The Prospect of Gene Technology Market

As we all know, genes are closely related to health. "All diseases, except for trauma, are related to genes," said Nobel Laureate Tonegawa Susumu. The human genome was first sequenced (i.e. Human Genome Project -- HGP) in 2003. The whole project took 13 years (with 5 years of planning and start-up beforehand) and cost US$3.8 billion in total. Nowadays, with the development of sequencing technology, the cost of sequencing has been tremendously reduced. Therefore, sequencing technology has gradually entered the lives of ordinary people. Self-cognition of one’s gene is no longer a dream. Genome technology can have huge impacts on individuals and groups as well as life and death by only demonstrating a little bit of power. This is amazing enough!

In 2003, Mr. Lucas Waterman at the age of 25 was diagnosed with leukemia when he was a medical student studying cancer. After Waterman went through chemotherapy, bone marrow transplantation and other treatments, his leukemia could not get cured. After a third attack with rapid deterioration in 2011, Waterman's colleagues at the Genomics Center of University of Washington lent a hand and had him involved in a research project. Over the next few weeks, a genome-sequencing machine and a supercomputer ran around the clock for Waterman. Miracle eventually happened! Through genome-sequencing, the research team discovered the cause of the rapid growth of Wartman's cancer cells and found the medication that could suppress the growth of cancer cells. They eventually saved Waterman from the brink of death.

In 2004, after Steve Jobs, the co-founder of Apple, was diagnosed with pancreatic cancer, doctors declared that his chances of surviving a year was less than 10%. He then spent about US$100,000 on gene sequencing and interpreted all his gene and tumor tissue, from which the unique genetic and molecular characteristics of his tumorigenesis was understood. After that, the medical team developed a treatment for him and chose specific drugs to reduce the movement frequency of cancerous molecules in his cells and successfully extended his life for seven years. If Jobs had had his gene sequenced earlier, we probably would not have lamented the passing of this great soul.

In 2006, Google co-founder Sergey Brin confirmed that he carried the same mutation gene "LRRK2" as his mother through genetic sequencing, which gave him a 55%-75% chance of developing Parkinson's disease. Based on the results of the gene sequencing report, he started to change his lifestyle, including daily workout, drinking green tea and receiving medication treatment, which reduced his risk of Parkinson's disease to 10%.

American Hollywood star Angelina Jolie Voight had her gene testing done in 2013. The results revealed that she had a faulty BRCA1 gene, which would give her an 87% chance of breast cancer and a 50% chance of ovarian cancer. She then decisively chose to have her breast and ovaries removed, thus avoided the risk of cancer.

Looking around us, the birth of new lives brings joy to every family. However, some families are in great distress because of their newborn babies with birth defects or intellectual disabilities. Some illness and disabilities may be with these babies for their entire lives. Moreover, their lives can be taken away in any second. According to the World Health Organization, the birth defects rate is 6.42% in low-income countries, 5.57% in middle-income countries and 4.72% in high-income countries. It is worth mentioning that there are more than 8,000 types of known birth defects, mainly due to gene mutations. Hence, birth defects have become a major public health problem that concerns the whole world. Reducing birth defects rate by effective intervention from genes (the source) has attracted the attention of scientists and public health organizations around the world. Non-invasive prenatal testing has been applied in clinical services. This genetic testing technology only requires the collection of venous blood from pregnant women and then sequence the cell-free DNA fragments (including cell-free fetal DNA) in maternal peripheral plasma by adopting next-generation DNA sequencing technology. The sequencing results can then be analyzed to detect whether the fetus has three common trisomy disorders: Down syndrome (T21), Edwards syndrome (T18) and Patau syndrome (T13). Compared to traditional genetic testing techniques, this non-invasive DNA prenatal testing and diagnosis greatly avoids the risk of miscarriage and infection. According to the clinical trial data in various countries, the detection rate of these three trisomy disorders of fetus is more than 90%. At present, non-invasive DNA prenatal testing technology has been widely used in more than 90 countries around the world.

Looking around the world, almost 100 countries have turned into aging society with an increasing incidence of chronic diseases, such as cancer, gout, diabetes, Parkinson's disease, Alzheimer's disease and cardiovascular disease. According to the latest statistics of the World Health Organization, every year 4 million people die from diabetes; 9.6 million people die from cancer; and more than 15 million people die from cardio-cerebrovascular disease around the world. At present, the precision medical industry, which covers the whole process of early screening, auxiliary diagnosis and targeted therapy, is gradually taking shape. Meanwhile, genomic data from sequencing provide the basis for ancestral analysis, risk assessment for hereditary diseases, and chronic disease prevention that are included in health management are increasingly accepted and popularized by the public.

