene sequencer GenoCare. Chen Runsheng, an academician of the Chinese Academy of Sciences, commented that the success of the NIPT research based on GenoCare proves that NIPT can be realized without amplification. This is a major technological innovation, and it is a true corner overtaking in the field of genetic sequencing technology in China.
He Jiankui, an associate professor at Southern University of Science and Technology and chairman of Bohai Gene, told the Journal of Chinese Journal of Science and Technology that the complete localization of the third-generation gene sequencer and reagents can significantly reduce the cost of detection and is much lower than that of the second-generation sequencer. The design also makes the operation more convenient, and these advantages make the three-generation sequencer easy to spread on a large scale. In the future, in addition to NIPT, the third-generation single-molecule gene detection technology is expected to be applied to single-gene disease, early screening of ctDNA tumors, detection of infectious diseases, agricultural breeding, and forensic identification.
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