Helin: the development of gene sequencing needs more top-level design
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Last Update: 2014-08-07
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Source: Internet
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Author: User
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Source: Science and technology daily 2014-08-07 2 this year In May, the national health and Family Planning Commission and the State Food and Drug Administration jointly issued a "stop order" on the second generation gene sequencing technology, which caused widespread noise and doubt in the industry Now, the application of two products of an enterprise has been suddenly opened The relevant people of gene detection research and application may not be optimistic about the actual effect of this policy on the future industrial development, more It's mixed What the insiders are worried about is: how can the state make industrial policies more forward-looking and strategic, rather than simply "one in and one out", and how to reduce the adverse impact of "arbitrary" on industrial development? How to consider a technology R & D and its industrial application with top-level design? In the face of China's unique genetic and gene market, how to establish the development steps of gene industry with Chinese characteristics so that gene detection technology can truly benefit the people In response to the above questions, a reporter from science and Technology Daily recently interviewed Professor He Lin, academician of the Chinese Academy of Sciences, a famous genetic biologist and President of Bio-X Research Institute of Shanghai Jiaotong University Innovation revelation: the widely applied prospect of gene sequencing industry, China birth defects prevention and control report (2012), points out that the incidence of birth defects in China is 5.6%, and 896000 new birth defects are added every year, including 250000 structural defects The prevention and control situation is grim These statistics only come from the statistics of the first birth If we count the later ones, the number of birth defects will be much higher "Iceland's population is no more than 300000 If we compare the number of people with birth defects in China, it is equivalent to the number of" disabled "people who produce three Icelandic people every year, which is not a small number How to detect these genetic defects earlier depends on the development and clinical application of gene detection technology, "Professor Helin told reporters In 2003, the completion of the human genome project really changed human beings, overturned the world, and brought people an unstoppable emerging giant industry The human genome project, which cost US $3 billion and took 13 years to complete, has been widely used According to incomplete statistics, up to now, it has generated US $700 billion in returns for human beings, and this momentum is still expanding Professor Helin believes that China is not far from the world's leading line in this field, or even even level or beyond At the beginning of July, some rare diseases in BGI's "ten million families away from genetic birth defects" program, as well as the non-invasive prenatal gene detection of six single gene diseases (thalassemia, congenital deafness, maple diabetes, adrenal hyperplasia, ichthyosis, DMD) have a certain market application prospect in China Professor Helin's team and partners are planning to launch the world's largest single gene disease detection and diagnosis project, and the core of this technology is gene sequencing "The development of a new technology to the stage of industrial application needs a forward-looking strategic plan If it is a policy that is not mature enough to make our country lose the opportunity of market development, it will not be a historical sinner!" Professor Helin said that although the unfreezing of the "stop order" came suddenly, it was indeed a "good news" for industrial development The promotion of sequencing technology requires a wide market prospect of strategic high gene detection technology, and the formulation of regulatory policies is an indispensable market guarantee in application However, how to make the formulation of policies more sustainable? Some insiders generally believe that for gene sequencing diagnostic products (including gene sequencer and related diagnostic reagents and software), domestic product registration is still applied in accordance with the regulations on the supervision and administration of medical devices and relevant product registration provisions This is perhaps the most simple and mechanical management method, focusing on the form of content-free management method, without considering the characteristics and current situation of the development of genomic medicine and gene sequencing Professor Helin pointed out that from the experience of the United States, in addition to FDA certification, more emphasis is placed on a clinical laboratory improvement amendments (CLIA) Currently, nearly 250000 CLIA laboratories are managed by another government agency CMS (the Centers for Medicare & Medicaid Services) Among them, FDA is in charge of products produced by the company, while CMS is in charge of laboratory services As long as the corresponding laboratory personnel license is complete and has passed the strict quality management of the government certification, it can provide its own verified charging clinical services Just like the government manages the sanitation of restaurants, the cleanliness of bowls and chopsticks, the cleanliness of tables, and the absence of mice in the kitchen, etc., but no matter the taste of the dishes, and whether the dishes can be sold or not The advantage of doing so is: in the face of huge medical needs and changing new technologies, all CLIA can quickly develop various new diagnostic applications according to the market demand "The government doesn't have to respond to every new application that is too busy, but patients can get new diagnosis services according to their own needs in time," Professor Helin believes that such an operation will be conducive