is hosted by the Disease Challenge Charity Foundation, the China Rare Disease Alliance serves as the guiding unit, and the annual rare disease field event - the "2021 Rare Disease Cooperation and Exchange Conference" was held in Beijing recently.
Experts, enterprises, public welfare organizations, patients from all walks of life gathered together to gather wisdom to explore development for the diagnosis, treatment, payment, and services of rare diseases. Among them, at the special meeting of "'Nahan': All Wisdoms and Exploring the Truth" co-organized by Illumina, the National Children's Medical Center Affiliated Pediatric Hospital and Illumina, China's first "Expert Consensus on Rapid Whole Genome Sequencing of Hereditary Diseases in Dangerous Newborns", which has brought new ideas, new standards and new norms for gene sequencing to help the diagnosis and treatment of rare diseases in children.
Professor Zhou Wenhao, Deputy Dean of the Pediatric Hospital Affiliated to Fudan University, National Children's Medical Center, Professor Wu Bingbing, Deputy Director of the Molecular Medicine Center, Professor Luo Feihong of the Endocrinology and Genetic Metabolism, Professor Wang Dahui of the Orthopedics, Ms. Wang Yiou, Founder of the Beijing Disease Challenge Foundation, Ms. Chen Yiwei, Founder of the Popular Science Platform for Genetics and Rare Diseases, and Mr. Wang Biao, Marketing Director of Inmena Greater China, attended the special meeting to discuss the practical progress of the diagnosis and treatment of rare diseases.
"Expert Consensus on Rapid Whole Genome Sequencing of Hereditary Diseases in Dangerous Newborns" Released a group photo
80% of the genetic causes of rare diseases. What is the relationship between rare diseases, genes and genetics? There are nearly 7,000 rare diseases in the world, and about 80% of them are genetic diseases caused by genetic defects. However, since the human genome contains about 3 billion pairs of base pairs, rare diseases caused by genetic defects are not only numerous, but also rare. Most doctors find it difficult to have relevant diagnostic experience, which leads to the diagnosis of rare patients being full of foggy bumps. Data shows that every rare disease patient around the world has seen an average of 8 doctors, had 3 misdiagnosis experiences, and the average diagnosis time is more than 7 years.
Children are the hardest hit areas of rare genetic diseases. About 50% of patients with rare diseases begin to suffer from diseases in childhood, and 30% of children with rare diseases pass away before the age of 5. Rare diseases with no clear cause, such as nervous system abnormalities, complex congenital heart disease, metabolic disorders, repeated serious infections, suspected immunodeficiency diseases, severe coagulation dysfunction, etc., are common types of diseases in clinically critical children. The early symptoms of these diseases are often atypical, and multiple repeated examinations are required during routine diagnosis, which consumes time and brings pain and heavy financial burden to the children and families.
is in contrast to rare genetic diseases with diverse and complex manifestations, which are short of related medical resources. A 2018 survey report shows that nearly one-third of doctors do not understand rare diseases. At the same time, the new diagnostic method of rare diseases represented by Whole Genome Sequencing technology brings hope to patients with rare diseases' hard work, and also puts higher requirements for clinicians and medical institutions. At present, the domestic rapid genome detection of rare diseases lacks corresponding clinical guidance, and the new detection technology has not been widely used and standardized. The number of clinical centers that can conduct relevant testing is seriously insufficient, which has also become a major constraint on China's accelerating the development of diagnosis and treatment of rare diseases.
Rapid whole genome sequencing "One-time hit" and consensus promotes the end of medical treatment for patients with rare diseases
With the development of genetic sequencing in molecular diagnostic technology, genetics, a book of life full of "codes" has been "cracked" bit by bit, and genetic testing plays an increasingly important role in the diagnosis of genetically related diseases. Practice has proved that applying existing genetic diagnosis technology in critically ill children, establishing a rapid diagnosis process, and timely clarifying the cause can help critically ill children gain more treatment time windows, guide targeted treatment decisions for doctors, provide prognosis judgments, and avoid serious adverse outcomes as much as possible. This is of great significance to the diagnosis and treatment of children and the entire family.
