Release date: 2015-02-03

The story about gene sequencing is usually talked about from the Human Genome Project, which was launched in the 1990s. The project took 15 years and cost $3 billion. It was jointly attended by scientists from six countries and eventually completed the human's 3 billion base measurements. The completion of the Human Genome Project has really opened the door to the era of personal genetic sequencing. Various applications such as health testing, prenatal testing, and individualized diagnosis and treatment brought about by personal genetic sequencing are quietly coming into our lives.

Personal gene based health assessment

Genes are the basic unit of life inheritance, and genomes are the carriers of all genes. They are the sum of all the genetic information carried on DNA molecules, and contain the mysteries of life. In science fiction movies, there is often such a story: "A person knows all his genetic information when he is born, and he is always mastered by illness and death. On the other hand, you can use this genetic information to 'screen' the best offspring of the trait, and even customize the things of the offspring. They all rely on a complete understanding of the personal genomic information. "With $3 billion for a person's genomic genetic information, even the world's richest man may not be able to get the money. But what about $999? What about $99?

A company called 23andMe ended up with a personal genetic testing service for $99. The company's genetic testing services are capable of detecting approximately 1 million genetic loci for genetic diseases, disease risk and other factors. The service can get more than 200 test results, including the genetic factors of drinking red face, the risk of mutation in cancer. The US Food and Drug Administration (FDA) is concerned that customers may be misled due to the negative impact of genetic testing uncertainty, thus suspending 23andme's business. However, 23andMe is still building a genetic database of 800,000 people. Just in early 2015, 23andMe announced two cooperation deals: the first was to cooperate with Roche's Genentech; the second was to sign a cooperation agreement with pharmaceutical giant Pfizer. In addition to these two collaborations, 23andMe has also reached a cooperation intention with 12 other organizations based on the huge database owned by 23andMe.

BaseHealth, a company that works with Illumina (the CEO of the company, Jorge Velarde, who served as vice president of business development at Illumina), is seen as the second generation of genetic health companies that combine DNA data with traditional health indicators such as diet, exercise, and family health. History and so on are combined. The company does not directly target consumers, but uses B2B to work with large pharmaceutical groups and medical institutions to try to tell the doctor when the patient first visits that the patient may be at risk. For example, if a person is at risk for type 2 diabetes, his lifestyle and a range of traditional medical indicators will be presented to the doctor so that the doctors can understand the basics.

The above is just two of the personal genetic testing startups. There are also deCODE genetics, Navigenics and other pioneers in this field. DeCODE genetics, Navigenics and 23andme all detect only a small part of the human genome, while Knome in the United States completes the real sequencing of individual genome-wide sequences at a cost of $125,000/person.

In the country, there have also been some genetic testing companies for individuals, such as the 360 ​​gene, trying to localize genetic testing. The whole process of genetic testing is very simple, it takes only 3-4 weeks to collect the test report from saliva. At present, the price of domestic personal genetic testing products ranges from several hundred to one thousand yuan, and the price has approached 23andMe.

Non-invasive prenatal testing (NIPT) is in action

The market for non-invasive prenatal testing will be broad, and see how many pregnant women know each year. In China, this number is close to 10 million!

In the United States, there are four major companies that provide non-invasive prenatal testing services: Sequenom, Verinata Health (acquired by Illumina in 2013), Ariosa Diagnostics and Natera. Sequenom and Verinata both use high-throughput gene sequencing methods for testing, and there are still infringement claims and other disputes between the two companies. At the end of 2014, Illumina and Sequenom reached an agreement, and each party will own its own patent and will share the profits brought by the patent. However, Ariosa Diagnostics filed a number of lawsuits against Illumina that focused primarily on patent infringement. The US Patent and Trademark Office, the Patent Approval and Appeals Board announced that it had cancelled 13 patents held by Illumina. However, Illumina has abandoned the NIPT retail business and is focusing on working with other companies.

In China, on February 17, last year, the National Health and Family Commission called for the clinical application of gene sequencing. The NIPT market, which was originally dominated by Huada Gene and Berry and Kang, has also changed. On June 30, 2014, the State Food and Drug Administration (CFDA) approved the high-throughput gene sequencer and diagnostic products declared by Huada Gene. Moreover, the non-invasive prenatal genetic testing technology (NIFTY?) independently developed by Huada Gene has obtained the invention patent granted by the European Patent Office, and has been in effect in 15 member states including the United Kingdom and Belgium. Became the first non-invasive prenatal genetic testing patent approved in Europe. At the same time, the State Intellectual Property Office also issued a “Notice of Granting a Patent Right” to Huada Gene.

