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Jin Li, Vice President of Fudan University: Large Queue and Precision Medicine

Jin Li, Vice President of Fudan University: Large Queue and Precision Medicine

On August 16th, the first precision medical summit forum co-sponsored by the Precision Medicine Alliance of Zhejiang University and Hangzhou High-tech Zone and co-organized
On August 16th, the first precision medical summit forum co-sponsored by the Precision Medicine Alliance of Zhejiang University and Hangzhou High-tech Zone and co-organized by Flint Creation was held in Hangzhou. On this forum, Jin Li, an academician of the Chinese Academy of Sciences, brought us a sharing of the theme of "major alignment and precision medicine."
On August 16th, the first precision medical summit forum co-sponsored by the Precision Medicine Alliance of Zhejiang University and Hangzhou High-tech Zone and co-organized by Flint Creation was held in Hangzhou. On this forum, Jin Li, an academician of the Chinese Academy of Sciences, brought us a sharing of the theme of "major alignment and precision medicine."
In addition to the diagnosis and treatment of diseases, precision medicine is a big part of which is the prediction and early warning of diseases in healthy people. The establishment of forecasting and early warning requires firstly the data of healthy people and how the health status of healthy people is affected by the genes, lifestyle and the environment they are exposed to over time.
How exactly does the research and tracking of crowd queues study precision medicine to help precision medicine?
What is a large queue
A cohort study is a repeated observation of an individual or a group of people at different time periods and then looking at its relationship with the disease.
Large queue features:
1. Large quantity and long time: Conduct continuous tracking of 100,000 people for several decades;
2. Different populations, multiple diseases: Long-term follow-up and comparative studies, which provide data for disease description, analysis, and prevention.
3. Description, analysis, and prevention of diseases: Study of natural history and epidemiology of diseases.
Large queues are an important foundation of a public health system. Its function has three aspects:
1. Reveal the law of occurrence and development of diseases and master the dynamic health of the population;
2. It can monitor the cause of the disease and provide evidence for early diagnosis and improvement of prevention and treatment;
3. The most important thing is to accumulate data storage samples, realize resource sharing, and provide necessary resources for biomedical research.
The earliest large cohorts began in 1948. At the time they were launched, they were not very large. However, we are now familiar with some of the cardiovascular and cerebrovascular disease prevention risk factors. For example, smoking increases the risk of cardiovascular disease and stroke, hypertension increases the risk of stroke, and physical strength. Activities can reduce the occurrence of cardiovascular disease, increase the occurrence of obesity, cardiovascular disease, and a variety of cardiovascular and cerebrovascular diseases show a downward trend. This knowledge is actually from the F cohort study.
In the past decade, countries in the world have attached great importance to research on large-scale queues, whether they are from Europe, the United Kingdom, or Sweden.
The largest collection of pan-European biobank projects and the tracking of samples have reached millions. The precision medicine program in the United Kingdom and the United States has recently made large queues its main direction.
Now the development trend of large queues we have summarized it into eight:
1. Integration. Multi-center collaborative research on multiple diseases and multiple risk factors;
2. Resources. Establishing a large-scale biobank on the basis of the queue, collecting samples and sample related data is a very important aspect;
3. Public interest. Resources are open and shared to serve human health;
4. Informatization. Bioinformatics provides conditions for the informatization and electronicization of large queues;
5. Refinement. Development of stratified medicine and individualized medicine, exposure measurement is meticulous;
6. Group learning. In-depth study of omics (genomics, transcriptome, proteomics);
7. Standardization. The emergence of various international consensus, rules and standards.
8. Continuous. The government and other relevant departments have continued to provide long-term funding to ensure stable operations.
China's large cohort study
The American Precision Medicine Program was proposed by President Barack Obama in the State of the Union Address in January 2015. One part of this is the launch of the Million Genome Project. Large queues play an important role in the United States Precision Plan. So for cohort studies, this is a few opinion leaders in our country. Cohort study is an important part of translational medicine.
China's large cohort study has just started, but it has also achieved certain results:
1. It has begun to take shape and laid the foundation for the cohort study nationwide;
2. Accumulated rich biological specimen resources;
3. With the support of national projects, there is a talented echelon and technical force for building large queues.
However, there are many deficiencies:
1. Insufficient overall design. Including multi-center, multi-discipline, and multi-factorial crossover;
2. Repeat and decentralize construction. Waste of resources, inefficiency;
3. Poor queue sharing. The construction of sample resource database and information database is not standardized and has serious barriers.
4. Lack of sustainable development mechanisms. Insufficient investment makes it difficult to develop in the long term.
The goal of establishing a cohort in Taizhou in 2007 is relatively clear. It is to explore key common issues that need to be addressed in the epidemiological cohort study of major chronic diseases in China's economic transition period, except in Western countries or in large cities such as Beijing and Shanghai. In addition to the impact of lifestyle on health, there are changes in the environment and lifestyle changes that affect the health of the Chinese population.
