Gene sequencing and diagnosis are subject to precision medicine.
gene sequencing and diagnosis analyzes genomic information on biological samples such as tissue, cells and blood samples through a new type of gene sequencer, and uses this information in clinical medical diagnosis, personalized drug use guidance, disease pathogenesis research, life control mechanism research, clinical application and scientific research.
here to learn about the background and characteristics of the gene sequencing industry, business models, market space, and regulatory policies.
1.1 Gene Sequencing Industry Background 1.1.1 Macro Background The 21st century is known as the age of life science, biotechnology in health care, agriculture, environmental protection, light chemical industry, food and health care and other important fields to improve human health and living environment, improve agricultural and animal husbandry and industrial production and quality is playing an increasingly important role.
the State Council issued the "Bio-Industry Development Plan" on December 29, 2012, which states that "the bio-industry is a strategic emerging industry identified by the state and is expected to become one of the pillar industries of China's economy by 2020".
2015, China's Ministry of Science and Technology held a "National Expert Meeting on Precision Medicine Strategy" and established the China Precision Medicine Strategy Expert Group, with 19 experts forming the National Expert Committee on Precision Medicine Strategy, and plans to invest 60 billion yuan in basic research and applied research by 2030.
December 2016, the National Development and Reform Commission issued the "13th Five-Year Plan" for the development of the biological industry, pointing out that since the 12th Five-Year Plan, China's bio-industry compound growth rate has reached more than 15%, in 2015 the industrial scale of more than 3.5 trillion yuan.
by 2020, the scale of the biological industry will reach 8-10 trillion yuan, and the value added of the bio-industry will account for more than 4% of GDP, becoming the leading industry of the national economy.
1.1.2 Technical background genetic testing (DNA sequencing, or DNA sequencing) refers to the analysis of the base sequence of specific DNA fragments, each of which contains four components - adenine (A), thymus (T), cytosine (C) and ostrich (G), gene sequencing is how to interpret the meaning of these four codes and how they are arranged, and typical identification techniques include genome-wide correlation analysis (GWAS).
simple, the application of the gene sequencing industry in humans is to use instruments to sequence DNA from human samples, to predict the risk of a disease through comprehensive high-tech physical examinations of genomics and clinical medicine, and thus take early action.
it is known as the best technology to prevent and treat genetic diseases, just collect a few milliliters of blood or saliva, you can predict its risk of cancer, leukemia and other diseases, and put forward the corresponding treatment measures.
gene sequencing industry mainly provides basic sequencing services and sequencing data processing and answering in-depth services, on behalf of the company for Illumina, Thermo Fisher, Shenzhen Huada Gene Co., Ltd. (300676. SZ( "Huada Gene"), Chengdu Berry and Kang Gene Technology Co., Ltd. (000710. SZ) (hereinafter referred to as "Berry Gene") and so on.
from the medical diagnosis industry classification, gene sequencing belongs to the in vitro diagnostic industry (IVD), that is, through body fluids, cells, tissues and other human samples for in vitro testing, used to prevent and control diseases, prediction of genetic diseases and so on.
IVD includes biochemical diagnosis, immunodiagnosis, molecular diagnosis, as well as microbial diagnosis, urine diagnosis, clotting diagnosis, tissue diagnosis, hematology and flow cell diagnosis and other other ways, in which the molecular diagnosis sub-sector grows fastest, market-driven new technology is launched fastest, mainly refers to the application of molecular biology methods, the detection of the genetic material or viruses, pathogens of the genetic structure and type of the detection of genetic diseases, infectious diseases and other clinical diseases.
molecular diagnosis the mainstream technology is in vitro nucleic acid amplification technology (PCR), and gene sequencing is one of the mature development directions of in vitro nucleic acid amplification technology and gradually accepted by the market.
