"This is the worst era and the best era." Huang Rufang, director of the non-profit organization "Rare Disease Development Center", said at the 4th China Rare Disease Summit held recently. In recent years, the rapid development of genetic testing technology has reduced the time and cost of diagnosis of patients with rare diseases. However, China still lacks specialized research funds for rare diseases and smooth referral systems, clinicians who can identify rare diseases, and can interpret them. The number of genetic counselors reported in the gene sequencing report is still insufficient. According to the definition of the World Health Organization, rare diseases account for a total of 0.65 ‰ to 1 总 of the total population. The extremely low incidence means that the medical profession lacks research on rare diseases, and there are very few doctors who know rare diseases; it is quite difficult for patients to get proper diagnosis and treatment. There are nearly 6,000-8,000 rare diseases recognized worldwide. After combing the existing rare disease data, the Rare Disease Development Center identified this number as 6,930. But in these 6,930 rare diseases, less than 5% have effective treatments. This means that the vast majority of patients with rare diseases lack a cure for disease and have to endure the pain. And the rare diseases faced by people in China do not stop there. On the opening day of the Fourth China Rare Disease Summit on September 18, many patients and doctors all mentioned the problem of “difficult diagnosisâ€. The father of a Gaucher disease (ie, glucocerebrosidosis, a familial glycolipidosis disease) claimed that his child had spent two or three years running through hospitals of all sizes. Was diagnosed as Gaucher disease. At this point, the child has missed the best treatment time. Duan Tao, dean of Shanghai First Maternity and Infant Health Hospital, said that the same rare disease, symptoms may be manifested in the blood system, may also be in the eye; for clinicians, the diagnosis of rare diseases is a very huge challenge. Gene sequencing helps diagnostic regulatory policy still lag In recent years, the development of gene sequencing technology has brought good news to patients with rare diseases. For this reason, Huang Rufang believes that this is the "best time." At present, the cost of genetic testing is getting lower and lower, even down to 1,000 yuan / person. If the patient's defective gene can be detected, it can help doctors diagnose and carry out targeted treatment. With the completion of the Human Genome Project, gene sequencing is becoming more widely used in the medical field. Medical problems such as tumors that have plagued humans for many years are also becoming clearer due to the development of gene sequencing technology. In the rare disease field, the role of gene sequencing is not to be underestimated. Ma Duan, executive deputy director of the Birth Defect Research Center of Fudan University and dean of the Shanghai Institute of Genomics and Human Health, said that the vast majority of rare diseases are monogenic genetic diseases, and patients often suffer from diseases. The defect is related to "only if we understand what the cause of the disease itself is, we can be precise and accurate in diagnosis." Ma Duan believes that the level of gene sequencing has been greatly improved, and bioinformatics has also evolved to the stage of being able to interpret or refine the sequencing results. From a technical perspective, humans can detect almost all rare diseases at the genetic level and use valuable information to diagnose and guide clinical medication. However, some experts pointed out that humans have tens of thousands of genes, and these genetic defects will cause problems, and humans cannot fully understand them. Moreover, China lacks genetic counselors who can authoritatively interpret genetic testing reports. Coupled with the government's regulation of gene sequencing methods, it still lags behind the development of this technology; the quality of genetic testing institutions is mixed. Under this circumstance, it is difficult for patients with rare diseases in China to fully enjoy the benefits of the development of gene sequencing technology. More importantly, China's grading diagnosis and treatment system has not yet been completed, and the referral channels between primary medical institutions and large hospitals have not been opened, and the information sharing mechanism between medical institutions is not perfect. This has caused many rare patients to travel around, wasting a lot of time and energy; more patients have not been treated, just to see a doctor, it will spend all the savings in the home. Surgical Gowns,Disposible Surgical Gowns,Anti-Virus Surgical Gowns,Medical Isolation Surgical Gowns Zhende Medical Co.,Ltd , https://www.zhendemedicals.com