This article was originally published in 2019 and has been updated for clarity and readability.
Recently, MGI interviewed Dr Gong Mengchun, a member of the Diagnostic Science Committee of the International Rare Disease Research Alliance (IRDiRC). He graduated from the Peking Union Medical College School of Clinical Medicine and has extensive experience in rare disease registration, medical informatics research, and global collaboration on big data standardization.
Dr Gong shared perspectives on the clinical application of high-throughput sequencing in rare diseases and the future development of precision medicine.
Multi-Directional Technologies to Improve Rare Disease Diagnosis
“I used to be a clinician, focusing on molecular tumour typing and genetic disease diagnosis,” Dr Gong explained. “My work on children’s genetic diseases, which are often rare, highlighted the critical role of sequencing and genetic analysis. New treatments, including gene editing, require integration of multiple technologies to improve diagnosis and treatment capabilities in medical institutions.”
High Demand for Sequencing in Hereditary Rare Diseases
“Challenges remain, such as early identification of clinical phenotypes, quality control of sequencing processes, and rapid data interpretation in settings like neonatal ICUs,” Dr Gong noted. “Clinical diagnosis of hereditary rare diseases has strong demand for sequencing technology and genomics data processing. With China’s independent sequencing technology and platforms, integration into clinical diagnosis and treatment will accelerate.”
MGI’s Development Facilitates Genomics in Clinical Settings
“I firmly believe genomics technologies and equipment will increasingly enter hospitals, producing omics data integrated with electronic medical records. MGI’s recent equipment advances have opened the door for such clinical applications,” Dr Gong said. “Low-cost, high-availability, and easy-to-use tools allow hospitals to generate multi-dimensional biogenomic information, forming the foundation for future medical big data.”
Building Confidence in China’s Precision Medicine
“China’s precision medicine is still developing. Successful case studies increase confidence, especially for clinical experts slow to adopt new technologies. Collaboration between sequencing manufacturers and hospitals, demonstrated at conferences like ICG, can accelerate industry-wide adoption and support national health goals,” Dr Gong added.
Gene Sequencing Offers Broad Clinical Potential
“Gene sequencing has strong clinical applicability and broad development prospects. Mastering China’s intellectual property allows cost control, connectivity, and close integration with clinical medicine. I hope many hospitals establish sequencing and report interpretation centres, bringing sequencing equipment fully into hospital practice, delivering fast, quality-controlled services and enabling new healthcare models,” Dr Gong concluded.
