Molecular diagnostic technology helps precision medicine to be transformed

From "not sick" to "having sick", molecular diagnosis and precision medicine use deep data mining in the fields of birth defects, infectious diseases, and major chronic non-communicable diseases, and gradually realize the prediction of illness and the warning of illness. A new attempt to diagnose and treat diseases accurately. Recently, "The 235th China Engineering Science and Technology Forum - Molecular Diagnostics Technology and the 7th China Molecular Diagnostics Technology Conference" was held in Songshan Lake, Dongguan, Guangdong Province, a "Wulin debate on molecular diagnostics, precision medicine, and human health." Has attracted many industry experts.

Upgrade industry innovation standards

As a typical example of medical health technology innovation, the application of molecular diagnostic technology focuses on birth defects, infectious diseases, and major chronic non-communicable diseases, which have a tremendous impact on academic progress and industrial transformation. In the future, technical applications such as intestinal microecology, molecular imaging, and objective diagnosis of Chinese medicine will have far-reaching effects on health assessment and industrial development. Academician Fan Daiming, deputy dean of the Chinese Academy of Engineering, said that because individuals do not represent the whole body, the body does not represent the body, and the experience does not represent practice and other multi-dimensional problems, the difficulty of precision medical research is greatly increased. Only the industry can work together and cooperate with each other. Way out.

In the first half of this year, the Ministry of Science and Technology issued the "Notice on the 2016 National Project Application Guidelines for Key Medical Research and Development Programs, Accurate Medical Research, etc.", aiming at the common high-risk and serious diseases in China and some rare diseases with relatively high prevalence rates. Entering points, implementing precision medical research, all-innovation chain collaborative research, building large-scale health cohorts and major disease-specific disease cohorts of natural populations with more than one million people, establishing a multi-level precision medical knowledge base system and safe and stable operation of biomedical big data sharing The platform breaks through the new generation of life-group clinical application technology and biomedical big data analysis technology, and establishes an innovative large-scale experimental and analytical technical system for biomarkers, targets and preparations for disease early warning, diagnosis, treatment and efficacy evaluation.

Li Qing, director of the Center for Medical Science and Technology Development of the National Health and Family Planning Commission, believes that with the new generation of clinical life science research and development technology, through the launch of large-scale population cohort research sample research, the construction of accurate medical big data resource integration, storage, utilization and sharing platform It is the main work of industrial transformation in the field of molecular diagnosis and precision medicine in the new era. "Providing forward-looking layout along the application of disease prevention, diagnosis and treatment, and striving to further realize the clinical application and promotion of the precision medical integrated application demonstration system."

Compared with traditional sequencing technology, NGS second-generation sequencing has many targets, high throughput, large amount of data, complicated analysis process and many quality control nodes, which undoubtedly put forward higher requirements for molecular diagnostic quality control. Wang Youchun, deputy dean of China Food and Drug Control Research Institute, pointed out that the detection of non-small cell lung cancer gene mutations, such as NRAS, CTNNB1, TP53, PIK3CA, FGFR3, KIT, EGFR, BRAF, RET, PTEN, etc. In the experimental operation reagent investigation, according to the reagent detection ability, referring to the abundance and type of target distribution in the database, different types of targets must be reasonably set, the accuracy and specificity should be uniformly investigated, and representative models should be screened according to different technical principles. Detect target and type.

On August 8, the Chinese Inspectorate issued the "General Technical Guidelines for the Quality Assessment of Second-Generation Sequencing Technologies", requiring major raw materials including experimental raw materials and data analysis raw materials, including experimental materials including primers, probes, enzymes, reference materials, and Standard products, etc.; for the detection process such as sample collection, sample preparation, sequencing, bioinformatics analysis and reporting and database management, it is recommended to design quality control methods and parameters; in performance evaluation, for nucleic acid extraction, sequencing library construction, negative / Positive reference products, minimum detection limits, precision, and interfering substances are all clear standards.