China's gene sequencing technology started early, but the early development is slow, in recent years, rapid development.
has been developed since the 1980s for more than 30 years, has gone through three stages: (1) the use of DNA molecular hybridization technology for genetic diagnosis of genetic diseases, the earliest reported is in 1983, the Chinese Academy of Medical Sciences and other units completed prenatal genetic diagnosis of thalassemia, only stay in the university and research stage, did not enter the clinical laboratory; PCR) gene diagnosis, using quantitative PCR and real-time PCR to detect a variety of DNA and RNA pathogen loads, began to enter the clinical laboratory;
1.1.3 Application Background In recent years, the number of cancer cases and deaths worldwide has increased steadily, from 108.65 million in 2002 to 13.034 million in 2010, and the number of cancer cases worldwide is expected to reach 16.55 million by 2020, with 27.02 million cases and 17.53 million deaths in 2050.
gene sequencing can be used to screen for tumors and birth defects to prevent early and guide precise treatment of diseases such as tumors to significantly reduce the cost of treatment.
expects the global market for genetic sequencing to reach $8.7 billion by 2020 and the global market to rise rapidly to about $30 billion by 2022.
countries in the Human Genome Project (Human Genome Project) such as the United States, China, Germany, the United Kingdom and France are leading the rapid growth of global gene sequencing.
China, as one of the participants in the HGP program, is one of the main drivers of market development in Asia.
China's gene sequencing industry in 2014 in a disorderly development stage, the market demand is huge, but the lack of relevant regulatory policies, leading to the disorderly development of enterprises in the industry.
Since 2014, China has issued 13 relevant laws and regulations, the industry has entered the development stage of policy guidance.
February 2014, the State Food and Drug Administration (CFDA) and the State Health and Conservation Commission jointly issued a "Notice on Strengthening the Management of Products and Technologies Related to The Clinical Use of Gene Sequencing", which stipulates that all products based on high-throughput sequencing technology testing instruments, diagnostic reagents and related medical software shall be approved and registered by the CFDA and approved by the State Health and Conservation Commission before they can be applied.
the policy gradually warmed up in 2015, the Commission approved 108 medical institutions to carry out high-throughput gene sequencing prenatal screening and diagnosis (NIPT) clinical pilot, approved through 13 medical institutions to open high-throughput gene sequencing implantation pre-implanted embryo genetic diagnosis (PGD) clinical application pilot, through 13 hospitals and 7 third-party testing centers as the first batch of tumor diagnosis and treatment professional high-throughput sequencing gene application clinical application units. During the
, cFDA approved Huada Gene, Berry Gene, Zhongshan University Daan Gene Co., Ltd. (002030. SZ (hereinafter referred to as "Daan Gene") second-generation gene sequencing diagnostic NIPT products on the market.
in the second half of 2018, the CFDA has approved the launch of a tumor NGS testkit for four companies: Stone Research Medicine, Noord, Shihe Gene and Eide Bio.
1.2 Industry Segmentation Precision Medicine Industry is broadly divided into precision diagnosis and precision treatment, precision diagnosis mainly refers to the analysis of the mechanism of disease occurrence through genetic testing and other modern biological techniques, clinical patients' different genomic data and disease correlation, to provide accurate individual information for disease prediction, treatment, drug development and other basis.
precision medicine refers to the individual treatment of patients' tumors, chronic diseases and other diseases based on accurate diagnosis, so as to achieve "the treatment of the same diseases", so that the treatment is most effective, economical, the least side effects.
gene sequencing is a category of accurate diagnosis.
1.3 Gene sequencing industry business model gene sequencing enterprise sales to take direct customer-oriented direct marketing model, first of all, to obtain customer consent for individual gene sequencing, for the customer's detection or treatment and other different clinical needs, to provide standardized sequencing services or design different sequencing programs and pre-charge, to obtain customer blood, body fluids or tissue samples, complete detection, analysis, reporting and other gene sequencing services, the results of the analysis as products to customers.
gene sequencing companies generally provide fees for on-board testing, sample processing and data analysis.
the industry, most of the enterprises on-board test revenue is relatively high, on-board testing is mainly high dependence on equipment, and sample processing and data analysis on the technical and operator's professional quality requirements are high, can reflect the comprehensive technical strength of enterprises.
industry enterprises generally take order-based production model, enterprises according to customer orders or contracts to provide them with sequencing and data analysis services on time, for different customers to output different types of data results, such as scientific research customers due to data confidentiality, their own data analysis capabilities and other reasons need gene sequencing enterprises to provide sample basic test data;
samples detected by a gene sequencing company are provided on a temporary basis after the customer signs an agreement, so the company does not need to stock it or stock.
