The real barrier to genetic testing: Big data and high-end talent

Suddenly, as the spring breeze, gene sequencing companies in both China and the United States capital markets have been enthusiastically sought after, perhaps, genetic sequencing is a revolutionary technology, is an untapped blue sea area, but the regulatory, technological progress determines that the development of this area is tortuous forward.

The so-called gene drug refers to two types: one is the use of gene technology production of protein drugs, such as the use of rice production of human serum protein, the other is targeted at the human disease gene fragment targeted drugs, namely personalized drugs. Personalized drugs are "tailored" to individual patients by using patient information, usually genetic or biological characteristics. As early as 2009, a PwC report pointed out that the http://www.aliyun.com/zixun/aggregation/10238.html "> Market value reached 232 billion dollars, It is expected to reach 452 billion dollars by 2015.

The development of new fast and cost-effective DNA sequencing technologies, represented by companies such as Illumina, Life Technologies and Oxford Nanapore, mark the advent of personalized medical care, But each big change will bring about a big shuffle in the industry, with many companies moving fast and others quickly disappearing because their technology is no longer a pioneer in modern technology.

Genetic drugs in the American soil of survival

As America's healthcare budget forces people to use more rational and effective drugs, imagine a scenario where a doctor can take a blood sample and quickly find a drug that matches the patient's genes, but can produce the least amount of side effects, ultimately saving valuable treatment time and reducing costs to the maximum benefit.

Health care costs have exceeded GDP growth for the past 40 years, according to McKinsey. This trend is difficult to continue-payers (insurance companies and Medicare/Medicaid) are increasingly unwilling to pay additional fees. The future health care system will continue to allow payers to have more say. Of course, it is in the premise of cost control and maintenance of high quality of treatment.

A report in the center of Hastings shows that the associated costs of patients with chronic diseases are increasing significantly. The report predicts diabetes, and Alzheimer's outpatient costs will reach $400 billion trillion between 2015 and 2020, so personalised medicines for preventive use will dominate the market to offset the burden on healthcare budgets in the U.S. health care trend.

In this context, personalized medical and genetic testing in the United States quickly found the development of the soil.

Over the past few years, human knowledge and understanding of proteome and metabolic pathways have increased significantly. Medicine has recognized that all solid tumours are different, even if they may be found in organs such as breasts. The ultimate goal of personalized drugs is to use one's genetic information to provide the most effective treatment, thereby improving medical efficiency.

In fact, doctors have been using personalised medicine for quite some time. For example, a patient with a estrogen receptor (ER-positive) expressed in a breast tumor can give an estrogen antagonist drug to block the activity of estrogen-tumor binding. Conversely, if there is no receptor that can be blocked, there is no need to use the drug. It can be seen that personalized drugs not only accelerate processing time, but also may reduce side effects.

Current doctors prescribe that the benefits of treatment outweigh the side effects, but the side effects are disturbing. In the case of more serious illnesses, such as cancer, side effects can be huge. A drug may be the most effective and appropriate, but if the patient cannot tolerate side effects, the treatment must end prematurely. Many times, these negative effects may lurk for a long time.

Genes are DNA sequences that encode proteins, many of which are enzymes that can decompose drugs. If the genetic mutation or single nucleotide polymorphism of the gene fragment of the patient is understood, the physician can screen for the drug's efficacy in lower or higher than normal metabolism to achieve the best drug response. The use of personalized drugs in clinical practice requires a number of bases, including the establishment of large databases of genes and proteins, metabolites, and genetic mutations. Further needs to be found in the interaction of drugs and food with genes and their mutations.

Personalized medical care relies mainly on genomics to predict the drug response of specific patients, and targeted therapies can also fall into this category, because many times the purpose of the drug is to target the physiological characteristics of a particular receptor or pathological tissue. However, genomic, proteome and metabolic groups such as the vast river and sea, it is difficult to obtain and use the use of information methods.

Development and cost of sequencing technology

Lifetech recently released the ion proton gene sequencing technology, which can complete sequencing of the entire human genome in a single day. The price of the machine is 150,000 dollars, the cost of sequencing once is about 1000 dollars, this is a price range acceptable to many people, I believe many domestic people will come in droves. And a private company, Oxford Nanapore, is rolling out new devices that can read DNA directly from the bloodstream and can complete sequencing of the entire human genome within 15 minutes, costing around $1500.