On November 4, 2014, CFDA again approved the DAA gene gene sequencer and fetal chromosomal aneuploidy 21 trisomy, 18 trisomy and trisomy 13 (semiconductor sequencing) medical device registration. Its approved genetic sequencer DA Proton is a sequencer that has been licensed by Life Technologies. Previously, BGISEQ1000 of BGI was based on the sequencing platform of Complete Genomics, which was acquired by it.

However, the situation of the two companies' monopoly did not last long. At the end of 2014, the Medical and Health Administration of the National Health and Family Planning Commission issued a notice on the pilot work of clinical application of high-throughput gene sequencing technology, and announced the first batch of clinical application pilot units for high-throughput sequencing technology in Beiguang and Guangxi. . The CCP was informed of three majors (genetic disease diagnosis, prenatal screening and diagnosis, preimplantation embryo genetic diagnosis), and approved seven pilot institutions in Beiguang, including Anuoyouda, Boao, and Hua. Third-party inspection agencies, including Dae and Daan genes.

In less than a month, the Health and Welfare Division of the Health and Family Planning Commission issued the “Notice on the pilot work of prenatal diagnostic institutions for high-throughput gene sequencing prenatal screening and diagnostic clinical application”, which approved 109 medical institutions to carry out high Flux Gene Sequencing Prenatal Screening and Diagnosis (NIPT) Clinical Pilot. This is far greater than the number of NITP third-party testing organizations announced by the Medical and Hospital Authority, which fully affirmed the important role of medical institutions in the future clinical application of high-throughput gene sequencing.

In China, non-invasive prenatal testing in some areas may even be subsidized by the government! I can't help but think of Liang Qiqi, who has been pregnant for many months, accepting a non-invasive prenatal DNA test by a company and becoming the first spokesperson.

Personal genetic testing promotes individualized diagnosis and treatment

In 2013, the international Hollywood famous movie star Angelina? Angelina Jolie learned that she carried the BRCA1 gene mutation after her personal genetic testing. By combining other factors, the risk of breast cancer is as high as 87%. In order to avoid breast cancer, the sexy actress has undergone bilateral mastectomy, reducing her breast cancer risk from 87% to less than 5%. This article has caused a sensation around the world and has prompted more women to understand and conduct genetic testing. This phenomenon is called the "Angelina effect."

Nowadays, the individualized medical field promoted by personal genetic sequencing, including detection and treatment of cancer and rare diseases, has become a battleground for military strategists.

Throughout the year of 2014, Roche has almost created the “Roman Empire” of the sequencing industry through the integration of the upstream and downstream of the industry chain. Its acquired companies not only have reagents, sequencers, but also data computing platforms, as well as various clinical Application service companies, etc.! In the first half of last year, Roche spent $450 million to acquire molecular diagnostics company IQuum. Since then, it has invested $350 million to acquire Genia Technologies, which is developing a nanopore sequencing platform. In October of the same year, it acquired primer-based targeting from Abvitro. Enrichment technology for NGS sample preparation technology; by December, Roche acquired Ariosa Diagnostics and genomic analysis company Bina Technologies.

In early 2015, Roche spent $1.03 billion to buy a 56.3% stake in Foundation Medicine. Since its inception, Foundation Medicine has been working on the development of tumor genetic testing technology, and Steve Jobs has also accepted the company's genetic testing. At the time, Jobs spent about $100,000 on the test, but it ultimately failed to save his life. However, Jobs believes that such a test is very meaningful. In an interview, he said: "I am either the first person to beat cancer in this way, or the last person to die of cancer."

At home, in early 2015, WuXi PharmaTech announced that it will acquire NextCODE Health for US$65 million (nearly RMB 400 million) and plans to merge its genomic center and NextCODE to form a new company, named WuXi NextCODE Genomics. The company headquarters will be located in Shanghai. The company is the first and only second-generation sequencing laboratory in the United States to receive CLIA certification in the United States, and can issue clinical diagnostic books for US patients. NextCODE Health was founded in October 2013 and was founded by former deCODE genetics executives Gulcher and Smarason. The company has developed the world's most mature gene sequencing analysis platform and the most efficient database, controlling more than 300,000 human genome-wide data, enabling clinicians and researchers worldwide to maximize the use of high-throughput sequencing technology. To better diagnose and treat diseases.

Whether it's personal health testing, non-invasive prenatal testing, or individualized disease diagnosis and treatment, these applications, driven by individual genetic sequencing, are gradually penetrating into our lives. The gene sequencing industry has already started the trend of the original from the fire of the stars. The scientific research project once known as the frontier high-end has begun to enter the healthy life of ordinary people.

Source: Sequencing China

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