The Global Evolution of Genetic Testing: From Science Fiction to Everyday Life

Stories about gene sequencing typically begin with the Human Genome Project, which was launched in the 1990s. This endeavor spanned 15 years, cost $3 billion, and involved scientists from six countries, ultimately achieving the sequencing of the three billion base pairs in the human genome. The completion of the Human Genome Project truly ushered in the era of personal genomic sequencing. Various applications derived from personal genomic sequencing, such as health screening, non-invasive prenatal testing, and personalized diagnosis and treatment, are quietly becoming part of our daily lives.

Personalized Genetic-Based Health Assessment

Genes are the fundamental units of heredity, while the genome serves as the carrier of all genes, representing the sum total of genetic information encoded in DNA molecules and holding the secrets of life. Science fiction films often feature plots such as: “From birth, individuals have access to their complete genetic information, with full knowledge of their health, aging, disease susceptibility, and mortality. Furthermore, this genetic data could be used to ‘select’ offspring with the most desirable traits, or even enable the customization of children, all contingent upon a comprehensive understanding of personal genomic information.” Exchanging $3 billion for an individual’s genomic data is a price even the world’s richest person would likely hesitate to pay. But what about $999? Or $99?

23andMe has ultimately priced its personal genetic testing service at $99. The company’s genetic testing service, which analyzes approximately one million genetic loci, assesses factors such as hereditary diseases and disease susceptibility. This service provides over 200 test results, including whether an individual carries genetic variants associated with alcohol-induced facial flushing or mutations that increase cancer risk. Concerned about the potential negative consequences of uncertainty in genetic testing and the risk of misleading consumers, the U.S. Food and Drug Administration (FDA) halted 23andMe’s operations. Nevertheless, 23andMe has established a genetic database comprising 800,000 individuals. In early 2015, 23andMe announced two partnership deals: the first with Genentech, a subsidiary of Roche, and the second with pharmaceutical giant Pfizer. In addition to these two collaborations, 23andMe reached agreements in principle with twelve other institutions, all leveraging 23andMe’s extensive database.

BaseHealth, which has a partnership with Illumina (its CEO, Jorge Velarde, formerly served as Vice President of Business Development at Illumina), is regarded as a second-generation genomic health company. The company integrates DNA data with traditional health indicators, such as diet, exercise, and family health history. Rather than targeting consumers directly, BaseHealth adopts a B2B model, collaborating with large pharmaceutical groups and healthcare institutions to alert physicians to patients’ potential disease risks during initial consultations. For example, if an individual is at risk for type 2 diabetes, their lifestyle factors and a range of conventional medical metrics are presented to the physician to provide a comprehensive overview of the patient’s condition.

The above discussion covers only two of the many personal genetic testing startups. Pioneers in this field also include deCODE genetics and Navigenics. While deCODE genetics, Navigenics, and 23andMe analyze only a small portion of the human genome, Knome, a U.S.-based company, performs true whole-genome sequencing at a cost of $125,000 per person.

In China, several direct-to-consumer genetic testing companies, such as 360 Gene, have emerged in succession, striving to localize genetic testing services. The entire process is straightforward, taking only three to four weeks from saliva collection to the issuance of the test report. Currently, the prices of personal genetic testing products in China range from several hundred to over one thousand RMB, approaching the price levels of 23andMe.

Non-Invasive Prenatal Testing (NIPT)) is in action



How vast is the market for non-invasive prenatal testing (NIPT)? One need only look at the annual number of pregnant women. In China, this figure has approached 10 million!

In the United States, four major companies provide non-invasive prenatal testing (NIPT) services: Sequenom, Verinata Health (acquired by Illumina in 2013), Ariosa Diagnostics, and Natera. Both Sequenom and Verinata Health employ high-throughput gene sequencing for their tests, and the two companies have been engaged in ongoing infringement claims and other disputes. In late 2014, Illumina and Sequenom reached an agreement under which each party would retain ownership of its respective patents and share the profits derived from them. However, Ariosa Diagnostics filed multiple lawsuits against Illumina, primarily centered on patent infringement. The United States Patent and Trademark Office’s Patent Trial and Appeal Board subsequently ruled to invalidate 13 patents held by Illumina. Nevertheless, Illumina has exited the NIPT retail business and shifted its focus to collaborations with other companies.

In China, on February 17 of last year, the National Health and Family Planning Commission (NHFPC) halted the clinical application of gene sequencing. Consequently, the non-invasive prenatal testing (NIPT) market, which had been dominated by BGI Genomics and Berry Genomics, underwent significant changes. On June 30, 2014, the China Food and Drug Administration (CFDA) approved BGI Genomics’ high-throughput gene sequencers and diagnostic products. Furthermore, BGI Genomics’ independently developed non-invasive prenatal genetic testing technology (NIFTY®) was granted an invention patent by the European Patent Office, taking effect in 15 member states including the United Kingdom and Belgium. This marked the first non-invasive prenatal genetic testing patent from mainland China to be approved in Europe. Meanwhile, the State Intellectual Property Office of China also issued a “Notification of Grant of Patent Right” to BGI Genomics.



