The concept of precision medicine was not first proposed by US President Barack Obama, but because of his fame, he became the hottest keyword in the medical world in 2015. This year, precision medicine has become an indispensable “seat guest†in various forms of medical academic conferences.
What is precision medicine?
- emerged at an important turning point in life sciences and medical practice
On January 20, 2015, US President Barack Obama put forward the term precision medicine in his State of the Union address in the US Congress, and quickly became a hot spot in the world at the beginning of the new year. Many people can't help but ask, what does the precision medicine in Obama's mouth look like? Why start a precision medicine program at this time?
In fact, in 2011, the Research Council of the American Academy of Sciences published a research report of more than 100 pages. Among them, "towards precision medicine - building a knowledge network for biomedical research and a new disease classification method", for the first time clearly put forward the concept of precision medicine, and systematically discussed the core tasks required to achieve this goal.
Although the understanding of precision medicine, "a thousand people have a thousand Hamlet in their hearts," the "Towards Precision Medicine" report roughly clarifies the context of the US version of precision medicine: building a biomedical research knowledge network based on biological big data. Establish a new disease classification system to define new diseases or molecular typing and drug stratification, so as to achieve accurate diagnosis and accurate treatment of the disease.
According to reports, in the early 1990s, the US-led International Human Genome Project was launched with the goal of determining the order of 3 billion nucleotides on the DNA of the genetic information vector owned by humans. On April 15, 2003, the human genome sequence map was successfully published. Subsequently, a series of related studies gradually began. However, while genome sequencing efforts are rapidly advancing, researchers are gradually recognizing the limitations of genomic knowledge. In the 10th year of the publication of the Human Genome Sketch, the US Science published a review article entitled "Waiting for the Revolution," whose main point was that "the determination of human genome-wide sequences did not bring significant impact on basic medical care . progress".
Professor Wu Jiarui, from the Institute of Biochemistry and Cell Biology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, said in an article published in the journal Life Science in May this year that in the face of the current physiological and pathological complexities in the biomedical field, Someone saw the challenge and some saw the opportunity. Precision medicine came into being at an important turning point in life sciences and medical practice.
At the 2015 Tsinghua University Precision Medicine Forum, Yang Shengli, an academician of the Chinese Academy of Engineering and chairman of the Chinese Academy of Sciences Biotechnology Expert Committee, said: "At the beginning of the 21st century, the concept of translational medicine proposed by Americans has been valued by various countries, and the transformation of medical science requires medical models. And the promotion of medical reform. Obama is facing difficulties in promoting medical reform, and there are many controversies in translational medicine, and precision medicine is the goal of translational medicine. From transforming medicine to precision medicine, Obama has a new concept to make himself Under the steps."
In fact, when Obama made a State of the Union report in the US Congress, he also expressed his hope to promote medical control through the promotion of precision medicine. “Because the use of individual genetic information can effectively find the cause of the patient, it can save tens of billions of dollars currently spent on ineffective drugs.â€
The third medical revolution?
——Experiential medicine, evidence-based medicine, and precision medicine represent the process of human beings' deep understanding of diseases. The three cannot substitute each other.
Once the precision medicine program was launched, it attracted a lot of criticism when it received great attention. Some scientists believe that precision medicine is only a packaging of individualized medical concepts. Because of Obama's suggestion, there seems to be a "theoretical basis."
Looking back at history, successive US presidents seem to have initiated similar "movements". For example, Nixon proposed "declaring war on cancer," and Clinton proposed the "Human Genome Project." Perhaps it is precisely because these plans have not helped humans to fight the disease so much, and the American public has naturally questioned the slogans proposed by the presidents.
According to the details of the precision medical program disclosed by the White House, the US fiscal plan plans to allocate $215 million in precision medicine in 2016. Among them, about 130 million US dollars for the US National Institutes of Health to conduct a large-scale cohort study; 10 million US dollars invested in the US Food and Drug Administration to obtain new patents and promote the development of high-quality databases to ensure that the regulatory agencies in precision medicine And research needs in public health care; $70 million to fund the American Cancer Research Center for oncology genomics research, develop more effective cancer treatments; $5 million to the Health and Human Services Bureau for a set of standards And requirements to protect privacy and cross-system data exchange security.
He Lin, a member of the Chinese Academy of Sciences and a geneticist, believes that from the detailed plan of the precision medicine program, it is more like a recombination of a series of original plans such as the International Human Genome HapMap Project and the Tumor Genome Variation Map Research Program. Superimposed to establish a working standard and a new goal.
"Precision medicine is based on the concept of tools, so it can usher in a new era of science." Wang Yongjun, vice president of Beijing Tiantan Hospital, said in an interview that precision medicine represents the arrival of the third medical revolution. He also quoted a passage from physicist Freeman Dyson to express his opinion: "The new scientific direction often stems from new tools, not new ones. The concept-driven scientific revolution is only explained by new methods. Old things, and the tool-driven scientific revolution is to discover new things that need to be clarified."
