The development of gene testing industry and the difficulties of clinical application.

Recently, a news revealed a baby boy in Changsha, Hunan Province, because of prenatal screening did not diagnose chromosomal abnormalities.
in fact, a similar case occurred in the United States in 2013 when an Oregon couple sued the hospital for negligently causing the birth of a child to become a "Don Bao" after an prenatal genetic test for Down syndrome, winning court support and awarding the hospital $3 million in damages, according to the Nature website.
A doctor who sued American actress Angelina Jolie after undergoing preventive surgery after undergoing a genetic test was found to have missed the same BRCA gene mutation in time, lost her early preventive treatment and received $4 million in compensation.
" from the development of American medicine, the emergence of new technologies to improve medical services, the early will lead to a significant increase in medical litigation cases. Chu Wenjiang, director of the Laboratory at the National Genetic Research Institute, who
" wrote earlier that there had been three such crises before, and that genetic testing technology was likely to lead to a new wave of medical litigation.
is right or wrong, what else does the gene-testing industry need to improve in today's industry? Genetic testing to the clinic also want to open the "off"? Below with the small compilation to understand the development of the next gene detection industry and clinical application difficulties.
lack of talent: sequencing technology needs to match the superb medical technology According to the global second-generation gene sequencing industry published by Aerre Consulting, gene sequencing can be applied to reproductive health, genetic disease detection, new drug research and development, tumor diagnosis and treatment, cardiovascular disease and other fields.
in addition to prenatal screening and pre-implantation gene sequencing applications, clinical applications are broad in the market.
" the development of gene sequencing technology is also playing an increasingly critical role in the diagnosis and treatment of clinicalinfectious diseases and is able to 'dig out' new pathogens that have not previously been recognized. Zhang Wenhong, director of the infection department at Huashan Hospital affiliated with Fudan University, told the anti-infection story of "sauing fishing" in
.
a patient with fever waiting to be examined in the occurrence of fever, headache, vision loss and other multiple symptoms more than two weeks after the visit to Huashan Hospital, after the diagnosis and treatment of the hospital did not improve.
Huashan Hospital had established a genomic diagnostic platform, so the patient's cerebrospinal fluid was genetically sequenced to clarify the etiology diagnosis.
Zhang Wenhong explained that traditional pathogen seeking methods should be to cultivate pathogens, culture process is long, but also to the known pathogens of the "targeted fishing."
sequencing technology requires no culture, direct screening of pathogens in the sample, "netting fishing" to fully detect bacteria, viruses, fungi and parasites, such as nearly 7,000 pathogens.
eventually found that it was the pig herpes virus that spread infected patients, the first time that the virus was identified and cured for cross-species transmission and infection.
"But that doesn't mean that any case requires genetic sequencing, whether sequencing, sequencing in which direction, requires doctors to judge based on experience."
" Zhang Wenhong said that there are still problems such as false positive rate, some technology is not only for ordinary consumers, for hospitals is also very expensive, so doctors based on a wealth of clinical experience and people give advance judgment, as well as the results of professional interpretation is the key to the realization of precision medicine.
however, the clinical development of new technology has encountered the embarrassment of "different languages".
genetic level, molecular level for disease diagnosis and previous diagnosis at the disease level is likely to be completely different.
" such as the diagnosis and administration of cancer, which were previously based on the origin of the cancer, such as drugs for lung cancer or for breast cancer treatment.
gene age is based on the genetic variants common to tumors to determine drug use and therapeutic indications. 'This is a revolutionary reassembly of the knowledge structure in the doctor's mind, ' said Yu Yingyan, a professor at Ruijin Hospital, affiliated with Shanghai Jiaotong University's School of Medicine.

as the subject leader of the national precision medicine research and development project, Professor Yu Yingyan is recently for clinicians from the grass-roots front line to popularize, interpret new technologies, new methods, test report terms in the field of precision medicine.
at present, the "histology" technology applied in multi-gene disease detection, such as tumors, whether in testing instruments, test methods and analytical reporting methods and traditional hospital diagnostic disease testing methods are very different, if these two areas of practitioners "language system" can not be opened, even if the high cost of testing, which rich genomics information doctors do not master it is not possible to achieve the transformation to clinical applications. "It takes a process for peers to be cognitively consistent,"
.
genomics testing needs new technology, high funding and other support, is difficult to popularize at present, need to slowly transition.
