Doctors who can see rare diseases are more rare than rare diseases. How to effectively form a closed-loop diagnosis and treatment resources

11 years ago, McKinnon Galloway was diagnosed with II neurofibromatosis (NF2), a rare disease with a 1/25000 incidence rate of the newbornThe common symptom is that the patient will be deafness when she is youngThis undoubtedly causes a heavy blow to Galloway, and even more frustrating and anxious for her, she seems to have had a disease that even doctors do not knowShe didn't know when to see a doctor or what kind of examination to do; few people around her knew about the disease and she had to search for information or even educate doctors herself< br / >Due to the small number of people with rare diseases and the lack of diagnosis experience of many grass-roots doctors, many grass-roots clinicians are lack of understanding of rare diseasesAs a result, most of the patients with rare diseases have to toss and turn for many times to be diagnosed, which may have passed the golden period of treatment< br / > how to break the rare disease and how to effectively connect the diagnosis and treatment resources to form a closed-loop is a key problemHow to form a closed loop? How can all parties cooperate to improve the diagnosis and treatment path of patients and provide more effective treatment methods for patients? Experts and patients from all over the world shared their experiences and suggestions in the "let science lead" neurofibromatosis public welfare forum series recently held by Wuxi apptecDrjaishri Blakeley, Professor of neurofibromatosis at Johns Hopkins University School of medicine, pointed out that Galloway's experience is definitely not a caseMany patients with neurofibromatosis (NF) have been lost in the process of seeking diagnosis"Almost all of them go to otolaryngology, neurosurgery and emergency department for help, until they find that they have" metastatic cancer ", their tumors become everywhere, and finally they receive specialized examination." Professor Blakeley said< br / > this is not only a problem for NF patients, but also a problem for almost all patients with rare diseases who can only be diagnosed by rolling for many times, which leads to the difficulties of high misdiagnosis rate, long diagnosis time and difficult diagnosis for almost all kinds of rare diseasesProfessor Blakeley explained that up to thousands of rare diseases have been found, but as the name suggests, the incidence of any rare disease is not very highIf a disease is rare enough, many medical centers have little access to these patients, and doctors cannot reach them, it may be too demanding to expect doctors to become experts in this field< br / > how to break the diagnosis and treatment of rare diseases and consolidate the basis of closed-loop diagnosis and treatment? First of all, it is necessary to improve the grass-roots doctors' awareness of the disease Zhou Wenhao, vice president of pediatric hospital affiliated to Fudan University, pointed out that it is unrealistic for every grass-roots doctor to master hundreds of rare diseases from the perspective of rare diseases But for every doctor, it is necessary and necessary to understand some of the more common rare diseases in his field of work, which is the necessary knowledge body for the future development of professional fields < br / > grassroots doctors also need the popularization of knowledge "If there is a genetic disease map, we should learn about the common diseases in rare diseases Of course, some common diseases in rare diseases are gradually changing For example, in the past, there were many genetic diseases, including Down's syndrome With the popularization of prenatal diagnosis and screening technology, These diseases are gradually decreasing, and many other diseases, such as neurofibromatosis, which we didn't know before, have also entered our professional and cognitive fields " President Zhou Wenhao said < br / > Professor Bruce Korf, associate dean of genomic medicine at the University of Alabama and Birmingham (UAB) School of medicine, proposed that it is difficult to carry out universal education on a large scale for a disease that can only be seen once in a few years However, if we can develop practical practice guidelines or checklists for clinicians, It will be very helpful for them to know what to do next when they find suspected symptoms < br / > in addition, patient tissue may also become a bridge between doctors and patients For example, Professor Blakeley, like many NF patient organizations, can lead patients to specialist clinics Although not every patient has the conditions to go to the specialist clinic, at least you know what experts there are < br / > the most important thing any patient can do for themselves is to have at least one expert consultation with an expert who specializes in their disease Professor Blakeley said < br / > in short, grassroots doctors or patient organizations are responsible for disease detection and referral, so as to establish a good referral system, which is also the basis of building a closed-loop diagnosis and treatment On this basis, specialized outpatient can provide solutions to more professional problems, which may form a key link of closed-loop diagnosis and treatment of rare diseases Professor Blakeley proposed that a feasible model is to establish some specialized diagnosis and treatment centers, in which doctors focus on these rare diseases and can provide more in-depth and professional advice on these rare diseases; at the same time, these centers can establish cooperative relationships with medical institutions in various regions, which are closer to patients and may be composed of physicians, pediatricians and local oncologists, They are able to manage the daily affairs of patients and carry out disease management < br / > in fact, China has been making similar attempts On February 15, 2019, the official website of the national health and Health Commission issued the notice of the general office of the national health and Health Commission on the establishment of the national rare disease diagnosis and treatment cooperation network 324 hospitals with strong diagnosis and treatment ability and more cases were selected as the cooperation network hospitals to establish the rare disease diagnosis and treatment cooperation network This is undoubtedly a great initiative of the medical administration management system