The real barriers to genetic testing: big data and high-end talent

Source: Zhang Shangbin / securities market weekly on July 16, 2014 suddenly came like a spring breeze overnight Gene sequencing companies have been enthusiastically sought after in the capital markets of China and the United States Perhaps, gene sequencing is a revolutionary technology and an undeveloped blue ocean field, but the development of this field is determined by the progress of supervision and technology The so-called gene drugs refer to two categories: one is the protein drugs produced by gene technology, such as human serum protein produced by rice; the other is the targeted drugs for the gene fragments of human disease, namely personalized drugs Personalized medicine is a kind of medicine that uses patient information, usually genetic or biological characteristics, to "tailor" a single patient As early as 2009, a PwC report pointed out that the market value of this area of linking reached US $232 billion, and it is expected to reach US $452 billion by 2015 New fast and cost-effective DNA represented at the highest level by Illumina, life technologies (life) and Oxford nanapre The development of sequencing technology indicates that the era of personalized medical treatment has come, but every major change will bring a big reshuffle of the industry, many companies will move forward rapidly, while others will soon die out, because their technology is no longer the pioneer of modern technology The survival soil of gene drugs in the United States because the medical and health care budget in the United States forces people to use more reasonable and effective drugs Imagine such a scenario, a doctor can take blood samples and quickly find drugs that match the patient's genes, but can produce the least amount of side effects, ultimately saving valuable treatment time and reducing costs to achieve the maximum benefit According to McKinsey, healthcare spending has outpaced GDP growth for the past 40 years And this trend is hard to continue - payers (insurers and Medicare / Medicaid) are increasingly reluctant to pay extra The future healthcare system will continue to allow payers to have more say Of course, under the premise of cost control and maintaining the high quality of treatment A report from the Hastings Center shows that the costs associated with chronic disease are increasing significantly The report predicts that diabetes, and Alzheimer's outpatient costs, will reach $400 billion between 2015 and 2020, so in terms of healthcare reform trends in the United States, personalized drugs for preventive use will dominate the market to offset the burden of healthcare budgets In this context, personalized medicine and gene detection have found a rapid development soil in the United States In the past few years, the understanding of proteome and metabolic pathway has been greatly increased Medicine has recognized that all solid tumors are different, even if they may be found in organs like breasts The ultimate goal of personalized medicine is to use a person's genetic information to provide the most effective treatment, so as to improve medical efficiency In fact, doctors have been using personalized drugs for quite a long time For example, patients with estrogen receptor (ER positive) expressed in breast tumors may be given an estrogen antagonist drug to block the activity of estrogen binding to the tumor On the contrary, if there is no blockable receptor, there is no need to use the drug It can be seen that personalized drugs not only accelerate the processing time, but also may reduce the side effects At present, doctors prescribe drugs to ensure that the benefits of treatment will outweigh the side effects However, the side effects are also disturbing In the case of more serious diseases, such as cancer, side effects can be huge A drug may be the most effective and appropriate, but if a patient cannot tolerate side effects, treatment must be terminated early In many cases, these negative effects may be latent for a long time Genes are DNA sequences, which encode proteins, many of which are enzymes that can break down drugs If we know the genetic mutation or single nucleotide polymorphism of the patient's gene fragment, doctors can screen the drug efficacy under the condition of low or higher than normal metabolism, and achieve the best drug response The clinical use of personalized drug methods requires many aspects of foundation, including the establishment of large databases of genes and proteins, metabolites and gene mutations Furthermore, it is necessary to find the interaction between drugs and food, genes and their mutations Personalized medicine mainly relies on the research of genomics to predict the drug response of specific patients Targeted therapy drugs can also belong to this category, because many times the purpose of drugs is to target a specific receptor or the physiological characteristics of pathological tissue However, genome, proteome and metabonomics are so vast that it is difficult to obtain and use information The development and cost of sequencing technology lifetech recently announced the ion proton gene sequencing technology, which can complete the whole human genome sequencing in one day The price of the machine is 150000 US dollars, and the cost of sequencing once is about 1000 US dollars This is a price range that many people can accept I believe many domestic people will flock here The private company, Oxford nanapre, is launching a new device that can read the size of DNA directly from the blood and complete the sequencing of the entire human genome in 15 minutes at a cost of about $1500 These techniques are an obvious breakthrough that will allow rapid recognition of gene sequences in different patient, tumor and other disease states However, in the next few years, even with these breakthroughs, there is