日月星辰  四海一心  健康领航 科技掘金

What is Genomics

Genomics is an emerging science that has been gradually formed under the influence of the implementation of the human genome project. It is a science that studies the role of the whole genome in life activities as well as its internal laws and the mechanisms that influence the internal and external environment. It utilizes molecular biology technology, computer technology and information network technology to study all the genes in the genome of living organisms. Genomics is the study of the complex life information at the level of whole genome rather than individual genes, so as to understand the laws of life activity. It is closer to the essence and the whole picture of life. Genomic research should include two components: structural genomics which aims at whole genome sequencing, and functional genomics which aims to identify the function of genes and form an important approach to systems biology. It can provide effective diagnosis and treatment for some complex diseases through the site-specific biological information analysis of the whole genome data and functional genome data. For instance, site-specific testing of the "Oncotype DX" genome of women with breast cancer can be used to assess the risk of breast cancer recurrence and the effect of chemotherapy, which helps doctors to obtain more information for personalized treatments. The main tools and methods of genomics include bioinformatics, genetic analysis, gene expression measurement and gene function identification. Genomics is based on gene sequencing and focuses on gene structure and function, so as to reveal the secrets of life from genome big data.

What is Gene Sequencing

Gene sequencing is a new gene detection technology. It can can analyze and measure the full sequence of individual genome from DNA extracted from blood or saliva sample, and predict the probability of diseases as well as the behavior characteristics and rationality of an individual. At present, the most advanced gene Sequencing technology in the world is whole-genome sequencing, which means to sequence the whole genetic information of an organism, including the base pairs of all known genes and unknown functional regions on all nuclear chromosomes, as well as the base pairs of organelle genomes. It is the most comprehensive method to analyze genomes, which can extract life information from the complete set of genetic codes. Compared to traditional gene sequencing (which only sequences the base pairs of one or several genes, or a particular fragment or locus of a particular gene), whole-genome sequencing provides a high-resolution, base-by-base view of the genome. It can capture genetic variation to the maximum extent and achieve the goal of one-time sequencing for lifelong interpretation.

For most patients, more than 80% of serious diseases are "polygenic diseases" which are co-regulated by multiple genes. These include cancer, cardiovascular diseases, type 2 diabetes, gout, Alzheimer's disease, Parkinson's disease, glaucoma, and other chronic diseases. The cause of polygenic diseases is more complex. However, risk prediction of the disease based on whole-genome sequencing results, combined with acquired living environment and habit/behavior, can play a positive role in disease prevention.

The Wide Application of Genetic Data

Look into the future, the massive storage of genetic data and its wide application in the field of wellness are extremely important. In particular, the combination of genomics and emerging IT technologies such as artificial intelligence, cloud computing, big data and block-chain can create huge power. Genetic data will be widely used in areas such as precision medicine, rehabilitation after illness, health management and drug research and development. The wellness industry driven by genetic big data will become an engine of innovation economic growth with infinite potential. 

Genetic Data and Precision Medicine

The concept of precision medicine was proposed by the US National Research Council in 2011 and attracted global attention in 2015 under the promotion of President Barack Hussein Obama. Precision medicine is a customized medical model, also known as personalized medicine, which tailors the best treatments for patients according to individual genetic characteristics, environment and life style, so as to maximize the treatment effect and minimize the side effects. The key part of precision medicine is to provide valuable information on personalized screening, prediction, prevention, treatment and rehabilitation through genomic data analyses on large population cohorts. For example:

● Genetic screening and diagnosis before marriage, pregnancy and prenatal can be used to analyze and evaluate the risk of birth defects of newborn babies, so as to guide high-risk couples to have healthy children;

● Early screening of cancer and risk assessment of chronic diseases susceptibility factors among healthy or high-risk individuals to provide suggestions for individual health management such as diet, medication, exercise and lifestyle, as well as to provide scientific guidance on early prevention and precise treatment for people at risk;

● Genetic screening for suspected cancer patients and patients diagnosed malignant tumor can analyze the etiology and progression of their cancer at the molecular medicine level and provide a scientific basis for personalized cancer treatment;

● Human microbial nucleic acid sequencing and screening can quickly detect bacterial and viral infections and find bacteria and viruses of new diseases, so as to undertake targeted prevention and treatment; PGx detects individual differences in drug-related biomarkers, including the analysis of different responses caused by gene variations related to drug therapy. PGx also guides the selection of drugs, duration and dosage;

● Gene sequencing together with companion diagnosis (CDx) has become a maturing technology. It is recommended by clinical guidelines in many countries for cancer treatment with targeted drugs. With the development of non-invasive ctDNA (circulating tumor DNA) gene sequencing, circulating tumor cell (CTC) and other liquid biopsy technologies, more and more attention has been paid to the huge market potential of its application in cancer treatment effect, prognosis evaluation, preventing/monitoring relapse, and rehabilitation management.