1.4 Gene Sequencing Industry Characteristics (I) The highly fragmented and highly competitive gene sequencing industry can be subdivided into two categories of providing sequencing services and sequencing data analysis by the nature of the business.
with the gradual maturity of sequencing technology and the continuous improvement of the function of the sequencer, the current sequencing service industry access threshold is not high, the market competition is fierce.
due to the low barrier sentry threshold of the industry, the market for sequencing services is highly fragmented, contrary to the pattern of the sequencer oligopoly.
in the international market, the top five sequencing service providers account for only about 20% of the market share.
technology-driven sequencing services in the centralized gene sequencing industry are homogenized, while sequencing data analysis relies mainly on bioinformatics, medical big data, cloud platforms and other technologies.
master data analysis ability can quickly realize the interpretation of sequence data, form a gene database, and then optimize the data analysis ability, improve efficiency and accuracy.
with the industry with the real core competitiveness of enterprises gradually grow, no core technology enterprises will be eliminated, industry concentration gradually increased, the future gene sequencing industry will be from the product ization stage to the data platform stage.
(iii) The core of commercial promotion is to reduce the cost of sequencing capillary sequencing technology in 1998, so that the speed of gene sequencing increased 10 times, the original plan of 15 years to complete the progress of the human genome sequencing program greatly accelerated.
the birth of the second-generation sequencer in 2005, the sequencer is gradually updated, the 2013 listing of high-throughput sequencer represents the highest level of the current second generation sequencing, has made the sequencing time significantly reduced, detection costs significantly reduced, forming the "super-moore law" trend (see figure 5).
the cost of genetic sequencing is expected to be further reduced in the future.
1.5 Gene Sequencing Market Space has grown rapidly in the gene sequencing market in recent years, from $794 million in 2007 to $5.3 billion in 2017, and is expected to maintain rapid growth in the coming years.
, according to BCC Reasearch, the global gene sequencing market is expected to reach $13.8 billion by 2020, with a COMPOUND annual growth rate of 18.70 percent.
in the foreseeable future, genomics-related industries will make breakthrough development sandinalization and generate commercial value in four areas: (1) Gene technology will be widely used in the fields of complex diseases, agrogenomics, microbiology and macrogenomics, which will bring about significant changes in human health, agriculture and environmental protection; Birth defects, improve the level of human health, (3) tumor genome research will reveal the pathogenesis of tumors, tumor genome sequencing technology has become the basis of individualized treatment of tumors, (4) genomic technology combined with the latest scientific results of traditional clinical medicine to form precision medicine, for disease diagnosis, treatment, clinical decision-making to bring revolutionary changes.
1.6 Gene Sequencing Industry Regulatory Authorities and Policy 1.6.1 The entire gene testing industry involves a large number of sub-sectors, including hospitals, pre-inspection centers, instrument reagent manufacturers, commercial companies, different technology platforms, etc., so there are more regulatory authorities involved.
(1) The National Development and Reform Commission (NDRC) is responsible for formulating the development plan for the genetic testing industry.
June 2015, the National Development and Reform Commission (NDRC) issued the Notice of the National Development and Reform Commission on the Implementation of Major Engineering Packages for Emerging Industries, which mentioned the need to focus on the development of new medical technologies such as genetic testing, and will build 30 demonstration centers for the application of gene testing technology within three years to rapidly promote the clinical application of genetic testing and the localization of gene testing instrumentres.
local development and reform commissions are also involved in the pricing of genetic testing projects, such as the Sichuan Development and Reform Commission pricing non-invasive DNA prenatal testing project snare 2400 yuan per time.
(ii) Health and Wellness Commission is responsible for the examination and standardization of the qualifications of genetic testing institutions, which are specifically supervised by three parts, namely, the Medical and Political Reform Bureau, the Department of Maternal and Child Affairs, and the Pre-Inspection Center.
(1) The Medical and Medical Reform Bureau has issued the first batch of clinical pilot lists of genetic sequencing in four specialties, such as genetic diagnosis, prenatal screening and diagnosis, pre-implantation embryo genetic diagnosis, tumor diagnosis and treatment, and other norms such as the Technical Guide to Genetic Detection of Drug Metabolism Enzymes and Drug Action Targets (Trial) and The Technical Guide to The Detection of Individualized Tumor Sistreatment (Trial); On the basis of the pilot list of medical reform bureau, 108 medical service institutions have been added to carry out clinical pilot of NIPT high-throughput sequencing technology, and 13 institutions have been approved to carry out clinical pilot of pre-implantation embryo genetic diagnosis;