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SUSTech’s scientific research team makes major breakthrough in gene sequencing

Oct 31, 2017 Research

China's independent research and development of third-generation gene sequencer successfully applied to non-invasive prenatal testing

(Photo by Wang Kaiqiang@SUSTech CPR)


Recently, a third generation single-molecule gene sequencer application for pre-detection study was unveiled following the collaborative work of the Southern University of Science and Technology (SUSTech), the Beijing Institute of Genomics Chinese Academy of Sciences, Women's Hospital School Of Medicine Zhejiang University (hereinafter referred to as "Zhejiang University Women's Hospital ") and many other research units.

The experimental results show that the third generation single molecule gene sequencer can be successfully applied to noninvasive prenatal testing (hereinafter referred to as NIPT), with a detection rate of 100% accuracy.

This is the world's first usage of the third-generation sequencer to complete the NIPT test, and the research results have been pre-published online in the academic journal "BioRxiv". SUSTech’s Associate Professor of Biology He Jiankui’s team participated in the study.

China's leading genomics scientist, founder of the Beijing Institute of Genomics Chinese Academy of Sciences, Professor Yu Jun said that the third generation of gene sequencing will trigger a wide range of revolutionary changes in the genome science community and that the 100% accuracy in this key technology was very promising for the future.

It is the first successful use of China's first independent research and development of the third-generation gene sequencer for NIPT detection, and is currently the world's only one using single molecular sequencing technology for NIPT clinical test success case. This kind of breakthrough opens up a whole new approach in health-care which some in the industry call the “Individualized Treatment Era”.

He Jiankui is the chairman of Direct Genomics Biotechnology Company, the company behind the third generation of gene sequencer, GenoCare, which significantly reduces the cost of testing. It is specifically designed for clinical applications, making it more convenient to operate, and the industry is very excited about its promising potential.

In addition to NIPT, monomolecular gene detection technology is expected to be used in the field of gene detection in the near future to study single gene diseases, ctDNA early screening, infectious disease detection, agricultural breeding, forensic identification and so on.

The third generation gene sequencing platform used in this experiment was the third generation monomolecular gene sequencer manufactured by Genocare in July 2017, which was successfully developed and put into small batch production, with independently-owned intellectual property rights.

Currently, with the public expectations of GenoCare gradually increased, people are more and more curious and there was increasing pressure for Genocare to deliver clinical results. That’s why this first experiment in the field of NIPT is a major step forward for Genocare and for the wider community, as it delivers its first concrete results with an astounding accuracy.

NIPT uses blood drawn from pregnant women to access the fetus’ DNA for sequencing, providing biological information analysis on the fetal genetic information to detect whether the fetus presents aneuploidy chromosomal abnormalities like 21 trisomy syndrome (Down syndrome) and other diseases. Traditional serological screenings’ false positive rate can be up to 5%, while the detection rate is usually around 60-90%, and it presents many other disadvantages which could be dispelled with Genocare’s technology. With the development of sequencing technology and the rapid decline in sequencing costs, NIPT has become the first choice for fetal chromosome aneuploidy screening. However, there were some deficiencies in NIPT based on second-generation sequencing, such as the false positive rate of detection of fetal trisomy 18 syndrome (Edwards’ syndrome), 13 trisomy syndrome (Parrot's syndrome), 21 trisomy, fetal chromosomal abnormalities and microdeletion, and these inaccuracies proved to be a major blockade in the technology’s widespread adoption.

The first author of the paper, clinical director of the Women's Hospital School Of Medicine Zhejiang University Dong Minyue indicated that China's independent research and development of third-generation gene sequencer is different from the second generation due to its significant improvements.

David Smith, a professor at the Mayo Clinic in the United States, gave a presentation at the 12th International Conference on Genomics ("ICG-12") in Shenzhen from 26 to 29 October. During his presentation he said that the current status of the global monopoly of genetic sequencer created problems such as a lack of further research, high reagent costs, and imperfect customer service.

In this regard, Yu Jun believes that the success of this study is a major step forward in the field of gene sequencing, since China's independent research and development of the third-generation gene sequencers will compete with the United States Illumina company in the field of NIPT.

Academician of Chinese Academy of Sciences Chen Runsheng said that based on China's independent research and development of the third generation gene sequencer, GenoCare’s advances in NIPT research was a great success, and a sign of the increasing competition in the field coming from China, which should benefit the industry as a whole with more breakthroughs and higher quality technologies.

Edited by Jeremy Welburn/ Xia Yingying

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