Genetic Data and Rehabilitation

A growing number of studies have shown that treatment most patients receive at hospital is only a part of the whole process of treatment and rehabilitation. Genetic data plays an important role in post-illness rehabilitation programs. For example:

● The quality of life and survival rate of cancer patients are determined by whether they accept rehabilitation management after professional clinical treatment. The rehabilitation management includes physical therapy, immune function reconstruction, and counseling for fear and anxiety. Genetic data analysis of tumor patients can be used to formulate comprehensive rehabilitation plans for patients, covering their medication, diet, exercise, lifestyle and mentality.

● Cerebral stroke (stroke) is the second leading cause of death and the third major cause of disability in the world. The rehabilitation treatment of stroke recovery period is based on the plasticity of the patient's own nerves. Various means are used to maximize their self-repairing potential to accelerate functional recovery. As the basis of rehabilitation and the internal cause of nerve repair, neuroplasticity is one of the main aspects of precision rehabilitation.

Genetic Data and Health Management

Genetic data has long been inextricably linked to the health of human life across the world. With the continuous improvement of people's living standard, health management services are valued by countries all over the world. Health management is a big area/category. In theory, it should cover every single person. If medical services are only for patients, then health management is a universal service needed by both patients and healthy people. The analysis of individual genetic data can not only provide precision medical services for patients, but also provide precision health management services for sub-health and healthy people. For example:

● Genetic analysis of nutrient metabolism gene can reveal which nutrients are well absorbed and which nutrients are poorly absorbed, so as to guide people keep a proper diet;

● Genetic analysis of food intolerance can reveal which food is edible and which is not, so as to guide people to avoid the risk of disease and even death from eating the wrong food;

● Genetic analysis of body constitution can reveal the tolerance for staying up late and exercising, so as to guide people to sleep effectively and recover physical strength quickly, and to establish good habits;

● The analysis of obesity gene can reveal which food is easy for an individual to gain weight and which is not; what kind of exercise is good for weight lost i, so as to guide people to lose weight in the most effective way;

● Genetic analysis of tobacco and alcohol damage can reveal how much damage that alcohol and smoking can do to the body, so as to avoid the harm caused by alcohol and smoking;

● The genetic analysis of skin can reveal the elasticity index, wrinkle index, pigment index, inflammation index and antioxidant index of one’s skin, so as to guide people to choose the most effective beauty treatment and products;

● Genetic analysis can reveal the risk of disease from inherited mutated genes, so as to guide people to reduce or avoid the risk by changing their lifestyle and taking prevention measures;

● The analysis of longevity genes can reveal the factors that can affect the life span of each person, so as to take measures to extend the life cycle.

Genetic Data and the Research and Development of New Drugs

Scientists have found through instrument measurement that more than 99% of the human genes are the same, and that the genes differ from each other at the locus of variation, which means the amino acid on a certain location of a chromosome is different. For example, for one person the amino acid might be A and for a different person it might be B. However, the basic functions of the proteins (or enzymes) they encode are the same. Therefore, in the field of new drug research and development, there are many cases where researchers developed innovative drugs by analyzing a large number of abnormal genes.

In 1959, two researchers in Philadelphia accidentally discovered that chromosome 22 was much shorter in patients with chronic myelocytic leukemia (CML) than that of healthy people. This discovery challenged the prevailing view that cancer is caused by viruses. In the following years, through continuous studies, researchers eventually proved that the mechanism of CML is that the combination of ABL gene at chromosome 9 breakpoint and BCR gene at chromosome 22 breakpoint after chromosomal translocation causes kinase that promotes cell division to remain highly active, resulting in uncontrolled cell division and eventually leading to cancer. Based on this mechanism, through repeat experiments, scientists developed the first targeted drug Glivec. It can achieve amazing effects in treating CML by inhibiting the active point of BCR-ABL fusion protein.

