Yesterday,2019 Illumina China Precision Health SummitSuccessfully held at the Park Hyatt Beijing, the summit featured keynote speeches, roundtable discussions, and group project collaboration negotiations. Attendees were experts and scholars from fields such as biobanking, cohort studies, translational medicine, bioinformatics, and biopharmaceuticals.Illumina unveiled the Chinese Genotyping Array (CGA), a research-grade chip specifically designed for the Chinese population, at the summit to advance large-scale genomic research in China.
The summit opened with remarks by Mr. Wang Biao, Marketing Director of Illumina Greater China, who articulated Illumina’s enduring mission to improve human health through genome decoding and its ongoing efforts to drive innovation in technologies and tools for precision health applications.Dr. Jennifer Stone, Director of Population Genomics at Illumina, delivered the inaugural keynote address, detailing how population-scale genomics studies currently underway around the globe are ultimately advancing precision health for all humanity.
Subsequently, Professor Jian Yang from the University of Queensland, Australia, delivered a lecture titled “Design and analyses in genome-wide association studies,” elaborating on the design and analytical methods of GWAS to elucidate the genetic architecture of human complex traits and diseases.Professor Shan Guangliang from the Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences, engaged in discussions with attending experts on the rational understanding and clinical application of medical big data. Rigorous data quality control and scientifically sound management and utilization form the foundation for advancing clinical practice.
During the morning lecture session, Professor Zheng Houfeng from Westlake University shared his insights on genotype imputation evaluation methods optimized for the Chinese population and the development of biobanks for the Chinese population, drawing on his years of experience in genetic research focused on susceptibility genes for complex diseases.Professor Jin Zibing from Wenzhou Medical University and its affiliated Eye Hospital presented clinical research work on the discovery of genes associated with macular degeneration in ophthalmology, demonstrating integrated analysis and functional validation based on his practice of closely combining scientific research with clinical applications.
The launch ceremony for the Chinese Genotyping Array (CGA) chip, serving as the final segment of the morning session, brought the summit to a brief climax. An exciting launch video unveiled the CGA to the audience.
Mr. Faisal Chaabani, Global Chip Product Manager at Illumina, introduced this new product optimized for research on the Chinese population. It is based on the classic Illumina HTS format and inherits from the Global Screening Array (GSA) chip, which has sold over 15 million units worldwide.Improvements to the whole-genome backbone provide more comprehensive coverage of both common and low-frequency variants in the Chinese population, while the evolution and refinement of the clinical research locus library include loci for current high-interest applications such as polygenic risk score (PRS) assessment.CGA is poised to serve as a universal chip platform, providing reliable, high-throughput, and cost-effective solutions for China’s extensive biobanks and precision medicine research.
Subsequently, Dr. Chen Gang, CEO of WeGene, represented the Design Alliance to provide a detailed introduction to the design rationale of the chip’s whole-genome backbone. WeGene was deeply involved in the new chip’s design process, leveraging its extensive knowledge base on the Chinese population’s genome to lay the foundation for the CGA’s superior performance in this demographic. As an initial user, WeGene also developed experimental workflows and data analysis solutions compatible with the CGA, thereby validating its robust performance and stability.According to the current business plan, CGA will begin accepting user pre-orders in the first quarter of 2020.
Following the midday networking session, the afternoon agenda of the summit remained equally compelling.As the first speaker, Professor Xu Shuhua from the CAS-MPG Partner Institute for Computational Biology delivered a lecture titled “Population Genetics Studies in the Context of Precision Medicine,” sharing with the audience his team’s establishment of a single-nucleotide variant database encompassing diverse global populations, as well as the applications of big data in population genomics in the field of health.Subsequently, Professor Wang Chaolong from Huazhong University of Science and Technology discussed the transition from gene chips to whole-genome sequencing (WGS), elaborating on how large-scale WGS approaches were employed to explore the migration and admixture of the three major Asian ethnic groups in Singapore, leading to the discovery of numerous novel SNP loci to improve genotype imputation methods for populations in the Asia-Pacific region.
During the afternoon lecture session, Professor Bei Jinxin from the Sun Yat-sen University Cancer Center discussed the concept of personalized diagnosis and treatment of tumors. He introduced genetic research on EBV-related diseases using gene chips, which will provide effective solutions for precise personalized diagnosis and treatment of these conditions.The final keynote speaker at the summit was Professor Li Shiping from Beijing Tiantan Hospital, Capital Medical University.Professor Li introduced the research platform for cognitive disorders established under the National Clinical Research Center for Neurological Diseases. This platform has undertaken remarkable clinical research and collaborated closely with population genomics companies such as WeGene, achieving exciting results in translational research on Alzheimer’s disease.
The final session of the summit featured concurrently held “Roundtable Forum” and “Group Project Collaboration Negotiation Meeting.”The roundtable forum was divided into two themes: “CGA Deep Dive” and “Research on Personal Genomics.”The former session was co-hosted by Illumina’s chip application specialists and expert instructors from the CGA Design Alliance, who further elaborated on the design philosophy and performance characteristics of CGA and addressed numerous questions of concern to attendees;The latter has been eloquently introduced by companies such as WeGene, with massive genotype and phenotype data from hundreds of thousands of individuals in natural populations significantly advancing individual genomic research in various directions.During the “Group Project Collaboration Negotiation Session,” leading national gene chip and sequencing service companies presented their service workflows—from detection to data interpretation—via posters, and actively engaged with numerous cohort study researchers in discussions on various forms of collaborative research applications.
Illumina thanks all the guests for their wonderful presentations and the active participation of numerous attendees.The summit has revealed strong enthusiasm from the scientific, medical, and industrial communities, which will undoubtedly drive the continued development of precision medicine initiatives and large-scale population genomics research in China.Illumina is committed to working with experts, partners, and customers to continuously advance technology and products, break boundaries, drive innovation, and support the development of precision health in China and around the world.