The economic development in the suburbs and suburbs of Taizhou has only just begun in 2007. In addition, of course, we hope to clarify the relationship between several environmental and genetic factors and the occurrence, development, treatment and prognosis of major diseases, and to provide scientific evidence for the development of prevention and control strategies for chronic diseases and the development of new treatments and interventions.
There are certain differences between the populations in the north and south of China. This difference is genetically stable and there are differences in all aspects of lifestyle. The population of Taizhou North and South meet, and the mixing time is long enough. At the same time, the size of the Taizhou population is relatively moderate and the population is stable. Epidemiological investigation of population stability is extremely important.
There are three reasons for the stability requirement:
1. Taizhou’s economic development is relatively good and relatively rich, so the livelihood is generally not a big problem;
2. Traditional culture is more prevalent than Gu Jia;
3. Comparison of the pursuit of comfort, so Taizhou is a very good ideal crowd. There is also no major natural disaster in history, and it is just at the initial stage of economic transition. In addition, the mass population of epidemiological studies is very good.
We established the Taizhou Institute of Health Research at Fudan University to study the cardiovascular and cerebrovascular diseases, malignant tumors, and metabolic diseases in the population. We designed a system of questionnaires, and also conducted electronic data collection questionnaires and sample library management systems. More difficult to do is to conduct epidemiological surveys in China, which need to be reviewed through multiple channels. In 2008, we established a comparison database of human health data and a data management system. At present, 200,000 healthy individuals aged 20 to 70 years old have more than 1,000 phenotypes per person and have collected their samples. The sample size is now 1.2 million. At the same time, we also developed standards, industry standards, and key technologies for cohort research, measured hundreds of exposures, and established a database and information platform for crowd health big data.
Not only that, but with the support of the Ministry of Science and Technology, we have established a multi-queue data integration system that can integrate other queues.
The Taizhou crowd health queue is not only a specimen database, but also a database. It is also a base, forms a facility, is shared, and ultimately promotes transformation.
Queue group-based cohort study
What needs to be done in the next queue is to perform large-scale phenotypic measurements on multiple individuals at multiple points. The study of genetics in biomedicine is mainly to find out the relationship between phenotype and genotype, but to truly understand the relationship between disease genotype and phenotype actually requires a long-term follow-up of the phenotype, so that you Can make predictions. So what really comes into play is the integration of cohort studies and systems genetics research, and then the other side of research besides genotypes is its phenotype. The so-called phenotype is its morphological characteristics, functional behaviors, and molecular composition rules from embryonic development to birth, growth, aging, and death. It can be divided into three levels: biometrics, physical characteristics, and chemical characteristics. .
These phenotypes include constitution, anatomy, behavior, Chinese medicine, molecular, immunity, flora, functional phenotypes, and the like.
Then based on the queue to resource it, eventually able to penetrate the relationship between macro and micro phenotypes. In fact, in addition to tracking the queue, the most critical thing is to be able to do in-depth research on the phenotype, and to be able to collect in-depth, so that these resources will be truly useful.
China's Precision Medical Road
Accurate medicine has played a large role in the cohort. Precision medicine is based on biomedical sciences, especially data on histology. It is based on individual patient's specificity in genotypes, phenotypes, environment and lifestyle, using modern methods. Personalized precision prevention, accurate diagnosis, and precise treatment are prevention and treatment.
In this process, you first need to take information on an individual or group to see if there is a specific mutation, and ask whether the variation is related to the disease, and then determine your clinical pathway according to the relationship. However, the problem is that the analysis of mutations needs to know the data of healthy people, the data of the disease population, and the data of healthy and diseased people are mainly from the cohort study.
The characteristics of the development of precision medicine in China are now the characteristics of key research programs. I have summarized it into 16 characters:
1. The forward-looking layout is to provide a good platform for the development and surpassing of our country's medical and life sciences through the development of early technology and the integration of resources;
2. Facing the clinic, I hope that precision medicine can be rapidly promoted to the people and benefit the people;
3. National Strategy, Queues, Samples, Data, Supporting Library Large-scale platform resources have national inputs above.
4. Lowering the steps and lowering the threshold for hospitals, research institutes, doctors, researchers, and companies can lead to better development.
So in the study above, there are five tasks:
Task 1 focuses on technology, Task 2 focuses on resources, Task 3 integrates data, Task 4 focuses on precise clinical applications, and Task 5 is promotion.
China has become more focused on the major diseases that have been plagued with high incidence in China. The technical system has more systematically considered forward-looking layouts. It has more prominently demonstrated the advantages of the nationwide system in the construction of the platform, and finally it hopes to give full play to its clinical advantages.