In January 2015, Genentech, an US biotechnology company, and 23andMe, a US gene-sequencing company, agreed on a US$60 million deal to share genome information of 3,000 people with Parkinson's disease (PD). In September 2017, a research team formed by Genentech, 23andMe, the National Institute on Aging and Data Tecnica International, a start-up data science consulting company, published their latest findings in Nature Genetics. Seventeen new PD-related risk loci were identified through genome-wide association analysis (GWAS) and meta-analysis. This discovery by Genentech and other teams can potentially have a major impact on the research and development of drugs to treat PD. Once the drug hits the market, it could generate billions of dollars

The Prospect of Gene Technology Market

The development of gene technology is like a continuous epic. The unremitting exploration by scientists of different generations, for the interpretation of the human gene "code" created one miracle after another.

● In 1865, Gregor Johann Mendel, an Austrian geneticist, raised the idea that biological traits are controlled by genetic factors, which initiated the research on genes;

● In 1909, Wilhelm Ludwig Johansen, a Danish geneticist, formally brought up the concept of "gene" in his book "Principles of Precision Genetics";

● In 1957, Watson and Crick proposed the double helix structure of DNA, which helped people to understand that genes are essentially pieces of DNA with genetic effects;

● In 1986, American geneticist Victor Almon McKusick proposed to study genetics from the level of the whole genome, which is called "genomics".

● On 1 October 1990, with the approval of the US Congress, the US officially launched the human genome project, which was later joined by scientists from Britain, France, Germany, Japan and China;

● In 1998, China established the Institute of Genetics of the Chinese Academy of Sciences as well as the Chinese National Human Genome Center in Beijing to sequence about 30Mb of the short arm of human Chromosome 3, which takes up about 1% of the entire human genome

● On 14 April 2003, scientists from China, the US, the United Kingdom, Germany, France and Japan jointly announced the successful mapping of the human genome sequence and the realization of all the goals of the human genome project. It was completed two years ahead of schedule, marking the beginning of a worldwide development of gene technology.

In the 21st century, gene technology has been predicted by many economists to be one of the most promising industries in the world. It has been supported by governments all over the world and has gradually become the pillar industry of economic life. The subdivision of gene technology covers a wide range, including gene sequencing, gene decoding, data storage, genomics, drug research and development, sequencing instruments, diagnostic reagents, gene therapy, gene synthesis, gene editing, and transgene. At present, the gene sequencing industry is developing at the fastest speed in the field of gene technology, and a lot of technologies have been transferred from scientific research services to medical clinical services. The rapid development of gene sequencing industry will promote the rise of genetic data storage and application industry, promote the progress of genomics, and hence promote the overall outbreak of gene technology industry.

In recent years, the market scale of gene sequencing industry continues to expand. It has grown from $3.5 billion in 2012 to $13.2 billion in 2018, with a compound growth rate of 20%. The global market for gene sequencing is expected to reach $16 billion by 2020. It is expected that the global cost of gene sequencing will fall further in the future, but the scale of services will increase significantly compared to the past five years. The whole industry will continue to grow at a speed of around 18% in the next five years.

The statistics of cancer patients shows that one in eight people die of cancer averagely. By 2020, global spending on cancer is expected to exceed US$150 billion. It is estimated that there will be 22 million new cancer cases worldwide each year over the next 20 years with the expense of cancer treatment of over US$800 billion. At the same time, gene sequencing plays an important role in early screening, molecular diagnosis, concomitant diagnosis, targeted therapy and postoperative rehabilitation in the treatment of tumor diseases. A multi-billion-dollar market caused by gene sequencing in oncology alone is about to take off at any time.

Across the world, from Silicon Valley to the Gold Coast, from the Eastern to the Western Hemisphere, the biotechnology industry is emerging as a promising “blue ocean market”. Scientists believe that a database of 100,000 entire human genome would be a valuable resource for precision medicine, biopharmaceutical and scientific research with unimaginable scientific research value. Life economy has been mentioned many times in numerous global economic development outlook reports, and its core is an innovative economy based on the acquisition of life big data, information transmission and cloud computing. The life science and health industry driven by gene big data will see a blowout development. Gene technology has a huge application market in life economy which is worth $10 trillion.


What is Holding the Gene Industry Back

Gene technologies have brought profound changes in life science and health care industries. However, we must realize that many issues need to be addressed, such as data sovereignty, data security, privacy protection, cost and efficiency, legal compliance, etc. The development of gene technology will be seriously hindered if these problems cannot be solved properly.

