Gene sequencing: data processing and standard issues remain to be solved

2018/09/28 17:19
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[Introduction] At present, China's concept of data industry standards is still very vague, which leads to the lack of uniform rules for scientific research institutions, medical institutions, and enterprises when using genetic data, which also causes the genetic sequencing industry to be mixed. In this case, there is no need to change.
At present, the concept of data industry standards in China is still very vague, which leads to the lack of uniform rules for scientific research institutions, medical institutions and enterprises in the use of genetic data, which also causes the genetic sequencing industry to be mixed. In this case, there is no need to change.
Gene sequencing has long been regarded as a major revolution in the development of life sciences and biotechnology. After experiencing accumulation in previous years, this year's gene sequencing industry seems to see the dawn of the explosion.
Recently, Hunan Province and Guizhou Province have successively issued policies on supporting the application of gene sequencing technology. Guizhou Province proposed that the elderly two-child single-child maternal birth defects genetic screening to enjoy the full free policy. The policy of Hunan Province seems to be more radical. In the future, Hunan Province will use government procurement to carry out and promote genetic disease genetic testing, conduct genetic testing pilots, vigorously promote personalized medicine, and incorporate some genetic testing costs into medical insurance.
However, in the opinion of many experts, despite the booming of gene sequencing, in order to truly break out, “going into the homes of ordinary people”, the processing problems caused by the accumulation of data and industry standards remain to be solved.
Fiery gene sequencing
In 2014, the US local insurance agency Priory Health announced that the company signed an agreement with the gene sequencing test company Foundation Medicine to include the latter's gene sequencing products in the scope of medical insurance. This year, the follow-up of Guizhou, Hunan and other provinces has pushed the sequencing of genes to the forefront.
Why is genetic sequencing so hot?
At the previous Hangzhou Yunqi Conference, Guan Xin, director of the Huada Gene Internet Development Center, gave an example to the reporter of the Chinese Journal of Science and Technology: "According to the existing scientific research, whether people can drink alcohol is related to genes, and can also pass Gene sequencing measures which people can drink and who can't drink."
"This technique is very useful to me. Because I can't drink alcohol. I think it is possible that this will happen in the future. Before someone advises you, you can show him the results of a genetic sequencing and avoid everyone's embarrassment. "Guan Xin smiled. Of course, the application of gene sequencing goes far beyond this. It is its original intention to accurately detect the risk of certain diseases.
As a leading company in domestic gene sequencing, Huada Gene launched the “Millions of families away from genetic birth defects” program in Beijing in 2014. It is expected to significantly reduce the birth defect rate in China through genetic testing technology. The program is the first to focus on rare genetic diseases such as Down's syndrome and mucopolysaccharidosis, ichthyosis, thalassemia, and phenylketonuria. Among them, the genetic detection method of Down's syndrome is called non-invasive prenatal testing, and it is the most mature clinical application of genes.
Li Xia, a doctor of the Institute of Automation of the Chinese Academy of Sciences and founder of Judao Technology, pointed out to the reporter of the Chinese Journal of Science and Technology that with the development of gene sequencing technology, individual health problems, including genetic diseases, can be analyzed. "By analyzing genetic data, we Can know how much future generations will have a disease and how to prevent it from happening."
The fiery heat of genetic sequencing has also brought fire to the entire industry. At present, there are no fewer than hundreds of domestic genetic sequencing companies. With the rapid growth of global precision medical scale, it will also boost the strong rise of gene sequencing.
According to statistics, the global precision medical market is nearly 60 billion US dollars in 2015. It is expected to increase by 15% during the period from 2015 to 2020, which is 3 to 4 times the growth rate of the pharmaceutical industry. In 2013, the size of the genetic sequencing market was about 4.5 billion US dollars. The compound growth rate from 2013 to 2018 is 21.2%, while the domestic compound growth rate from 2012 to 2017 will reach 20% to 25%.
Data bloating calls for increased computing power
While the gene sequencing industry is ushered in the peak of development, the problem of data processing has become increasingly prominent.
Guan Xin said that with the rapid development of medical technologies such as next-generation gene sequencing, bio-mass spectrometry and medical imaging, the big data wave has brought unprecedented opportunities for biomedicine, which will fundamentally change the basic research and medical practice of biomedicine. At the same time, the explosive growth of data in the biomedical field poses new challenges for the storage and analysis of massive data.
"Our understanding of many complex diseases, including the relationship between human expression and genetic data, requires a lot of sample quality to verify, even machine learning is completed. This calls for the involvement of big data technology and cloud computing and artificial intelligence. Said Guan Xin.
Hao Xiangwen, the founder of a vein gene, also pointed out that a human genome consists of a 3 billion base pair genome, and the number of genes capable of encoding a functional protein is about 30,000, but this only accounts for 3% of the entire genome region, and the genome exceeds Functional humans in 90% of the region are still unknown. Therefore, the interpretation of life requires not only continuous innovation in the field of science, but also the support and participation in the field of computing.
Li Xia believes that the so-called gene sequencing is more in the pre-processing stage of genetic data, and has not yet reached the stage of large-scale utilization of genetic data. "After the emergence of large data in the future, it will inevitably require a lot of computing power."
In the view of Qi Qi Nuode's founder Luo Qibin, the genetic information has a lot of redundancy, the analysis technology is difficult, and the data interpretation can't keep up with the bottleneck of the current gene sequencing industry, and this will also spawn a lot of focus on data storage and analysis. , the company that interprets the service.
Luo Qibin told reporters that the solution of the genetic data processing industry is cloud technology services, using the cloud platform operation and maintenance data processing process to achieve efficient automation and low cost of most of the work, and to connect medical health applications. "Cloud technology can solve data storage, data computing and data security issues. Because cloud technology has become a favorite of Internet companies, the future Internet companies embrace the genetic industry just around the corner," said Luo Qibin.
Looking forward to the government setting industry standards
Before the large-scale promotion and commercialization of gene sequencing, there are still many difficult problems to be solved, and industry standardization is a prerequisite.
In the interview, the reporter learned that as an emerging industry, there are many chaos in gene sequencing. Many experts call for relevant departments to intervene early.
"Like a book in the "Decisive of Genes" book, the genetic industry cannot be as lagging behind others as other industries, and must receive social attention and government support." Guan Xin said.
Hao Xiangwen also admitted that the current genetic sequencing market is rather confusing. Some companies claim that a few hundred yuan can help people to sequence, while others cost several thousand yuan or tens of thousands of yuan, leading to cognitive confusion.
“Of course, genetic testing is a broad concept. There are genetic testing packages for a variety of different purposes on the market. The price of each package is different.” Therefore, Hao Xiangwen suggested that government departments collect scientific data, databases, and genetic interpretation. The standardization aspect has been devoted to promoting the healthy development of the entire industry.
"We think that what the government should do is to set the industry standard for data." Li Xia pointed out that the United States is doing a good job in this regard, regardless of medical data or personal data, there are a series of standards to ensure data storage and transmission. , security and normativeness of processing. However, at present, China's concept in this aspect is still very vague, which leads to the lack of uniform rules for scientific research institutions, medical institutions and enterprises in the use of genetic data, and also causes the genetic sequencing industry to be mixed. In this case, there is no need to change.
(Jilin Qijian Biotechnology Co., Ltd.