BGI Genomics CSO Mao Mao: 'No Genes, No Precision' – Advancing Precision Medicine Through Gene Sequencing and Cloud Computing

By Wang Congbin | Source: ZhiDing Network

2016 marked the inaugural year of China’s 13th Five-Year Plan and a pivotal year for the Chinese healthcare industry. In retrospect, it also proved to be a year characterized by the integrated development of the medical sector and information technologies, particularly big data. In April of that year, the General Office of the State Council issued the Key Tasks for Deepening Healthcare System Reform in 2016, which not only addressed the need to strengthen health informatization but also emphasized the critical role of big data at the frontline of medical care.

The healthcare industry’s emphasis on IT technologies, such as big data, is reflected not only in government policies but also in actual clinical care systems. As patients’ expectations for treatment quality continue to rise, the concept of “precision medicine”—driven by innovations in genomic sequencing, advances in biomedical analytics, and the emergence of big data analysis tools—is gaining increasing recognition within the healthcare sector. Simply put, precision medicine is a novel medical concept and care model built upon personalized medicine, developed through the rapid advancement of genomic sequencing technologies and the interdisciplinary application of bioinformatics and big data science.

No Genes, No Precision

In our transoceanic interview with Mao Mao, Chief Scientific Officer of BGI Genomics, we learned that gene sequencing technologies play a significant role in advancing precision medicine. This is because, aside from environmental factors and lifestyle habits, genetics is the most critical factor influencing human disease.

In the field of precision medicine, gene sequencing primarily serves two functions: first, it facilitates personalized precision healthcare for patients; second, it enables disease prediction through genetic analysis. Although current applications are predominantly focused on the former, gene sequencing for healthy individuals is poised to become a significant market in the future. As sequencing costs decline, the role of gene sequencing in human health will likely resemble that of weather forecasting in guiding clothing choices, providing precise predictions of disease susceptibility.

“Although ‘precision medicine’ is a relatively new term, medical treatment has always strived for greater precision. For instance, surgeons need to identify the specific tissues that must be resected, and internists need to select antibiotics targeted at specific bacteria—both of which exemplify precision.” According to Mao Mao’s understanding, precision medicine will become a prominent topic in the next year or two, primarily due to its breakthroughs in oncology treatment.

Mao Mao, Chief Scientific Officer of BGI Genomics

Ten to twenty years ago, oncology was a relatively imprecise field. Today, by targeting specific genetic mutations in tumors, we have achieved precise targeted therapy against cancer cells, resulting not only in improved efficacy but also in reduced side effects.

Therefore, genetic testing has evolved from its primary use in the 1990s for pathogen identification to determine the specific causative bacteria infecting patients, to making significant inroads into the fields of oncology and genetic diseases after 2000, thereby advancing to a level that supports personalized medicine for patients.

BGI has consistently provided diagnostic evidence for precision medicine. To some extent, BGI can be understood as analogous to a hospital’s clinical laboratory or pathology department. Specifically, by reading and analyzing genes, it identifies correlations between genetic profiles, diseases, and treatments, ultimately guiding patient therapy. Moreover, BGI has made the testing process more efficient and scalable, capable of processing samples for hundreds of individuals simultaneously.

To advance the in-depth application of precision medicine, BGI Group, in collaboration with Intel and Alibaba Cloud, established the first cloud platform dedicated to precision medicine applications in China and the Asia-Pacific region last year.

New Healthcare Delivery Models Transformed by the Cloud

The emphasis on the integrative and driving role of IT technology in precision medicine stems from the fact that precision medicine is inherently a multidisciplinary field combining various technologies. In the gene sequencing process, healthcare institutions must not only possess DNA sequencers to read genetic information but also use chemical reagents to reveal DNA sequences. More importantly, algorithms are required to analyze the relationships between genes and diseases, thereby guiding physicians in medication decisions.

Meanwhile, genetic mutations constitute highly complex alterations that are not discernible to the naked eye. Analyzing them requires substantial and sophisticated computational power to process the resulting data. Cloud computing platforms, augmented by big data technologies, can better support BGI Genomics in carrying out its gene sequencing operations.

This year, in response to the diverse needs of hospitals for precision medicine, BGI has leveraged cloud computing technology to transition its delivery model from offline to online, launching the BGI Online platform. The BGI Online Gene Computing Appliance, optimized for computing platforms based on Intel Xeon processors, helps healthcare institutions analyze patient genomic data more efficiently and rapidly.

BGI Online

The BGI Online platform integrates infrastructure such as high-performance computing, large-scale storage, and secure network interconnectivity, supporting cloud-based data storage, analysis, visualization, and delivery. Users can access their own data on BGI Online to obtain standard analytical results, customize personalized data analysis solutions, and share data and findings with other authorized users.

“In addition to medical devices, the market offers a wide range of analytical approaches in the healthcare sector.” According to Mao Mao, the shift in delivery models is a natural progression and will become a significant industry within the health sector in the future.

From the single example of genetic testing, it is evident that the future development of medicine will rely on the concurrent advancement of medical science and information technology. Technological innovations such as cloud-to-end solutions, coupled with specialized division of labor and collaboration between the healthcare and information industries, will undoubtedly drive the overall development of China’s precision medicine sector. For the general public, this progress promises greater access to personalized, precise, and efficient healthcare services in both disease treatment and health management.