Due to the adjustment of fertility policy, more than 15 million newborns are born in China every year. China is a country with a high incidence of birth defects. With the reduction in the incidence of infectious diseases and perinatal mortality, birth defects and genetic diseases have become the main problems that threaten the health of children and affect the quality of the population. Prenatal screening and diagnosis is an effective way to predict the presence or absence of hereditary diseases and congenital malformations in the fetus, which can promote eugenics and births and prevent the birth of defective children.
Prenatal diagnosis and testing are divided into invasive and noninvasive methods. Invasive diagnostic methods (villus removal, amniocentesis, and percutaneous umbilical puncture) appear early, but there are pain points such as high maternal injury, high risk of miscarriage, and late pregnancy, and noninvasive prenatal genetic testing (NIPT The emergence of technology can effectively complement the shortcomings of existing invasive prenatal diagnostic techniques.
The NIPT technology refers to the detection of free fetal DNA or fetal cells in maternal peripheral blood, and analysis and evaluation of the fetus for chromosomal or genetic abnormalities. Among them, the detection of fetal cells is a more accurate method, but due to the limitations of the current technology, it is impossible to accurately identify and analyze the fetal cells, so it is still mainly to detect free DNA. In addition, when analyzing free DNA, the current technology is based on random sequencing methods, which cannot screen and enrich DNA related to genetic diseases, and cannot accurately determine what percentage of the detected DNA comes from the fetus, resulting in increased costs and affecting the detection. accuracy.
In this context, Celiua developed two technologies. The first is AssureDx based on fetal cell analysis. This technology can accurately identify and isolate fetal cells in maternal blood for accurate detection. The second is AssuriT based on free DNA analysis. This technology avoids the pain points of the random sequencing method. It uses a targeted method to select and enrich gene sites in free DNA that are related to genetic diseases and can distinguish DNA sources (maternal or fetal). , To avoid blind screening, improve detection accuracy and greatly reduce costs, can make non-invasive production inspection easier to popularize.
According to Dr. Zhang Haichuan, the founder of Celiua, the company’s next-generation NIPT technology has passed the technical review of the China National Institute of Inspectorate, and clinical trials for product registration are in progress.
Breakthrough of key difficulties in NIPT technology
Provide inclusive testing solutions
Celiua is a company with advanced genetic testing technology, focusing on the field of reproductive health. Its technologies and products include two new NIPT technologies, AssuriT and AssureDx, a new generation of flow cytometer Sparrow, and various self-developed test kits.
In the peripheral blood of pregnant women, there are fetal free DNA and a small amount of fetal cells. Both free DNA and fetal cells can be used for non-invasive prenatal genetic testing. Dr. Zhang Haichuan introduced that the current NIPT technology in the market is to sequence the free DNA in maternal peripheral blood. The main diseases detected are abnormal numbers of chromosomes 21, 13, and 18.
Dr. Zhang Haichuan said: “Chromosomes 21, 13, and 18 account for less than 8% of the human genome, and current NIPT technology cannot screen these three chromosomes in advance. It can only use random sequencing to detect all chromosomes. Then compare it with the database to isolate the information of these three chromosomes. This method has a large workload, low efficiency and high cost. ”
Celiua developed AssuriT technology based on free DNA analysis. This technology uses the multiplex PCR (mutiplex-PCR) method to target and screen out free DNA fragments from chromosomes 21, 18, and 13 and identify the DNA components from the fetus through SNP sites, making these three chromosomes account for More than 70% of the sequencing data, which is nearly 10 times higher than the random sequencing method, achieves a significant reduction in cost while improving detection accuracy. In addition, the technology includes a full range of technical solutions from blood collection to data analysis, many of which have been patented.
Dr. Zhang Haichuan said that in addition to free DNA, fetal cells can also be used for non-invasive prenatal testing, and the DNA of fetal cells is more complete and the detection accuracy is higher. “However, fetal cell identification and analysis has great technical difficulties.” To this end, Celiua has developed another technology-AssureDx based on fetal cell analysis. This technology can utilize advanced cell separation and high-throughput single-cell analysis technology to achieve accurate identification of fetal cells and DNA analysis.
Currently, two NIPT technologies under Celiua are undergoing clinical trials and are expected to enter the market soon.
In addition, flow cytometry has a wide range of applications in prenatal diagnosis and other fields. Celiua has performed a series of verification and optimization of the flow cytometer according to the situation in the Chinese market. Cytometer Sparrow.
“Unlike the US market, Chinese medical resources and professionals are scarce, so Chinese customers are very concerned about the price of the equipment and whether it is easy to operate.” Dr. Zhang Haichuan said, “The flow cytometer consists of optics, circuits, And many other systems. Through a lot of research and analysis, Celiua has made a series of breakthroughs and optimizations in device component selection, system integration solutions, and intelligent data analysis. ”
The Sparrow flow cytometer is small in size and can be quickly started without tedious parameter adjustments and settings. The price of this equipment is only 1/2 to 1/3 of similar foreign products, and the related supporting software and instruments are easy to use and easy to master, which reduces the requirements for the professional ability of test operators. After one hour of training, staff can Skilled operation.
According to reports, Sparrow has obtained certificates in the first half of 2019 and has been applied to many medical institutions and testing centers. Its compact design and simple operation have earned it a lot of praise from customers. The device is also expected to start selling in overseas markets in 2020.
Value the possibilities of the Chinese market
Provide the most comprehensive testing products for the field of reproductive health
Celiua’s founder, Dr. Haichuan Zhang, received a Ph.D. in precision instruments and machinery from Tsinghua University in 1997. After graduating with a PhD, Dr. Zhang Haichuan traveled to the United States and accumulated a lot of high-tech R & D and corporate management experience. At present, Dr. Zhang Haichuan personally holds more than 50 patents.
In 2006, Celiua was established in the United States to carry out research and development of new NIPT technology and obtained a large number of technical patents. Although the company was established in the United States, it still maintains close exchanges with many Chinese companies. Dr. Zhang Haichuan said: “The Chinese market has undergone tremendous changes in the past ten years, and residents’ attention and investment in health have increased year by year. We hope to better combine the technological advantages of the United States with the market opportunities of China. ”
The industrialization of NIPT technology requires more clinical validation and data. The population of China is far more than that of the United States, and the number of large-scale medical institutions is also greater than that of the United States, which is more conducive to product transformation. Therefore, in 2013, Celiua set up a headquarters in Chengdu to gradually transfer product conversion work to China. The US team is mainly responsible for supporting technical research and development.
Dr. Zhang Haichuan said frankly: “Back to China is a huge unknown. When I first returned to China, I was unfamiliar with the Chinese market and related policies and experienced many difficulties.” Now, after years of development, Celiua has established a complete scientific research, The technology transformation, production and service base has cultivated an experienced technical and marketing team. At present, the company has more than 100 employees, and has also established close cooperation with many well-known companies and experts at home and abroad.
Dr. Zhang Haichuan said: “China is developing rapidly. It is an accident and an inevitable return to China.” In the future, Celiua’s goal is to continuously improve its products and become the company that can provide the most complete testing products in the field of reproductive health.