Activate market conversion kinetic energy

In fact, individualized medicine assigns a corresponding prevention strategy according to the individual characteristics of each patient. It does not mean that each patient is prepared with a set of drugs or a set of medical equipment, but according to the patient's susceptibility to a specific disease. To classify and control the response effects of specific treatments, so that preventive or therapeutic interventions can be concentrated in the population with high benefit, saving unnecessary medical expenses and reducing side effects of treatment for the beneficiaries.

Li Jinming, director of the clinical immunization room of the Clinical Testing Center of the National Health and Family Planning Committee, pointed out that molecular biology methods such as gene amplification, sequencing, hybridization, proteomic analysis, and metabolomics analysis are used to detect specific genetic structure or expression levels in patients. The change, on the basis of the diagnosis of disease, is a typical feature of molecular diagnosis. "The main targets are DNA, RNA, protein and small molecule metabolites. Antigen antibodies are quantitatively present in the blood, and the immune response status of relevant indicators has potential new drug development value."

The advancement of genomics research technology has driven the research and transformation process in the clinical fields of tumor, respiration, digestion, etc., and due to the complexity of many disease-associated gene loci, it has found more risks, explored pathogenic sites, and thus screened It is still very difficult to check the high-risk groups. Professor Fan Jia, dean of Zhongshan Hospital affiliated to Fudan University, admitted that the two major problems faced by liver cancer precision medicine are early diagnosis and recurrence and metastasis of liver cancer, while EpCAM+CTC (circulating tumor cells) predicts recurrence after liver cancer resection and applies CTC. Detection technology dynamically monitors tumor recurrence after surgery, radiotherapy and interventional therapy, constructs CTC-negative enrichment and qRT-PCR detection platform and CTC analysis platform based on microfluidic chip, and further develops new postoperative anti-metastasis prevention evaluation of liver cancer The system has overcome the problems common in the treatment of tumor heterogeneity to some extent.

In addition to the transformation of academic research, the transformation of technology products and services at the industrial level is also moving forward. On the one hand, international companies such as SECOND GENOME, SERES, VEDANTA, MicroBiome, Assembly, AMI, etc., which develop medical products based on the backgrounds of immunity, microbiology, endocrine metabolism, etc., have provided many examples for the transformation of domestic application services; on the other hand, The emergence of liquid biopsy techniques for non-invasive detection techniques using blood CTC or ctDNA (circulating tumor DNA) as samples, also allowed the domestic market to see a new dawn, Boao Bio, Huada Gene, Berry and Kang All other companies have begun to lay out in the domestic segment.

On the track for disease warning and early diagnosis, many companies are working hard to improve technical sensitivity and accuracy. Based on the self-developed full set of biochip technology platforms and sequencing technologies, Boao Biotech has created a health management system for the prevention and control of birth defects and chronic disease prediction for “one small one and one old”, and will be in the Liangjiang New District of Chongqing. Under the jurisdiction of the community to carry out a two-year permanent population of 2 million diabetes health management project; Haipulos is implementing the "10,000 cancer gene sequencing program", and Shenzhen People's Hospital in cooperation to collect high-risk population from tumors to tumors I, II, III, IV The patient's sample was tested and the goal was to establish a multi-dimensional dynamic database. Geinjia, who just got A round of 200 million yuan financing, also launched the cfDNA (free DNA) baseline plan and the baseline plan for healthy people to establish a Chinese tumor baseline. database. Professor Tsinghua University School of Medicine, director of Biochip Beijing National Engineering Research Center, and President of Beijing Biotech Group Co., Ltd. Cheng Jing said that relying on innovative molecular diagnostic testing platform, comprehensive use of molecular, medical, biochemical, immunological, micro-ecological and other molecular medical testing technology, Mobile medical technologies such as wearable devices, psychophysical assessment techniques such as health physique classification, traditional medical syndrome differentiation technology, and emotional analysis, accelerate market transformation from multiple dimensions, and will be the most dynamic field for future big health industry innovation.