Genetic testing technology is likely to bring a new round of medical litigation. What other areas of the genetic testing industry need to be perfected now? What are the “offs†for genetic testing to go to the clinic?
A few days ago, a news case revealed that a male baby in Changsha, Hunan Province had not diagnosed a chromosomal abnormality during prenatal screening. In fact, similar cases occurred in the United States in 2013 – according to the Nature website, a pair of Oregon couples sued the hospital for negligence in the Down's syndrome prenatal genetic test, which caused the child to become “Tang Bao†after birth. With the support of the court, the court sentenced the hospital to pay 3 million US dollars in damages.
Under the influence of the incident of preventive surgery after the genetic testing of American actress Angelina Jolie, an ovarian cancer patient sued her doctor for not discovering that she carried the same BRCA gene mutation and lost early preventive treatment. The opportunity also received $4 million in compensation.
"From the perspective of the development of American medicine, after the emergence of new technologies for the substantial improvement of medical services, the early cases will lead to a substantial increase in medical litigation cases." Chu Wenjiang, director of the National Institute of Genetics, has previously written that such a crisis has occurred before Three times, and genetic testing technology is likely to bring a new round of medical litigation. What is the need for improvement in the genetic testing industry today? What are the “offs†for genetic testing to go to the clinic?
Lack of talent: sequencing technology needs to match superb medical skills
According to the research report of the global second-generation gene sequencing industry released by iResearch, gene sequencing can be applied to reproductive health, genetic disease detection, new drug development, tumor diagnosis and treatment, cardiovascular disease and other fields. In addition to the application of pre-natal screening and gene sequencing before embryo implantation, the clinical application market is broad.
"The development of gene sequencing technology is also playing a more and more important role in the diagnosis and treatment of clinical infectious diseases, and can 'dig' out new pathogens that were not recognized before." Zhang Wenhong, director of the Infectious Diseases Department of Huashan Hospital affiliated to Fudan University, told The anti-infective story of “crawling fishingâ€.
A fever-seeking patient went to Huashan Hospital for more than two weeks after fever, headache, and decreased vision. The diagnosis and treatment of the external hospital did not improve. At that time, Huashan Hospital had established a genomic diagnosis platform, and then the patient's cerebrospinal fluid was genetically sequenced to confirm the pathogenic diagnosis.
Zhang Wenhong explained that the traditional method of pathogen search should cultivate pathogens, the cultivation process is long, and it is “directional fishing†for known pathogens. The sequencing technology does not require culture, directly screens the pathogens in the sample, and comprehensively detects nearly 7,000 pathogenic bacteria such as bacteria, viruses, fungi and parasites. It was eventually discovered that the herpes virus spread to the patient, which is the first identification and cure of the cross-species transmission and infection of the virus.
"But it's not that any case needs gene sequencing, whether it is sequencing, and which direction the sequencing is going to require doctors to give judgment based on rich experience." Zhang Wenhong said that there are still problems such as false positive rate, some technologies Not only for the average consumer, but also for the hospital is very expensive, so the doctor based on the rich clinical experience and the early predictions given by the people, as well as the professional interpretation after the results are the key to the realization of precision medicine.
However, the clinical development of new technologies has encountered the embarrassment of "different language families." The diagnosis of disease at the genetic and molecular levels is likely to be completely different from the previous diagnosis at the level of the disease.
"For example, the diagnosis and administration of cancer has been based on the origin of cancer, such as drugs for the treatment of lung cancer or for the treatment of breast cancer. The genetic era is based on the genetic variation common to tumors to determine medication and treatment. Zheng Yanyan, a professor at Ruijin Hospital affiliated to Shanghai Jiao Tong University School of Medicine, said that this is a revolutionary reassembly of the knowledge structure in the minds of doctors. As the project leader of the National Precision Medicine Key R&D Project, Professor Yu Yingyan is currently popularizing and interpreting new technologies, new methods, and test report terminology in the field of precision medicine for clinicians from the grassroots level. At present, the "omics" technology applied in the detection of tumors and other polygenic diseases is very different from the traditional hospital diagnostic methods in terms of test instruments, test methods and analytical report terms. If these two fields are employed The "language" of the staff is not open, even if the high cost of testing is spent, the rich genomics information doctors can't realize the transformation to clinical application. She said, “It takes a process for peers to form a consensus on cognition. The detection of genomics needs support from new technologies and high funds. It is still difficult to popularize and needs a slow transition.â€
Lack of standards: data quality impact report accuracy
Researcher Wang Youchun, deputy dean of the China Food and Drug Administration Research Institute, used the "five-plus" to indicate the difficulty of the next-generation gene sequencing technology toward standardization and application. “Compared with traditional diagnostic techniques, next-generation gene sequencing technology has many targets, high throughput, large amount of data, many analysis processes, and many quality control parameters.†This means that it is difficult to use “smooth uniformity†for each test procedure. of.
