The Beijing Consensus on High-Throughput Sequencing for Clinical Applications
High-throughput sequencing technologies have developed rapidly in recent years and are now widely used in clinical and research settings. Applications include non-invasive prenatal screening (NIPS), tumour mutation detection, hereditary cancer testing, rare disease diagnosis, pathogen detection and metagenomic analysis.
Despite the growing adoption of sequencing technologies, clinical testing workflows remain complex. From sample preparation and library construction to sequencing and data interpretation, the process involves numerous steps. Any issue within the workflow can affect data accuracy and potentially influence clinical decision-making.
To address these challenges, industry experts and clinical laboratories have worked to establish clearer standards for the clinical use of high-throughput sequencing.
Developing Standards for Clinical Sequencing Applications
Based on existing international guidelines, technical standards and expert recommendations, the Beijing Clinical Laboratory Center and the Laboratory Medicine Branch of the Beijing Medical Association coordinated the development of the Beijing Expert Consensus on the Standardised Clinical Application of High-throughput Sequencing Technology.
The consensus aims to provide guidance for laboratories implementing sequencing-based testing and to promote consistent standards for clinical applications of genomic technologies.
As one of the few manufacturers capable of mass-producing clinical-grade high-throughput sequencing platforms in China, MGI participated in the development of the consensus guidelines. The initiative is intended to support the safe and effective use of sequencing technologies in clinical testing.
Ten Key Recommendations for Standardising Clinical Sequencing
The Beijing Consensus provides guidance across several areas of sequencing laboratory management, including laboratory construction, workflow validation and quality management.
The recommendations address:
- Laboratory environment, safety and personnel requirements
- Selection and validation of sequencing tests
- Performance verification of sequencing platforms
- Development of standard operating procedures (SOPs)
- Quality control and laboratory capability evaluation
- Reporting and interpretation of sequencing results
Together, these recommendations establish ten expert consensus points designed to support reliable clinical sequencing practices.
Key Guidance from the Consensus
The document highlights several important principles for laboratories performing high-throughput sequencing tests:
- Laboratories should prioritise reagents approved by the National Medical Products Administration (NMPA). If approved reagents are not available, laboratory-developed tests (LDTs) may be used following comprehensive analytical and clinical performance validation.
- Sequencing-based tests must have a clearly defined clinical purpose and intended patient population.
- Clinical test applications, result interpretation and medical decision-making should be supported by appropriate scientific and clinical evidence.
- Before implementing sequencing tests using approved reagents or laboratory-developed tests, laboratories should verify analytical performance and validate bioinformatics workflows.
- The entire testing workflow should be recorded to ensure traceability across instruments, reagents, operators and quality control parameters.
Guidance for the Genomics Industry
The Beijing Consensus brings together experts from leading clinical institutions, including national clinical testing centres, major hospitals and regulatory laboratories. Contributors include specialists from organisations such as Peking University People’s Hospital, the Cancer Hospital of the Chinese Academy of Medical Sciences and the National Institutes for Food and Drug Control.
By establishing shared technical and quality standards, the consensus provides important guidance for laboratories adopting high-throughput sequencing technologies and supports the broader clinical application of genomics.
This article was originally published in 2019 and has been updated for clarity and readability.