to the best combination of technology and market The interpretation of gene test results, including gene sequencing, needs the help of professionals and computers However, the genetic counseling clinic is only limited in the Department of Gynecology, obstetrics, assisted reproduction and other departments, in other departments, genetic counseling is very rare This is the most worrying thing at present Doctors in the future should have some knowledge of genetics and gene detection The training and education of genetic consultants is an important part of the country's attention, which is of strategic significance for the development of gene sequencing market "Genetic consultants are not only the patents of clinicians, but also should be promoted to the society so that they can correctly interpret the social gene testing," Professor Helin said "In combination with this, China urgently needs to establish a" clinical genetics "discipline." In addition to the prevention and treatment of birth defects, gene sequencing is also of great significance for guiding drug use in tumor therapy Professor He Lin mentioned that taking the tumor hot spot mutation kit developed by life technologies as an example, it can detect 2800 hot spot mutations of 50 tumor core genes at a time, provide target gene candidates for 28 tumor targeted drugs approved by FDA, provide drug guidance and prognosis prediction for cancer chemotherapy, radiotherapy and targeted treatment, only 1-2 And more accurate than the existing technology This kind of pharmacogenomics products with gene sequencing technology as the core can bring great help to clinical workers, and the joint development and application of drugs and genes will become the focus of the next development of pharmaceutical industry On March 6, the national health and Family Planning Commission issued the notice on the application of pilot units for clinical application of high-throughput gene sequencing technology Many medical institutions in the country, including some units that have never contacted the technology, actively applied for the second-generation sequencing technology On June 30, the national health and family planning Commission issued the notice on the application of pilot units for clinical application of high-throughput gene sequencing technology Two second-generation sequencing instruments and matching reagents for noninvasive screening were approved by the State Food and drug administration People in the industry have pointed out that the phenomenon that the imported instruments which have not yet obtained the approval of the country of origin are replaced with a trademark and declared for approval by "localization" has to arouse people's vigilance and deep thinking In this regard, Professor He Lin also talked about his views In terms of independent innovation of the development of second-generation sequencing instruments, China has not yet had a good industrial foundation, and at present, it can only rely on the import of complete machines If some manufacturers change the imported complete machine into a shell or even just a trademark, it is improper to declare it as a self-developed medical device (the purchase and merger between enterprises can be considered separately) He added, "history has proved countless times that if you don't hold the tap in your own hands, you will be controlled by others." The reporter learned that at present, the strong rebound in domestic opinion is mainly focused on the qualification of getting approval documents should be formal Professor He Lin pointed out that the application of second-generation sequencing in prenatal screening is complicated in technology, various in process, time-consuming and laborious, demanding on personnel, site, quality control and management, and the complete localization of instruments and technologies still needs time Therefore, we should never drink poison to quench thirst, and exchange the fake domestic instruments of commercial standards to obtain medical device certificates, which makes the public generally worry about two risks:( 1) Block the independent process of high-end medical devices in our country, (2) after obtaining the certificate, some medical institutions that do not have the conditions immediately carry out independent application Most of the equipment delivery companies will send unqualified personnel to carry out the experiment, which will bring serious consequences This foreseeable risk should be given high prior attention Professor He Lin said that in addition to the general concerns of the above society, it will take time for technology access and prices For the application of gene sequencing, a revolutionary new technology, the whole society needs to pay more attention to it Clinical and scientific research need to be closely combined to develop translational medicine At the same time, social capital is encouraged to participate in it and go out of the innovation road of integration of production, learning and research In addition, in addition to the approval of new generation sequencing by government departments, traditional generation sequencing also has a wide range of clinical application needs "As the vice president of the Chinese society of genetics, I hope to work with relevant people to find a practical way for gene sequencing and detection in China, so as to promote the orderly development of China's population health cause reasonably and efficiently," he said In 2009, Professor Hollin's team revealed the 100 year old mystery of the genetic community, the precise location, cloning, mutation detection and pathogenic mechanism of the first case of Mendelian autosomal genetic disease A-1 short finger (toe) disease Mendel's autosomal dominant genetic disease, characterized by a rare permanent tooth loss named after the Chinese surname he Zhao deficiency, was found and reported in the world The work of disease gene mapping was successfully completed, which ended the embarrassing situation that China, as a country with large genetic resources, never found and named genetic diseases by itself.
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