Wang Youchun briefly explained the content of sequencing technology: "The diagnosis of next-generation gene sequencing consists of laboratory operations and bioinformatics analysis. The experimental operation includes nucleic acid extraction, target sequence amplification or capture, and informatics analysis includes reading data and filtering. Data, stitching sequences, alignment interpretation, and results reporting."
Due to the complexity of sequencing, there are many challenges to its quality assessment. In addition, compared to traditional diagnostic techniques, the bioinformatics analysis part of sequencing technology is unprecedented, which requires the establishment of new field standards, such as the establishment of digital reference products, including standard sequences or standard databases composed of them. Wang Youchun said, "When standards are established to guide, companies will know how to produce such reagents and promote the standardization of the industry."
Due to the lack of standards, China is currently worried about the quality of genetic testing data. After discussing cooperation with domestic bio-enterprises, Chu Wenjiang said that domestic data processing is far from enough. If the data is wrong, the later analysis and results are a waste of time.
Some people in the industry believe that the second-generation sequencing test is difficult to analyze. Chu Wenjiang said that this is correct on the academic level. But at the application level, everyone's analysis methods are basically the same, and the databases used can complement each other. On this basis, the quality of the test data is more important. It is not only the difference point of the breakthrough, but also directly affects the accuracy of the later report. The so-called "missing a thousand miles", which may be just a few base pairs.
Calling for regulation: guaranteeing that science projects will eventually win
“Strict supervision seems to hinder innovation, but it can guarantee that truly scientific projects will eventually win.†Chu Wenjiang believes that China’s regulatory and industry standards are relatively loose, and early development is rapid, but it needs to be in a certain period of time. To bring order out of chaos, we must prevent medical innovation from being kidnapped by the market.
According to the results of the National Quality Assessment Report for the Second Generation Sequencing Laboratory at the end of 2015, 55% of the laboratories were unqualified, and even 22% of the laboratories actually got 0 points. A sample blindness test recently conducted by the China Food and Drug Administration showed that the results of the same sample given by the four domestic sequencing companies were not consistent. Chu Wenjiang believes that China's current genetic testing has not yet matured a complete quality supervision system, which is reflected in the accuracy of the data. The United States mobilizes federal government levels such as the US Food and Drug Administration and the US federal health insurance and medical assistance service centers, and state-level public health departments, as well as industry associations, to conduct multiple quality standards and regulations.
Similar to Chu Wenjiang's point of view, Liu Donglai of China Food and Drug Control Research Institute and other authors have written a review of the US regulatory path for laboratory research and development of diagnostic reagents. The article pointed out that medical institutions have not been explicitly regulated before, which directly led to the genetic testing market. All kinds of chaos can not protect the vital interests of consumers or patients, and can not really promote technological innovation and industry development.
The questions that need to be answered by the supervision include: what qualifications the tester possesses, what quality standards are used, and whether the proficiency tests are conducted regularly. Chu Wenjiang believes that these are the concerns of patients.
In July 2015, the Health and Health Commission issued guidelines such as the "Guidelines for the Application of Sequencing Techniques for Individualized Medical Testing (Trial)" to further standardize the management of genetic testing in clinical laboratories. With the recent development, medical institutions can gradually commission independent medical test laboratories, pathological diagnosis centers, medical imaging diagnostic centers and other third-party services. Such measures have further improved the homogenization of services and further tested the government departments. Regulatory power and wisdom.
More and more independent laboratories and companies are conducting research and development of related technologies, which has led to the expansion of the scope of supervision. This is also the problem that the United States has faced before. How to deal with it? The test of regulators is still going on. (Reporter Zhang Jiaxing)
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