Let grassroots doctors know where to transfer patients < br / > in fact, there are very good medical institutions in China For example, every large city has three-level first-class hospitals According to the current overall deployment of the national health and Health Commission, there are medical peaks, medical Highlands, etc., including some core bases, to help solve the discovery and diagnosis of various difficult and rare diseases and complex diseases President Zhou Wenhao said < br / > how to form a closed-loop diagnosis and treatment of rare diseases? President Zhou Wenhao summarized that, first, experts need to form an expert consensus; second, general doctors in China need to popularize knowledge, do publicity and re education, and put diseases into the list of re understanding and popularization; third, patients need to have patient organizations, which can solve some routine problems, and then go to doctors when there is a problem; fourth, Need to have a designated specialist, specialist clinic, distributed all over the country < br / > If a good referral mechanism is the basis of closed-loop diagnosis and treatment; the collaborative cooperation between specialized centers and grass-roots medical institutions is the framework of closed-loop diagnosis and treatment, and the establishment of multi-disciplinary joint diagnosis and Treatment Doctor team can improve the closed-loop function < br / > President Zhou Wenhao pointed out that many hospitals have begun to realize clearly that in the diagnosis and treatment of common diseases, a single specialty can solve them; however, for rare and difficult diseases, especially this relatively common and rare disease, it really needs the participation of multi-disciplinary experts to form a multi-disciplinary team For example, neurofibromatosis, he needs dermatologists, molecular genetic diagnosis experts, neurologists, and nursing teams These different experts in a multidisciplinary team can form a full spectrum, more beneficial to patients, more effective and standardized health management program < br / > in medical institutions, the combination of multidisciplinary team, medical and nursing team, rehabilitation team and clinical research team may be the future development direction President Zhou Wenhao said < br / > the establishment of closed-loop diagnosis and treatment can effectively shorten the diagnosis and treatment path of patients, but no matter which rare disease, the final treatment decision needs to be made by patients and doctors together Professor Korf pointed out that no matter which treatment method is adopted, patients need to communicate with doctors about risks and benefits in depth The more information patients have, the more meaningful the communication will be < br / > how to let patients master more accurate information? Professor Blakeley pointed out that in many cases, once patients know that they will go straight to the Internet when they get sick, I think it's necessary to remember that all kinds of information on the Internet are not accurate, and what you find on the Internet may not happen to you < br / > and patient organization plays a very important role in the transmission of correct information For example, the children's tumor foundation plays an important role in patient education and drug promotion, Professor Blakeley said The information published on their website is not only related to the experts who are doing research in this field or providing diagnostic materials, but also related to patients And both groups review information before it's released < br / > patients also need to speak for themselves Galloway, as a member of the patient's organization, is almost always involved in popular science NF "For example, when I'm in line, I chat with others and try to tell them what NF2 is Because I think it's very important for us to keep getting as many people to know the disease as possible If other people don't know what the problem is, how do they know how to solve it? " Galloway said < br / > fear and misunderstanding often come from the unknown Professor Liu PINAN, chief physician of Neurosurgery of Beijing Tiantan Hospital, pointed out that some rare diseases such as NF may cause appearance changes due to diseases, which may lead some people who lack medical knowledge to have immature ideas, such as resistance or unwillingness to approach the patients Eliminating fear with cognition and avoiding discrimination with understanding are the key points for medical workers, charities and patients' organizations to do public welfare propaganda We should spread them to the public These patients also have the right to pursue a better life < br / > So, to some extent, this situation will be better only if we promote the broader medical care of the society and invest more overall resources " Professor Liu PINAN said < br / > according to Wang Jian, director of the Department of genetic molecular diagnosis and the center for diagnosis and treatment of rare diseases in Shanghai Children's Hospital Affiliated to Shanghai Jiaotong University Medical College, under the current medical conditions, some effective means and methods should be adopted to let patients and doctors participate in the patient organization, help each other and introduce the latest research results quickly < br / > as a whole, I think the organization of patients with rare diseases in China is running well It's just that many children and patients may not know that they have this kind of tissue We need our doctors to tell them I would recommend that the new patients who are diagnosed with the outpatient service should pay attention to the official account of some patients with neurofibromatosis These patient organizations help new patients answer many questions " Director Wang Jian said < br / > in fact, the energy of the patient's tissues is more than that Gareth Evans, Professor of medical genetics and cancer epidemiology at the University of Manchester in the UK, pointed out that public patient organizations can link patients and doctors In this way, more clinicians, scientists and researchers will be able to devote themselves to the research in this field < br / > the diagnosis and treatment of rare diseases is a part of the research of rare diseases Director Wang Jian pointed out that the diagnosis and treatment of rare diseases is a cycle, from clinical to basic research, and then from basic research to clinical