However, the duopoly held by these two companies did not last long. In late 2014, the Medical Administration and Hospital Management Bureau of the National Health and Family Planning Commission issued the “Notice on Launching Pilot Programs for the Clinical Application of High-Throughput Gene Sequencing Technology,” announcing for the first time the initial cohort of pilot institutions for the clinical application of high-throughput sequencing technology in Beijing and Guangzhou. The notice covered three specialties (genetic disease diagnosis, prenatal screening and diagnosis, and preimplantation genetic diagnosis) and approved seven pilot institutions in Beijing and Guangzhou, including third-party testing laboratories such as Annoroad, CapitalBio, BGI, and Daan Gene.

Within a month, the Department of Maternal and Child Health Services under the National Health and Family Planning Commission issued the "Notice on Launching Pilot Programs for the Clinical Application of High-Throughput Gene Sequencing in Prenatal Screening and Diagnosis by Prenatal Diagnostic Institutions," approving 109 medical institutions to conduct clinical pilots of high-throughput gene sequencing for prenatal screening and diagnosis (NIPT). This number far exceeds the previously announced count of third-party testing laboratories for NIPT by the Bureau of Medical Administration and Medical Services, fully affirming the significant role that medical institutions will play in the future clinical application of high-throughput gene sequencing.

In China, non-invasive prenatal testing (NIPT) is even subsidized by the government in some regions! This reminds the author of Gigi Leung, who was several months pregnant at the time, underwent non-invasive prenatal DNA testing offered by a certain company, and became its first brand ambassador.

Personal Genetic Testing Drives Personalized Diagnosis and Treatment



In 2013, internationally renowned Hollywood actress Angelina Jolie learned through personal genetic testing that she carried a BRCA1 gene mutation. Taking into account other factors, her risk of developing breast cancer was as high as 87%. To avoid developing breast cancer, the actress, known for her sensuality, underwent a bilateral mastectomy, reducing her risk of breast cancer from 87% to less than 5%. This story caused a sensation worldwide and prompted more women to learn about and undergo genetic testing. People refer to this phenomenon as the “Angelina Effect.”

Today, the field of personalized medicine, driven by individual genomic sequencing and encompassing the detection and treatment of conditions such as cancer and rare diseases, has become a fiercely contested strategic battleground.

Throughout 2014, Roche nearly built a “Roman Empire” in the sequencing industry by integrating upstream and downstream segments of the industrial chain. Its acquisitions encompassed not only reagent and sequencer manufacturers, but also data computing platforms and various clinical application service providers. In the first half of last year, Roche spent $450 million to acquire the molecular diagnostics company IQuum; subsequently, it invested $350 million to acquire Genia Technologies, which was developing a nanopore sequencing platform. In October of the same year, Roche acquired from Abvitro a primer extension-based target enrichment technology for NGS sample preparation. By December, Roche had successively acquired Ariosa Diagnostics and the genomic analysis company Bina Technologies.

In early 2015, Roche further invested $1.03 billion to acquire a 56.3% stake in Foundation Medicine. Since its inception, Foundation Medicine has been dedicated to developing genomic testing technologies for cancer. Steve Jobs also underwent genetic testing with the company. At the time, Jobs spent approximately $100,000 on this test, which ultimately failed to save his life. Nevertheless, Jobs believed such testing was highly meaningful. In an interview, he stated, “I am either going to be one of the first people to beat cancer this way, or one of the last people to die from it.”

In China, in early 2015, WuXi AppTec announced the acquisition of NextCODE Health for $65 million (nearly RMB 400 million) and planned to merge its genomics center with NextCODE to form a new company named WuXi NextCODE Genomics. The company’s headquarters would be located in Shanghai. It is the first and only next-generation sequencing laboratory in China to have obtained CLIA certification from the United States, enabling it to issue clinical diagnostic reports for U.S. patients. NextCODE Health was founded in October 2013 by former executives of deCODE genetics, Gulcher and Smarason. The company has developed the world’s most mature genomic sequencing analysis platform and the most efficient database, housing more than 300,000 human whole-genome datasets, thereby empowering clinicians and researchers worldwide to maximize the use of high-throughput sequencing technologies for improved disease diagnosis and treatment.

Whether for personal health monitoring, non-invasive prenatal testing (NIPT), or personalized disease diagnosis and treatment, various applications driven by personal genomic sequencing are gradually permeating our daily lives. The genomic sequencing industry has evolved from a nascent spark into a widespread movement. Once regarded as cutting-edge, high-end scientific research, it has now entered the everyday healthcare routines of ordinary people.

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Note: This article is specially contributed to VCBeat by “Sequencing China"Authored by."