" lack of standards: data quality impact report accuracy Wang Youchun, vice president of the China Food and Drug Inspection Research Institute, used "five more" to indicate the next generation of gene sequencing technology towards standardized applications.
" compared with traditional diagnostic technology, the next generation of gene sequencing technology to detect target points, high throughput, data volume, analysis process, quality control parameters.
" means that requiring every testing procedure with "uniformity" is difficult.
Wang Youchun briefly explains the contents of sequencing technology: "The diagnosis of next-generation gene sequencing consists of laboratory operations and bioinformatics analysis, which includes nucleic acid extraction, target sequence amplification or capture, and informatics analysis, including reading data, filtering data, stitching sequences, comparison interpretation, and results reporting."
" due to the complexity of sequencing, its quality evaluation faces many challenges.
In addition, sequencing technology includes bioinformatics analysis compared to traditional diagnostic techniques, which require seistype standards in new areas, such as the creation of digital references, including standard sequences or a standard database of them.
Wang Youchun said, "When the establishment of standards to guide, enterprises know how to produce such reagents, to promote industry towards standardization."
" due to the lack of standards, the current data quality of genetic testing in China is worrying.
Chu Wenjiang previously with the domestic biological enterprises to discuss cooperation, said that in the data quality control domestic work is far from enough.
if the data is wrong, post-analysis and results are a waste of time. some people in the
industry believe that second-generation sequencing detection is easy to analyze.
Chu Wenjiang says this is academically correct.
but at the application level, the analytical methods are basically the same, the databases used can complement each other.
on this basis, the quality of detection data is more important, it is not only the breakthrough point of difference, but also directly affect the accuracy of late reporting.
so-called "lost millimetres of a thousand miles", of which the millicent may be just a few base pairs difference.
call for regulation: Guarantee d'etre science projects ultimately win" strict regulatory surface may seem to hinder innovation, but it guarantees that truly scientific projects will ultimately win.
" Chu Wenjiang believes that China's regulatory and industry standards are relatively loose, the early development of rapid, but in a certain period of time need to be confused anyway, to prevent medical innovation from being kidnapped by the market.
According to the national second-generation sequencing laboratory quality assessment at the end of 2015, 55 percent of the laboratories were unqualified, and even 22 percent received a score of 0.
and a recent sample blinding test conducted by the China Food and Drug Inspection Research Institute showed that the diagnosis given by four domestic sequencing companies was not consistent.
Chu Wenjiang believes that China's genetic testing has not yet mature and complete quality supervision system, reflected in the accuracy of the data is not guaranteed.
the United States, in other cases, mobilize sedats at the federal level, such as the U.S. Food and Drug Administration and the U.S. Health Insurance and Medicaid Service, state-level, state public health departments, and trade associations, for multiple quality standards and regulation.
similar to Chu Wenjiang's point of view, China Food and Drug Inspection Research Institute Liu Donglai and other previous lying combed the U.S. regulatory path of laboratory research and development diagnostic reagents, the article pointed out that medical institutions have not been clearly regulated, directly led to the genetic testing market of all kinds of chaos, not only can protect the vital interests of consumers or patients, but also can not really promote technological innovation and industry development.
regulatory questions to answer include what qualifications the tester has, what quality standards are used, and whether proficiency is conducted on a regular basis.
Chu Wenjiang believes that these are the concerns of patients.
July 2015, the Commission issued guidelines such as the Technical Guide (Trial) for the Application of Individualized Medical Testing of Sequencing Technology, which aims to further standardize the management of genetic testing in clinical laboratories.
With the recent years, medical institutions can gradually entrust independent medical testing laboratories, pathology diagnostic centers, medical imaging diagnostic centers and other third-party services, such measures in order to improve the homogenization of services at the same time further test the regulatory capacity and wisdom of government departments.
more and more independent laboratories and companies are developing related technologies, which has led to the need for greater regulatory scope.
this is also a problem the United States has faced before. How should
respond? The test for regulators continues.
.