[Chinese expert consensus on NGS-based probe design for tumor comprehensive genomic profiling testing (2026 edition)].

Abstract

Comprehensive genomic profiling (CGP) based on next-generation sequencing (NGS) has emerged as a mainstream approach for clinical diagnosis and treatment with the development of precision oncology. However, as the first stage of NGS testing, probe design has not yet been standardized by a reliable assessment framework. In response to this unmet need, the Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, in collaboration with the Tumor Pathology Committee of China Anti-Cancer Association, the National Institutes for Food and Drug Control, and other authoritative institutions, convened clinical experts, pathologists, and representatives from third-party medical laboratories for in-depth discussions on standardization strategies. The expert panel formulated six core technical consensus statements, including the selection of target genes and regions, gene combination strategies, probe performance evaluation, and probe updates, based on a thorough analysis of both international studies and domestic clinical experience. For the design of the probe pool, this consensus methodically suggests a full-process technical specification. It fills a technical gap in tumor NGS probe design by standardizing probe design, establishing a multi-level performance validation system, and dynamically managing probe modifications. Furthermore, it supports the shift of genomic testing from "clinically available" to "clinically reliable" by offering a scientific basis for the National Medical Products Administration's (NMPA) regulatory review of laboratory-developed tests (LDTs) for oncology.