Create a large-scale database and use artificial intelligence to screen samples
For the general public, talking about medical tests, you may only imagine the tests done in the hospital when the body is unwell, such as fever. However, in the medical world, testing is a specialized discipline and plays an extremely important role in the diagnosis and treatment of doctors. At the same time, under the great health strategy of China, the domestic third-party medical inspection research field is developing at a high speed. Jinyu Medical, located in Guangzhou International Biological Island, is a leading third-party medical laboratory group in the country. They have accelerated the integration of next-generation information technologies such as big data and artificial intelligence into medical testing. Currently, there are more than 2,500 testing projects. At present, one of the medical institutions with more comprehensive inspection projects in China, the annual inspection specimens exceed 50 million, which is equivalent to the annual number of inspections of 40 large-scale top three hospitals.
In June of this year, China's first list of rare diseases was announced, and 121 diseases were included in the catalogue. This catalogue is of great significance. The industry pointed out that the introduction of the catalogue will increase the enthusiasm of pharmaceutical companies for R&D of rare diseases and accelerate the market launch of rare diseases. Experts said that the wisdom test of a new generation of information technology such as big data and artificial intelligence can help diagnose and prevent rare diseases and the development of "orphan drugs." In addition, gene sequencing is the cornerstone of more accurate medical “putting downâ€.
Data review
The country's first 121 rare disease detection data
Cumulative detection of 30,000 positive samples
More than 20,000 positive samples were detected by gene and genomic technology
The number of positive samples detected by chromatographic mass spectrometry and enzymatic methods is more than 6,000
Create a Guangzhou Institute of Testing and Testing Big Data Research Institute
The relationship between data and medical tests is inseparable. In the “big concept†of medical tests, case data and test data are included. In general, a large medical inspection agency detects and accumulates huge amounts of data every year, and these test data cover every cycle of human life.
As the leading third-party medical laboratory group in the country, Jinyu Medical has an annual specimen volume of over 50 million. What is the concept of 50 million? Dr. Yu Shihui, Chief Scientific Officer of Jinyu Medical, said that there are more than ten large-scale top three hospitals in Guangzhou. The above tests are equivalent to the number of annual specimens tested in 40 top three hospitals. The detection data can provide a basis for disease prevention and control. "In the face of such a huge amount of data, the most important thing is how to convert these huge amounts of data into scientific data and rely on these scientific data to judge or predict."
In 2009, cervical cancer was included in the “two cancer screening†project in China, and cervical cancer screening was started in rural areas nationwide. Cervical cytology test refers to the observation of the exfoliated cells for the observation of the presence or absence of lesions in the cervix. Up to now, the Golden Mile team has accumulated about 34 million screening specimens in the past ten years, which is equivalent to about 15% of cervical cancer screening in the Chinese population.
Screening is for scientific diagnosis and prevention. Not only that, the data accumulated over the years of screening can enhance the understanding of the current epidemiological status of cervical cancer in China. Through scientific and statistical analysis of these data, the laboratory found that the subtypes of HPV infection in Chinese women are different from those in Europe.
Dr. Yu Shihui further explained that China is carrying out the production of cervical cancer vaccine. The vaccine is aimed at different HPV subtypes. The subtypes of infection are different. The role and specificity of the vaccine are different. I can know which HPV subtypes are mainly infected in the real Chinese population. How to guide manufacturers to develop vaccines in the future, specifically for the Chinese people to develop vaccines with more or more subtypes.
All-media reporters learned that in the past September, Jinyu Medical and China's technology giant Huawei reached a strategic cooperation, the third party in the third-party testing, pathological diagnosis and genetic analysis information, automation and intelligence, as well as smart cities, smart healthcare In-depth cooperation in construction. In other words, these huge test data and case data will be transmitted to the “cloud†in the future, which can greatly increase the storage level on the one hand, and speed up the operation speed and data “sharing†on the other hand by utilizing the characteristics of cloud computing.
Although the current big data of medical tests has achieved stage results in the study of some diseases, experts admit that the current data is still not large enough, but it is more necessary to rise to the national level, because many data must be led by the state. More important is to break the data barriers. Each hospital, university, and research institute has its own database, and the data standards are inconsistent, leading to problems when sharing. Therefore, how to effectively open up future data is an issue that needs to be considered.
A few days ago, the State Council issued the "Guiding Opinions on Promoting and Regulating the Development of Big Data Applications for Health Care." Jinyu Medical officially established the "Precision Medical" Inspection and Testing Big Data Institute with Guangzhou characteristics. It relies on covering more than 90% of the country's population, more than 22,000 service medical institutions and over 50 million annual specimens, including sample data of massive medical tests in different regions, different ethnic groups and different age groups.