In Wang Yongjun's view, medicine can be divided into three periods, namely, the period of empirical medicine, the period of evidence-based medicine, and the period of precision medicine. Among them, evidence-based medicine can be divided into two periods. The previous period was an excessive pursuit of evidence-based medicine, dogmatism, and eventually found that the same disease was given the same treatment, and the outcome was not the same. Since then, based on the deepening of the understanding of medicine, the stratification of patients has become more and more detailed, and entered the era of "individualized medicine".
"Experiential medicine, evidence-based medicine, and precision medicine represent the process of deepening human understanding of diseases. The three cannot substitute each other." Wang Yongjun bluntly said that precision medicine is not a complete individualized medicine. The biggest difference between the two is that the former uses tools. More, mainly including omics, imaging, and data, and individualized medicine tends to rely more on omics.
"Accurate medicine is not only a concept and a theory, it is realistically accessible." Wang Chen, an academician of the Chinese Academy of Engineering and the president of the China-Japan Friendship Hospital, said at the High-Tech Medical Development and Internet Medical Summit Forum that the core purpose of precision medicine and the pharmacogenomics Individualized medicine is the same, that is, to achieve maximum efficacy, minimize damage and optimize resources.
Considering that precision medicine needs to be individual-centered, integrate biological databases of different data layers, and highly correlated knowledge networks, Wu Jiarui pointed out that precision medicine is a complex concept with rich connotations, which cannot be simply equated with individualized medicine, just like Chinese medicine. It is individualized medicine, but it is not precision medicine. Genomic sequencing is one of the main tasks of achieving precision medicine, but it cannot limit the implementation of precision medicine to genome sequencing. On the other hand, it is important to recognize that precision medicine will have a major impact on biomedical research and medical practice, potentially changing the traditional model of human health and disease resistance.
How to achieve precision?
——At present, precision medicine is the intersection of the two frontiers of big data and group science.
Why is the academic world so admired for the concept of precision medicine? Chen Runsheng, a member of the Chinese Academy of Sciences and a bioinformatician, believes that there are two main reasons. First, the development of genomics in recent years has led people to believe that through the genes can understand the molecular nature and causes of diseases, the diagnosis and treatment of diseases can be done more accurately. Second, with the development of precision medicine, the future is expected to revolutionize the current medical science, from the diagnosis and treatment of diseases to the assessment, prevention and health care of healthy individuals, and even the emergence of new health industries that are in line with the medical system.
How to achieve precision medicine? Chen Runsheng said that precision medicine has two important cornerstones. One is the development of omics research represented by the genome, including genomes, transcriptomes, proteomes, metabolomes, etc., and the accompanying big data research, including methods, strategies, and theories. Second, on the basis of understanding the knowledge of omics, open up the relationship between genotype and phenotype, among which the important tools are bioinformatics, including biological networks and systems biology. “Currently, precision medicine is the intersection of the two frontiers of big data and group science.â€
“In these two areas, we still face a lot of challenges.†Chen Runsheng, for example, said that the biggest challenge in group learning today comes from the “dark information†in the genome, that is, those that are detected but do not know their function. information. At present, among the 3 billion human genetic codes of human beings, only 3% of the genetic information that is truly understood by humans and is dominated by the "central law". Although the biological effects of most non-coding sequences are currently unknown, from the perspective of evolutionary biology, comparative genomics, and non-coding RNA, this part of the genetic code is closely related to human health.
Studies have shown that a class of non-coding sequence RNA PCGEM1 can cause prostate cancer, non-coding sequence RNA his-1 can cause leukemia, and non-coding sequence RNA MALAT-1 can cause non-small cell lung cancer. In addition, a group of non-coding sequence RNA H19 similar to P53 can exert a tumor suppressor effect. According to Chen Runsheng, in the 10 years from 2001 to 2010, Science magazine has paid attention to non-coding sequences, non-coding genes and non-coding RNAs as important scientific issues six times. “This means that a large number of unknown genetic codes in the human genome also perform important biological functions. This also shows that there are still too many unknowns to be discovered in terms of omics for the important pillar of precision medicine.â€
In terms of big data, there are also many scientific problems. Chen Runsheng said: "The biggest headache for big data analysts is to explore the specificity of different individuals in common diseases and the commonality of groups in different diseases from big data." For example, for special tumor research, only the samples that can be obtained can be obtained. Dozens or hundreds. Using such a small sample system to assess the disease characteristics of a population is an incomplete mathematical problem. Not only that, because tumors, cardiovascular and cerebrovascular diseases, etc. are all polygenic diseases, the genetic variation of patients in the sample is not completely the same. How to analyze similar "big data, small samples" to find out the mathematical laws and achieve accurate diagnosis and treatment? This requires the establishment of new mathematical models and theoretical analysis systems.
Because of the complexity of human life, in the album published by Cell magazine in March 2014 to commemorate the 40th anniversary of the founding of the journal, R. Weinberg, a famous American oncologist, published a book entitled "Complete Cycles - From Endless Complexity" The review article on simplicity and then back to complexity points out that in the past 40 years, scientists engaged in cancer research have faced the confusion of numerous incomprehensible pathological phenomena, the belief that the reductionism must win, and then until recently. Renewed the inexhaustible complexity of the disease in a few years.
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