This article is from WeChat public account:Create (ID:xingshu100), author: Qian Man, the original title:” its birth, a doctor must not let this human tragedy, is expected to finally be destroyed “, the cover from the original
“I remember very deeply that he looked at me when I was out of my ward. A boy of the same age as me, the moment I left the doctor, I felt that there was a lot of desire for life in his eyes. There is also a very strong, my incompetence at the time, the incompetent hatred of medicine, which I have never forgotten in my life.”
This is the end of March 2017, in the speech “Creating the Spring of the Glacier”, a picture of a rare patient who was shared by us and who left the hospital because they could not find a treatment plan. As a rare doctor, I often have to face such a moment of frustration and self-doubt. But it is this “powerlessness” that has inspired his enthusiasm and determination to run for patients with rare diseases in China.
After two years, he once again came to the stage of creation and shared with us his significant progress.
Hello everyone, this is my second time making a speech.
I remember that the theme of the day was called “Spring of the Ice”. In fact, at that time, I felt that the title was a bit exaggerated and I didn’t have the confidence to reach that level. But today, looking back on the achievements of the past two years, I have confidence. It is said that it is open-minded, and the so-called “spring of the glaciers” cannot be overemphasized.
So my speech today will share the research and management of rare diseases in China, as well as the frontiers of medical informatics and data science in the world, and share with you how data science can help us break through. The dilemma in the field of rare diseases.
“rare” dilemma
Maybe many people think that “rare” diseases are rare. By definition, rare diseases, as the name suggests, do mean that the incidence of a single disease is very low, and the number of patients is very small.
But there are currently more than 7,000 rare diseases known worldwide, and the proportion of patients in the global population is very high, reaching 6% to 8%, so this is a very large population.
Another very important feature of rare diseases is that 80% of them are genetic diseases, many of which start from childhood, so the impact on patients’ families and society as a whole is very significant.
Excerpts from the China Rare Disease Research Report (2018)
Because there are fewer people in each disease type, the problems faced by drug development are much more serious, and the progress is not very smooth. So far, there are less than 5% of rare diseases in the world, and more than 90% are rare. There is no cure for the disease, and even if we are diagnosed, we can’t find an effective treatment.
There are some special realities in China. For example, the national promotion of our rare disease research and clinical diagnosis and treatment services started late. The doctors at all levels have different ability to diagnose and treat rare diseases, which leads to misdiagnosis. The overall rate is high, and many patients have to undergo repeated referrals in order to obtain a clear diagnosis and effective treatment.
Therefore, rare diseases are a very, very important issue, both in terms of the country, the hospital, the society, and the patient population itself.
Top Ten Progressions
The good news is that China has made a very, very significant breakthrough in this field in the past two years. This is the top ten progress we have made in the past two years. Although there is no official body’s approval, it is I think a very important series of progress.
Top Ten Progress of Rare Diseases
The first is that China has a formal first list of rare diseases.
Why do you have this list? Because the definition of rare diseases has been controversial in China, many experts hope to use the two values of morbidity and prevalence to define (because these two are international General Standard), but China has long lacked basic research in this area. We don’t have data on morbidity and prevalence. Without data, there is no definition, no definition, no data… This knot has existed for a long time.
In 2017, the government made up its mind to break the deadlock and finally published the first rare list of diseases in China. With the first batch, there will be a second batch, the third batch, … we finally have a definition of an executable rare disease.
After that, we introduced the interpretation of the first rare disease list in China, letting everyone know what these diseases are, what scope they cover, and then the next batch of rare diseases in China. guide.
On the other hand, in order to establish a sound subject system, we began to plan the publication of “Rare Diseases” in the graduate teaching material system of higher medical colleges, and tried to provide support to rare doctors from various dimensions to ensure that they are implementing these There is a very strong support system when working.
Going further, we are actively promoting the registration of rare diseases. The National Health Planning Commission officially released the China National Rare Diseases Collaboration Network in February this year, with more than 300 hospitals.We have established a referral consultation service system for this consultation and collaboration, and we have also established the China Rare Diseases Alliance.
The State Food and Drug Administration initiated the entry of clinically urgently needed drugs, and then released a large number of tax reduction lists for rare diseases; recently in Beijing, China’s rare disease drug health technology assessment and health economic evaluation and other work It has also been completed.
These ten things, each of which is very important in the field of rare diseases, may have a major impact on a series of work such as patient diagnosis, new drug research and development, and new drug admissions abroad.
How does data science solve the dilemma?
So what problems are we facing so far, how to solve them?
Rare Dyssity
I have already mentioned some of them. For example, we don’t have epidemiological data. Our basic research is weak. Our clinical diagnosis and treatment ability is uneven. Early identification and diagnosis have encountered great challenges;
Our data is scattered among experts and hospitals across the country. It is difficult to form a unified platform to analyze the clinical characteristics and treatment characteristics of rare diseases in China;
Because our sequencing data and clinical data are separate, we have no way to form a particularly effective database that can promote drug innovation to support new drug development;
But the most important thing is that our subject system is not perfect, and our research investment and talent pool are not enough.
So these are the key issues we will solve next.
我今What is going to happen is how data science will play a role in solving these problems.
Data Science Cracks the Rare of Uncommon Diseases
Data science is an emerging force that is very important in the medical world and even in the entire life and health field. How to integrate clinical omics data to support the decision-making actions that interfere with the further development of interventions is the most urgent closed-loop problem in data science.
Put this scene into the rare disease system. We think that the solutions that can be expected now, including the future, may provide some inspiration for the domestic technology industry, mainly from the following aspects:
For example, facial recognition, which is currently the most technologically advanced company in the world, called FDNA, they have made a facial disease recognition system FACE2GENE.