In order to make genetic diagnosis technology faster and more accurate, and have the operability to allow more doctors to accurately replicate, 13 experts from 11 hospitals across the country, including Zhou Wenhao, Vice President of the Pediatric Hospital of Fudan University and Deputy Director Wu Bingbing, etc., summarized practical experience and repeatedly discussed and co-wrote China's first "Expert Consensus on Rapid Whole Genome Sequencing of Hereditary Diseases in Dangerous Newborns" (hereinafter referred to as the "Consensus").
Vice President Zhou Wenhao introduced: "The compilation of the consensus has brought together the joint efforts of many domestic medical institutions and relevant experts, and has made a complete summary of the clinical practice of rapid whole-genome sequencing of hereditary diseases in China. At the same time, the consensus points out that WGS can be applied to the high incidence of genetic diseases such as the respiratory system, nervous system, internal environment, metabolism, immunity and blood, and has strong practical clinical guidance value. I believe that the release of this consensus has very positive significance for changing the diagnosis and treatment difficulties of many rare diseases in China." Deputy Director Wu Bingbing said: "Based on whole-genome sequencing ( WGS) has the advantages of rapid, broad-spectrum and accurate in the diagnosis of critical neonates. The consensus has clarified for the first time the applicable population of rapid whole-genome sequencing, implementation process, specific work of clinicians in the genetic sequencing process, molecular biology laboratory requirements, genetic testing data analysis and other operating specifications. Conventional genetic testing usually takes 4-8 weeks, which cannot meet the needs of rapid and clear diagnosis of critical neonates. Rapid whole-genome sequencing, by establishing rapid implementation specifications, can shorten the time from detection to oral reporting to 7 to 10 days, providing a basis for clinical implementation of precise treatment decisions and improving the prognosis of children. "
年0年Together, "accept" rare, and promote the development of diagnosis and treatment of rare diseases,
In recent years, with people's attention to rare diseases, everyone has seen huge room for improvement in diagnosis, treatment, protection, and services of rare diseases. Ms. Wang Yiou, founder of the Beijing Illness Challenge Foundation, said: "Compared with common diseases, rare diseases are difficult from the beginning of diagnosis, and diagnosis is the first step in the process of disease diagnosis and treatment, and an important step to point out the direction. To truly solve and improve the current situation of rare diseases in China, it is necessary to run through multiple links such as disease diagnosis, drug development, clinical trials, payment burden, fertility, mental health, social employment, etc. This work has a long way to go, so it is inseparable from the joint cooperation of government, enterprises, experts, society and other parties."
Ms. Chen Yiwei, founder of "Pea Sir", who has long been committed to the public welfare science of rare diseases, emphasized: "The reality of the concept of 'rare diseases' The positive significance does not emphasize the scarcity of cases, but reminds us that the consequences of ignoring the 'rare' are unmet medical needs. In the long-term engagement in genetic consultation and public welfare science popularization, I have seen too many families take many detours in the diagnosis process. After going to multiple hospitals, after a lot of repetitive examinations, and spending energy and money, they often fail to get a definite answer, and some families even give up. In fact, finding problems from the root of the gene at the beginning is not only a huge help to the children and families, but also an important link to reduce the burden of society and medical care. "
As a leader in the field of gene sequencing, Inmena is committed to working with many parties to promote the development of rare diseases diagnosis and treatment. Mr. Wang Biao, Marketing Director of Inmena Greater China, said: "Rapid Whole Genome Sequencing (WGS) is one of the important means of diagnosis of rare diseases and genetic diseases, and has changed the fate of many patients and families around the world. Rare genetic diseases have always been an important area that Inmena and even China focuses on. We hope to work together with many parties to attract the wisdom of the people, release the power of genes, and promote the continuous improvement of the diagnosis and treatment status of rare diseases in China, so that more patients and families no longer face the hardship of seeking medical treatment, and be diagnosed as soon as possible, and obtain better treatment plans." (China Daily Beijing News Station)
Source: China Daily Network
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-
-