Artificial intelligence can help doctors diagnose the condition
Having a large-scale database, using artificial intelligence to screen samples, and even diagnosis is a general direction of AI+ medical development. Last year, in the CCTV program "Tactic People", artificial intelligence and 15 doctors from the top three hospitals in China, who had 15 years of work experience and read more than 200,000 pieces, "had a trick", the result was artificial intelligence winning.
It is understood that the Golden Field Medical Laboratory has brought "AI" into the field of inspection as early as four years ago. Four years ago, the laboratory established a cooperative relationship with the Hong Kong Academy of Applied Sciences, and the screening of cervical cancer was carried out through software developed by the institute. If 10,000 cervical cancer samples are received, the laboratory uses artificial intelligence to exclude the normal samples, and the rest is that the "software" is not well understood or may be ill. Then, let the doctor diagnose it. This greatly reduces the workload of the pathologist compared to the traditional approach. In fact, the current artificial intelligence in the medical test is mainly the initial screening of the sample. Dr. Yu Shihui believes that even in the future, artificial intelligence can not replace pathologists, it is more to help pathologists reduce the workload.
However, medical treatment is a fairly broad field, and in some diseases such as eye diseases, pneumonia, etc., artificial intelligence develops relatively quickly. In February of this year, Guangzhou Women and Children Medical Center developed an artificial intelligence system that can diagnose eye diseases and pneumonia based on deep learning. The research results were published in the world's top journal “Cells†in the month. It is understood that this artificial intelligence result can give the doctor a diagnosis suggestion based on the image data, and explain the basis of the judgment. The comparison experiment found that the accuracy of the system in the diagnosis of eye diseases reached 96.6%; the accuracy rate was 92.8% in distinguishing between pneumonia and health status. The data shows that a trained doctor can take 3 to 5 minutes on average from a chest CT, while relying on artificial intelligence takes only 3 to 5 seconds.
According to reports, Jinyu Medical has cooperated with Professor Zhang Kang of China's artificial intelligence "Dajia" and Academician Hou Fanfan of Southern Hospital to "integrate" artificial intelligence into big data and try to study membranous nephropathy. At present, artificial intelligence has extended from pathology, including cervical pathology of cervical cancer, histopathological lung cancer and kidney system diseases, to gene sequencing and microbial detection, such as Helicobacter pylori.
"At present, in the medical field, artificial intelligence is still aimed at a single project and a field. I hope that in the future, pathology and genes can be integrated together, and other big data will be merged, and finally the pathology and detection intelligence will be truly realized." Yu Shihui said.
Looking at the world, IBM, Google, Microsoft and other technology giants have been deploying artificial intelligence medical care in recent years. For example, IBM Watson can quickly screen cancer patient records and provide doctors with an alternative evidence-based treatment plan; Google is working on research in diabetes and neurological diseases.
According to McKinsey, by 2025, the global smart medical industry will reach a total of 25.4 billion US dollars, accounting for about one-fifth of the global artificial intelligence market.
Accurate detection of rare diseases provides treatment
In May this year, the National Health and Health Commission, the Ministry of Science and Technology, the Ministry of Industry and Information Technology, the State Food and Drug Administration and the Chinese Medicine Administration jointly announced the "First Uncommon Diseases Catalogue". The first catalogue included 121 diseases including hemophilia, albinism, and amyotrophic lateral sclerosis (commonly known as “gradual freezing human diseaseâ€). According to the relevant person in charge of the National Health and Health Commission, the catalogue is based on the disease situation of the population in China, the level of medical technology, the burden of disease and the level of protection, etc., with reference to international experience, and is selected by authoritative experts in different fields according to certain working procedures.
Rare diseases, also known as "orphans", are diseases with very low morbidity, usually in serious condition and even life-threatening. According to the definition proposed by the Medical Genetics Branch of the Chinese Medical Association, rare diseases are diseases with a prevalence of less than 1 in 500,000 or a neonatal morbidity of less than 1 in 10,000.
With the publication of the "First Uncommon Diseases Catalogue", Jinyu Medical has not only carried out related testing services, but also detected positive cases, and also released rare disease detection data for newborns and children. The number of positive samples reached 30,000. What does this test data mean? Dr. Yu Shihui explained that although these are preliminary data, based on these data, you can know what these rare diseases are, how they are distributed in various regions of China, what causes the disease gene changes and what is its type. What can be cured and what can not be treated... These data are very meaningful to the patient.