Face Disease Recognition System FACE2GENE
You only need to take photos of the children. This app will measure the child’s pupil distance, eye distance, ear size, tooth arrangement, scleral color, forehead width, etc., and hereditary rare diseases. The relevant indicators are automatically compared, which is a convenient and effective method for early screening and identification of rare diseases. This work is now very well advanced in the United States, and is said to be used by 60% of US clinical genetic diagnosticians.
China also has some companies and teamsI am doing similar work, such as the Pediatric Hospital affiliated to Fudan University, but our current data volume and diagnostic accuracy have yet to be improved, and foreign software may have some deficiencies in the recognition of facial features of Chinese children, so we must have autonomous Technology System.
China’s Technology System
But the facial expression recognition is limited in some specific cases because it can only perform simple two-dimensional measurements without seeing the depth and height of the stereo.
There was a 3D facial recognition system, such as the Australian Western Australian Public Health Agency’s team of experts responsible for rare diseases, which can further capture more specific facial features such as nose height and ear contours. Predictive and early diagnosis of rare diseases.
The Peking Union Medical College Hospital is also working with international experts to advance the application of this system in the diagnosis and treatment of rare diseases.
In addition to image collection, there is an urgent need to establish a database of clinical medical information. Most of the past are written by doctors, which is not conducive to traceability and mining.
Leung Meng Chun is making a speech
At the end of 2018, experts from Columbia University in the United States confirmed for the first time in academia that we can automatically generate some data from the electronic case system and use a natural language algorithm to process the system. Data used toPredict the odds of a rare disease in this child.
However, the natural language processing between Chinese and English is very different. We are not likely to use the system for processing English text to process Chinese text, so this requires domestic experts to do a lot of work.
Next, I want to emphasize the knowledge base.
Knowledge Base and Clinical Decision Support System
Why is the knowledge base so important? Because if we want to improve the clinical quality of different diseases nationwide, then we must have a knowledge base behind the clinical decision-making system to help doctors, so that the final quality of diagnosis can be basically maintained. On a level.
Since the establishment of the rare disease registration system in China, this knowledge base has been regarded as a very important construction goal.
This is the national clinical research and development plan of the artificial intelligence-based clinical decision-making library system that our own other team got last year. I hope to have the expert clinical experience of the National Children’s Medical Center, Peking Union Medical College Hospital, National Cancer Center and other high-level hospitals. It is transformed into a knowledge base system and then promoted to hospitals across the country through the electronic case system.
Resolve more than 90% of rare diseases without drug treatment. A very critical method is to put a variety of omics data, clinical phenotype group, biological group, microbiome, proteome, genome, etc. The series of data, integration and analysis, through the retrieval and association of cross-group data, including some high-level calculations, allows us to find markers that can diagnose these diseases from diseases we don’t know, or to treat these diseases. The target. These are all work on the data level that can bring the gospel to rare diseases at the information science level.
Another work I am still doing is standardization of medical terminology based on ontology. I call it “Wanshi Interconnect.”
Mandarin Interconnect
is the semantics of medical terms and medical vocabulary between different languages and different pedagogical systems (eg genomics, phenotypes) interconnected. For example, the environment, diseases, symptoms and signs, bio-omics, and so on. It requires a large platform to put all of this data together, which can effectively promote innovation.
There is also a very important job in health care data to standardize semantic control. For example, for the same operation, each hospital is written differently. You can’t say that it is wrong because of the tradition of different medical systems. Different.
Chinese clinical term ontology
But if I want to put dozens of hospital data together for analysis, the machine will recognize it as a different content, so we need a standard system to make it a real “big data”. And without the support of such a technical system, the so-called “big data” is empty shelves, but the data is big.
In this regard, SNOMED is the world’s most important medical terminology standard system. We have trained a large number of such terminology experts in China and are also committed to promoting this work on a global scale. We now have a team that is distributing SNOMED CT (Systematized) to large teaching hospitals across the country.The license of Nomenclature of Medicine Clinical Term, the systematic terminology of the medical system, enables the internal data of these hospitals to be well structured on this basis.
Organizations for SNOMED CT
The first license of SNOMED CT was sent to Union Hospital to support the standardization of the Chinese National Registry of Rare Diseases. After many large organizations have this standard, they can do it at the big data level and at the analysis level. More knowledge innovation work.
What I want to mention in particular is the China National Rare Disease Registration System, which was launched in 2016 under the leadership of Prof. Zhang Yuyang, Associate Dean of Peking Union Medical College Hospital. .
Rare Disease Registration System
This is a holistic system of clinical omics data + genomics data + biological sample database data + knowledge base, is a unique data system all over the world. It was officially launched in July 2017. So far we have more than 32,000 patients and supported the registration of more than 150 diseases by the end of 2018.
In addition to this, we have also entered the International Rare Disease Research Alliance (IRDiRC) collaboration system to address challenges with patients and physicians worldwide.
International Rare Disease Research Alliance
The diagnosis of rare diseases is not only the need of doctors and researchers, but also the power of many sectors of society. The most respectable people here are the group of rare patients and their parents.
In the past two years, we have had the opportunity to achieve world-renowned achievements in the field of rare diseases, and to advance from the top-level design perspective, from the top to the bottom, can not do without rare patients and their families With unremitting efforts, they are a group of people who are very worthy of our respect and gratitude.
Photograph of the China Rare Diseases Conference
Maybe people are not familiar with rare diseases before, but I hope that after today, more people will give more support to rare patients, doctors who study rare diseases, and the whole country in this regard. For the sake of a better future, thank you all.
Beautiful Vision
This article is from WeChat public account:Create (ID:xingshu100), author: Qian Man