still a long way to go The difficulty lies in the data collected and the clinical effect China has a large population Hospitals in China are a very good destination to collect large samples Jonathan, an expert on this? "As a doctor and former molecular genetics researcher, I have always seen the potential of targeted therapeutic drugs," said Dr Laura This is playing a more and more important role in my research field - the treatment of head and neck cancer, which is usually targeted synchronous chemotherapy combined with surgery There is a long way to go to realize the prediction matrix of mRNA and protein Although it can synthesize the protein for clinical use according to the sequencing results, the current obstacle is the implementation of large-scale clinical trials of specific drug efficacy, and China is also a good sample source " Foreign leading institutions committed to this field are vigorously expanding cooperation with hospitals across China to obtain data on characteristic genes, protein sequences and clinical manifestations However, if we want to realize the full potential of personalized drugs, it's just as boundless as human exploration of the universe, and personal performance is very different, it's hard to imagine that someone will spend a lot of money to achieve it So the more realistic situation is that through the establishment of a large database, the most common human diseases and the corresponding gene fragments and protein sequences are screened out, which is the best prospect of personalized drug development At present, even for quite a long time, the application of sequencing technology is still mainly based on the gene sequencing and map analysis of newborns, and many overseas students are willing to return to China to start their own businesses First "eat crabs" do not make money in reality, how about related companies? The human genome project started in 1990 and has been completed successfully so far Personalized drug use and healthcare should come soon But unfortunately, it still means mistakes early in the investment Myriad (mygn) is a molecular diagnosis company in the United States, mainly engaged in predictive medicine, personalized medicine and clinical drug testing The most well-known tests include bracanalysis for hereditary breast and ovarian cancer, and Claris for hereditary colon and many other cancers However, myriad was recently ruled by the local court that the exclusive right to separate BRCA1 and BRCA2 genes does not belong to myriad So ambry and gene by gene, two competitors, also announced that they would provide BRCA gene testing, including Bart fund analysis Although myriad has filed patent infringement lawsuits against the two companies, there is no doubt that the threshold for the industry is falling, and the testing of its market leaders will continue to be challenged by competitors In addition, government initiatives will continue to erode the profits of DNA sequencing based diagnostics Although this kind of gene detection technology has been very mature and widely used, it also gradually shows the trend of specialization and professional certification For example, Xinnuo, a buyer company of gene testing, recently decided that they would not pay for any BrAC analysis test unless it was personally tested by a committee certified geneticist, and it must be an independent professional trained geneticist, such as a medical geneticist or consultant, with a testing laboratory certified by the American genetic Commission In the United States, there are only 2700 certified genetic consultants and 1400 certified geneticists, nearly three-quarters of whom work in hospitals and nearly half in large academic centers The company's move means that patients must turn to academic institutions for testing At present, some academic centers have announced plans to start the internal testing of BRCA gene In addition, FDA classifies mdx as an external diagnostic medical device These tests need to pass FDA's complex and difficult assessment, in which experts need to understand the complexity of the test Currently, the women's health sector accounts for about 40% of myriad's sales Unfortunately, none of these sales come from heritage certified geneticists or consultants Third party companies such as Cino stop buying services from BRCA tests of non certified geneticists So companies like myriad will be under pressure from this business The real barrier is "big database" and high-end talents must admit that there are still high technical barriers in this industry In other words, gene testing is very mature and can be implemented in many laboratories However, the interpretation of test results is very difficult because it depends on the database based on big data Myriad, for example, is most proud to have a proprietary database that explains uncertain genetic test results If other companies are not allowed to use myriad's private database in BRCA genetic testing, this barrier and strategic advantage will be very significant Of course, this advantage will gradually weaken over time, but in any case, it shows the core role of database in gene detection The fact that some multinational companies mainly engaged in gene detection kits are transforming is very convincing It is reported that they have begun to focus on the future business of gene informatics Although they haven't brought any profits in a short period of time, they have become a necessary link in the "industry evolution" Clinical validation is taking a lot of time and money, and more extensive validation can build a real database, because these new devices and new technologies become cheaper and available But how to translate it into biological or clinical results is still difficult Moreover, doctors in hospitals in many countries do not have much knowledge of heredity and Informatics, and they know nothing about genetic code.