Insiders pointed out that the introduction of the "First Uncommon Diseases Catalogue" will increase the enthusiasm of pharmaceutical companies for the development of rare diseases, speed up the market for rare diseases, thereby improving the quality of life of patients with rare diseases, and will include drugs for rare diseases. Provide a reference basis.
According to reports, Jinyu Medicine has accumulated hundreds of thousands of other positive rare disease detection data, which have a wide geographical and population representative, clinical incidence of rare diseases, detection rate and specific genetic variation types in Chinese population. The research has important scientific value; it is of great significance for prenatal testing of rare diseases, newborn screening, diagnosis of rare diseases in postpartum children, and research and development of "orphan drugs".
For the prenatal screening of monogenic hereditary diseases, which is the main proportion of rare diseases, the medical team also has deep cooperation with the team of NIPT's father, Professor Lu Yuming; and teamed up with gene sequencing giant Illumina to spread the MiniSeq sequencer to the grassroots The hospital helps the accurate detection of rare diseases in China.
Gene sequencing lays the foundation for precise treatment
In addition to the prevention and diagnosis of "rare diseases," genetic sequencing lays the foundation for more "precise medical care." Precision medicine, the narrow concept is a kind of medical treatment based on gene and genome basis, detection, it is one of the important development directions of disease diagnosis and treatment. Gene sequencing is a novel gene detection technology that analyzes gene sequences for clinical genetic diagnosis, prenatal screening, tumor prediction and treatment. According to industry experts, whether it is cell therapy or gene therapy, the first step is to diagnose the condition through gene sequencing. In the implementation of precision medical solutions, a large number of cell and molecular level tests are required.
According to Dr. Yu Shihui, all diseases except humans are related to genes and genomes. For example, tumors are all genetic and genomic, and 80% of rare diseases are genetic and genomic changes.
At present, the most common clinical application of precision medicine is the direction of the tumor. This is different from previous cancer treatments. For example, in the past, some patients had cancer hospitalization. The general treatment method was to remove the tumor by surgery. Chemotherapy, radiotherapy, etc. after resection are traditional means. The arrival of precision medicine is a major change in traditional treatments.
“The patient goes to the hospital first to detect how the patient's genes have changed,†Dr. Yu Shihui explained, rather than following the traditional treatment process. Because of the rapid development of the global medical level, scientists have invented some drugs for the treatment of different genetic changes in the past years, that is, in the treatment of diseases, through targeted drugs rather than surgery, chemotherapy Wait for the traditional way.
Compared with some countries and regions, China's precision medical care is still in its infancy. At present, global precision medicine is more focused on human early diagnosis and treatment of malignant tumors. Individualized differential treatment based on individual genetic testing has become Important trends. According to the pre-deployment of China's precision medical plan, it will invest 60 billion yuan in precision medicine by 2030.
According to the "2018 Medical Artificial Intelligence Technology and Application White Paper" issued by the Internet Medical Health Industry Alliance earlier, genetic testing is to extract effective information from massive data through decoding. At present, the computing level of high-throughput sequencing technology is mainly decoding and recording. It is more difficult to achieve gene interpretation, so the effective information excavated from the gene sequence is very limited. The involvement of artificial intelligence technology can improve the current bottleneck. By establishing an initial mathematical model, the whole human genome sequence and RNA sequence of healthy people are introduced into the model for training, and the model learns the RNA shearing pattern of healthy people. The trained model is then modified by other molecular biology methods, and finally the accuracy of the model is checked against the case data. (Text / reporter Wen Jing map / reporter Qiu Weirong)
Dr. Yu Shihui:
He is currently Senior Vice President and Chief Scientific Officer of Golden Field Medicine, Distinguished Professor and Doctoral Supervisor of Harbin Medical University. He graduated from Harbin Medical University in 1985 with a bachelor's degree in medicine. He then obtained a master's degree in medical genetics in 1988 and a doctorate in medical genetics in 1993. From 1994 to 1996, he worked as a postdoctoral researcher in molecular and biochemical genetics at Hamamatsu Medical University in Japan. In 2008, he systematically applied transient cell-free molecular cloning or specific DNA sequence in vitro primer-directed enzymatic amplification technology (PCR method) to the verification of gene chip clinical test results, and developed a variety of next-generation sequencing detection projects. In the world, a variety of human genome diseases were first identified, more than 70 papers were published and many books were written. Joined Jinyu Medical in 2011 and led the Jinyu team to build a Chinese single-gene genetic disease genome database.
Source: Guangzhou Daily
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