Precision Cornerstone - In-depth Report on Gene Sequencing Industry (Part 2)
2.4 Downstream of the industry: technology continues to advance and has broad application prospects
The downstream application side of gene sequencing has a huge imagination space. With the industry's gradual standardization and the continuous improvement of the sequencing industry standards, it is an inevitable trend to realize the horizontal extension of the application side in the future. The relatively mature NIPT market is the focus of the current wrestling, and represents a huge space in the future. Tumor detection and personalized medicine will be the most valuable application port in the medium and long term, and other application scenarios will emerge in an endless stream.
According to the application field: application in the medical field (disease prevention, treatment, prognosis), non-medical applications, scientific research.
According to the application terminal: individual users (personal DNA information consultation, including paternity testing, kinship analysis or personal disease risk assessment), hospital clinical (with hospital as the terminal, providing patients with reproductive health, genetic diseases, tumors, blood diseases, Related clinical diagnosis and treatment of pathogenic microorganisms, pharmaceutical companies or CROs (drug genomics screening, targeted drug development), scientific research institutions (providing products or technologies for research work in the life sciences such as biology, medicine, agriculture, etc.) service).
Genetic disease screening and reproductive health
Neonatal deficiencies are common problems on a global scale. In China, for example, the number of newborns per year is 16 million, the incidence of birth defects is 5.6%, and the number of newborns born every year is about 900,000. The cost exceeds 100 billion yuan. Because neonatal defective genes are mainly from parents or genetic mutations in the embryonic stage, the best solution for such diseases is to diagnose before, during, and before antenatal, to achieve early detection and early treatment.
If we are divided according to the reproductive stage, the reproductive health testing market is mainly concentrated in the following sections: pre-pregnancy check, preimplantation genetic diagnosis, non-invasive prenatal screening, neonatal genetic screening diagnosis.
Pre-marital, pre-pregnancy check: used to detect whether a parent has a disease-causing gene;
Preimplantation diagnosis: for the screening of healthy fertilized eggs during in vitro fertilization;
Non-invasive prenatal diagnosis: mainly for the elderly women to screen for the presence of, for example, chromosomal aneuploidy of high-risk chromosomal diseases;
Screening for neonatal genetic diseases: genetic testing of newborns to detect possible lesions early.
At present, NGS is mainly used in the field of genetic disease screening and reproductive health for non-invasive prenatal diagnosis and preimplantation genetic diagnosis. These two projects are also the first NGS clinical application projects piloted by the state. The technology is relatively mature and traditional. Compared with the detection technology, the advantages are more obvious and suitable for large-scale promotion and development. Others, such as pre-pregnancy and neonatal genetic disease testing projects, will gradually reflect the comparative advantages of cost and flux under the trend of lowering the cost of NGS testing and detecting the packaged genes to be tested. The future space is broad.
1), non-invasive prenatal diagnosis (NIPT)
NIPT, a non-invasive detection of fetal chromosome aneuploidy, is a high-tech detection method based on large-scale parallel genome sequencing technology. This kind of detection only needs to extract a small amount of peripheral blood from pregnant women, and sequence it through high-throughput second-generation sequencing technology platform. The bioinformatics analysis of the sequencing results can determine whether the fetus has a chromosome aneuploidy disease. This technology is one of the application techniques for the successful incubation of international human genomics research results, and the clinical application in Europe and America is relatively mature.
NIPT's technical advantages
NIPT relies on second-generation gene sequencing technology to detect trace amounts of fetal DNA in the peripheral blood of pregnant women. Compared with traditional screening methods (serological screening, amniocentesis screening, etc.), NIPT has a low rate of missed detection, no risk of abortion, intrauterine infection, etc., and is extremely safe and convenient for clinical applications. Great improvement. At present, NIPT can not only screen Down syndrome (21 trisomy), but also screen for Edward's syndrome (18 trisomy) and Pat's syndrome (trisomy 13) and other chromosomal aneuploidy genetic diseases.
High-risk groups, the market potential is huge
From the perspective of the global market capacity of NIPT, according to TransparencyMarketResearch, the global non-invasive pre-screening market capacity in 2012 was US$220 million, and the CAGR of 2013-2019 is expected to be 37.6%.
From the perspective of the domestic market, according to the population sampling data of the National Bureau of Statistics, the number of births per year in China from 2008 to 2012 is between 16 and 17 million, of which high-risk pregnant women (over 35 years old) account for an average of 13%. We assume that the number of newborns per year is 16.5 million, the maternal penetration rate is 50% or 100%, and the low-risk maternal penetration rate is 20%; the average price of the existing service provider is 2,000 yuan. The NIPT market size is calculated based on the high-risk 50% penetration rate (1650*13%*50%+1650*87%*20%)*2000=78.87 billion yuan; calculated at the high-risk 100% ultimate penetration rate (1650*13%) *100%+1650*87%*20%)*2000=10.32 billion yuan. With the current optimistic estimate of 3% penetration rate, the industry still has a very broad room for growth in the future, and the limit situation can even reach the market scale of 10 billion.
Foreign NIPT market: invalid patents, oligarchy
Pattern: Foreign countries mainly in Europe and the United States. The NIPT market in the United States is mainly occupied by four companies, namely Sequenom, Verinata Health (acquired by Illumina in 2013), Ariosa Diagnostics (acquired by Roche in 2014) and Natera. During the period of 2011-2012, the NIPT products of these four companies successively landed in the US market, which opened the curtain of commercialization of NIPT. Since Sequenom's NIPT patent was invalidated in the mid-15th year, the competition among the four companies was more complete. The European NIPT market is dominated by a German company, LifeCodexx, which cooperates with Sequenom and introduces its technology.
Technology: Due to the difference in detection technology, companies that provide NIPT services in the United States can be divided into two categories. One is Sequenom and Verinata. The whole genome sequencing method is used to detect the samples. The amount of sequencing data is relatively large, and each sample needs to be obtained. The number of reads needs to reach more than 13 million (greater than 10M); the other is Ariosa and Natera's analysis using targeted sequencing, which requires relatively little sequencing throughput, which requires sequencing data of 1.1M and 6.5M respectively. .
Mode: NIPT is carried out in the form of LDTs ​​(laboratory self-built reagents) in the United States, and the tests are performed in the clinical laboratories of the above four companies with CLIA and CAP certification. The clinical test of NIPT in Europe is only required to pass the ISO 15189 certification in the laboratory, and the signature of the clinician can be completed, that is, the laboratory can declare the instrument and reagents with CE certification (IVDD certification), or in the absence of CE. In the case of certification, it is declared in the form of self-built method. (Note: CLIA, Clinical Laboratory Improvement Amendment; CAP, American Society of Pathologists; IVDD, European In Vitro Diagnostic Instrument Directive)
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