These techniques are obvious breakthroughs that will allow rapid identification of different gene sequences in patients, tumours and other disease states. In the years to come, however, there is a long way to go, and the difficulty lies in the clinical data collected and the clinical effects. China has a large population, and it is a great destination to collect big samples of Chinese hospitals.

"As a doctor and a former molecular genetics researcher, I have been seeing the potential of targeted therapies," says Dr Jonathan Laura, an expert on this. This in my research area-head and neck cancer treatment plays an increasingly important role, usually with targeted synchronous chemotherapy combined with surgery. The realization of the mRNA and protein prediction Matrix has a long way to go, although it can be synthesized for the sequencing results of the clinical use of proteins, now the barrier is specific to the efficacy of the implementation of large-scale clinical trials, China is also a good sample source. ”

Foreign-leading institutions working in this area are aggressively expanding their collaboration with hospitals across China to obtain data on characteristic genes, protein sequences and clinical manifestations. However, if you want to personalize the drug to play in addition to the full potential, like the human exploration of the universe is not marginal, and personal performance is very different, it is difficult to imagine someone to spend a large cost to achieve it. So the more realistic situation is that, through the establishment of large databases, screening the most common human diseases and the corresponding gene fragment and protein sequence, this is the development of personalized drugs the best prospect.

At present, even for quite a long time, the development of sequencing technology is still mainly in the genetic sequencing and mapping analysis of newborn, many students are willing to return to the business.

"Crab eating" doesn't make money.

What about real-world companies? The human Genome Project began in 1990 and has so far been successfully completed. Personalized drug applications and health care should come soon. Unfortunately, it still means mistakes in early investment.

Myriad (MYGN) is a U.S. molecular diagnostics company that specializes in predictive medicine, personalized medicine and clinical drug testing. Among the best known tests are bracanalysis for hereditary breast and ovarian cancers, and colaris for the detection of hereditary colon cancer and many other cancers.

But Myriad has recently been ruled by local courts that the exclusive right to separate BRCA1 and BRCA2 genes does not belong to myriad. So two competitors Ambry and Gene-by-gene also announced that they would provide BRCA genetic tests, including the BART Foundation analysis. Although Myriad has filed patent infringement lawsuits against two companies, there is no doubt that the industry's barriers are falling and that the test of its market leaders will continue to be challenged by rivals. In addition, the Government's move will continue to erode the profits of diagnostic operations based on DNA sequencing.

Although this kind of gene detection technology has been very mature, and widely used, but also gradually show professional and professional certification trend. For example, the recent genetic testing of the buyer's company believes that they will not pay any bracanalysis test costs, unless a committee-certified geneticists to personally test, it must be by an independent professional training of genetics, such as a medical geneticist or consultant and a testing laboratory certified by the American Genetics Commission.

In the United States, there are only 2,700 certified genetic advisers and 1400 accredited geneticists, nearly three-fourths of whom work in hospitals and nearly half work in large academic centers. The company's move means that patients must be tested for academic institutions. At present, some academic centers have announced plans to start BRCA genetic tests. In addition, FDA classifies the molecular Diagnostic test (MDX) as an external diagnostic medical device. These tests require an FDA complex and highly difficult assessment, and the evaluation process requires an expert understanding of the complexity of the test.

Currently, the women's health sector accounts for about 40% per cent of myriad sales. Unfortunately, none of these sales are from certified scientists or consultants. Third-party companies like Connaught once ceased to buy services for BRCA testing of non-certified geneticists. So like myriad companies will be under pressure from the business.

The real barrier is "big database" and high-end talent

It must be admitted that there are still high technical barriers in the industry. In other words, genetic testing is sophisticated, and many laboratories are able to achieve it, but the interpretation of the results is difficult because it relies on databases based on large data.

Myriad, for example, is most proud to have a proprietary database that explains the results of uncertain genetic tests. This barrier and strategic advantage will be significant if other companies are not allowed to use myriad's proprietary database in the BRCA gene test. Of course, this advantage will fade over time, but in any case, it illustrates the central role of the database in gene detection.

The fact that some major multinationals are making genetic testing kits is very convincing, and it is understood that they have begun to focus their future business on genetic informatics, which, although not profitable in the short term, has become an essential part of "industry evolution". Clinical validation takes a lot of time and money, and more extensive validation builds real databases, as these new devices and technologies become cheaper and more usable.

But how it can be turned into biological or clinical results is still very difficult. Moreover, hospital doctors in many countries do not have more genetic and informatics knowledge, and are ignorant of the hereditary code.

(Responsible editor: Mengyishan)