Confirmation of the Data ownership

It is common in the gene technology industry that the individual’s data collected during gene sequencing, treatment and health management services by medical institutions are often used for joint scientific research and new drug development by pharmaceutical companies without being known by the individual. Genetic data, as the most important information of each individual, should be owned by themselves. Any organization that uses personal genetic data should obtain the consent or authorization of the data subject. In fact, most institutions use the data without the consent or authorization of the data subject, or use data for multiple times only through one single authorization. It is difficult for each data subject to know who is using their data and for what purpose with full transparency. Hence, it is difficult to maintain their rights. In addition, the data subject ought to enjoy the benefit distribution generated by the use of the data, but it is difficult to obtain this benefit in reality. Most people are reluctant to contribute genetic data because it is difficult for individuals to effectively defend their legal rights. However, the richness and comprehensiveness of genetic data samples is the basis for the development of genetic technology.

Data Security

Most existing genetic data storage modes are centralized and controlled by data collectors. This mode could result in potential risk of network hardware failure and security vulnerabilities of single-node systems. Given the high sensitivity and value of personal genetic and medical data, the consequences could be catastrophic once data leakage occurs.

Privacy Protection

Most institutions obtain data authorization by non-transparent informed consent, or using unrecognizable desensitized anonymous data for analysis and application. However, since there is no data encryption protection, personal information may still be re-identified in the process of data use and also may be stolen by hackers around the world through illegal techniques. This is detrimental to the protection of personal data security and privacy.

Cost and Efficiency

The generation, processing, analysis, sharing and use of gene sequencing data involves massive data storage, computing and distribution. The current centralized storage method is inefficient in data sharing and cannot support the future collaborations for large-scale genomics projects. A terabyte of data, for example, would require at least 24 hours of transmission with constantly available 100 megabytes of full bandwidth, which is not feasible in reality. It is worth mentioning that the European Institute of Bioinformatics (EBI), the EU's largest genome database, had already more than 2PB (1PB=1024TB) of genetic data in 2013. Therefore, network transmission efficiency itself is a formidable challenge for the needs of genetic big data computing analysis.

Data sharing through file-based transfer protocol requires a large amount of data to be downloaded to the local hard disk via the Internet for further use. This process will not only consume the high cost network bandwidth and storage space, but also cause excessive data redundancy. Based on current market price for centralized cloud storage, the cost of storing genomics data ranges from $1 billion (cold data) to $20 billion (hot data) a year -- a huge expense that will increase exponentially as genetic data increases.

Legal Compliance

Human genome data, especially whole-genome sequencing data, are highly sensitive and contain a large amount of multidimensional sensitive information. Therefore, governments of various countries around the world have actively formulated data protection regulations to protect the privacy and security of personal genetic data. For example, US’s Health Information Technology for Economic and Clinical Health (HITECH) Act requires data storing party to implement physical, administrative and technical solutions to protect biological data from leakage. On 25 May 2018, the European Union fully implemented the General Data Protection Regulation (GDPR), which is called "the strictest data security regulation in history". It set out more strict provisions on the scope of data protection and the enhancement of rights to best protect personal data privacy.

The principle of protecting personal privacy is a universal consensus worldwide. However, a balance between technological progress and ethics need to be identified. It will be a necessary process for the development of global gene technology.

What Problems can Block-chain Solve

Block-chain technology provides a machine trust in the form of "machine code, formal proof, decentralization, distribution and information system", which no longer needs to rely on third-party centralized organizations. On the basis of the machine trust people can cooperate and trade with each other even when they don't know each other. Block-chain technology is a combined innovation, integrating distributed system, point-to-point transmission, consensus mechanism, encryption algorithm, smart contract and other technologies. It can solve problems of incentive, efficiency, cost, security and compliance in a proper way. In addition, each participant can receive incentives according to their contribution in the block-chain, which fully reflects the creation, measurement and distribution of value. This will provide a strong driving force for the development of the whole ecosystem.

Relying on the powerful technical functions of block-chain, GTA overturns the traditional business model of gene technology. It uses cryptography technology to confirm the sovereignty of individual genetic data to protect the privacy of personal information; it uses distributed storage technology to realize the decentralized distributed storage in host countries; it uses private trusted computing technology to provide data computing and analysis services to third-party organizations to ensure that the personal genetic data is legally used under the explicit authorization of the data subject; it uses point-to-point transmission and cloud computing technology to reduce data transmission cost and improve computing efficiency; it uses the economic incentive mechanism to promote a large scale of active participation and cooperation of individual users, marketers, gene sequencing institutions, data storage institutions and data use institutions, so as to quickly gather a large number of genetic data; it then realizes the commercial value by the wide application of genetic big data in the field of life science and health.

Catching the trend of the times and economy, GTA gene chain completely solves the pain points of the development of the science and technology by using block chain technology. GTA will rapidly expand the scale of genetic data storage with unstoppable force through its innovative business model and unique incentive mechanism. This will bring hope to the rapid development of gene technology.