Original Title: Principes et critères pour guider le recours au séquençage pangénomique par rapport au séquençage ciblé d’un nombre limité de gènes pour la recherche de variants somatiques en oncologie

Authors' objectives: At the request of the Ministère de la Santé et des Services sociaux (MSSS), the Institut national d'excellence en santé et en services sociaux (INESSS) was tasked with identifying the principles and criteria for guiding the use of pan-genomic sequencing (exome, transcriptome, or genome) versus targeted sequencing of a limited number of genes (multigene panel) for the molecular profiling of tumors in adults.

Authors' results and conclusions: RESULTS (#1 PRINCIPLES AND CRITERIA FOR SELECTING AN NGS METHOD - TYPES OF SAMPLES AVAILABLE): In clinical practice, most tumor biopsy tissues are formalin-fixed and paraffin-embedded (FFPE) which are well suited for targeted multigene panel profiling. WES and WTS (WES/WTS) are preferably performed using DNA/RNA extracted from fresh, unfixed tissue. (#1.1 QUANTITY AND QUALITY OF GENETIC MATERIAL): The availability of genomic material is a key factor in selecting an NGS method. Restricted targeted multigene panels require relatively modest amounts of DNA/RNA compared to expanded panels or WES/WTS. WES/WTS also requires high-quality material. (#1.2 VALIDITY AND CLINICAL UTILITY): According to the studies reviewed, expanded multigene panels can yield a number of treatment recommendations comparable to those associated with WES/WTS. However, differences in participant selection, analytical methods, and publication periods limit the interpretation of these findings and their applicability to the Quebec context. (#1.3 MATERIAL AND HUMAN RESOURCES): WES/WTS requires greater material, human, and IT resources than multigene panels, primarily because of the volume of data that must be analyzed and archived (digital storage). (#2. ECONOMIC CONSIDERATIONS IN THE QUEBEC CONTEXT): Based on the scenarios considered, additional costs of approximately $6.0 million to $9.4 million are anticipated over the next three years. This assumes a share of up to 60% (scenario 1) and 95% (scenario 2) for expanded multi-gene panels across all cancers, compared to other NGS approaches. However, these costs are subject to considerable uncertainty, including factors such as availability and diversity of NGS approaches, the costs associated with their implementation and maintenance within the public healthcare system, the number of analyses planned for each method, and the influence of profiling results on care pathways and services. CONCLUSION: This state of knowledge is intended to assist the MSSS in supporting laboratories and clinicians with the development and use of NGS analyses for tumor molecular profilingin adults. Consultations conducted by INESSS revealed concerns regarding the organization of services in Quebec, the network's capacity to perform molecular tumor profiling, and current delays in obtaining results.

Project Status: Completed

Year Published: 2025

URL for published report: https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/principes-et-criteres-pour-guider-le-recours-au-sequencage-pangenomique-par-rapport-au-sequencage-cible-dun-nombre-limite-de-genes-dans-la-recherche-de-variants-somatiques-en-oncologie.html

English language abstract: An English language summary is available

Publication Type: Other

Country: Canada

Province: Quebec

Organisation Name: Institut national d'excellence en sante et en services sociaux

Contact Address: L'Institut national d'excellence en sante et en services sociaux (INESSS) , 2021, avenue Union, bureau 10.083, Montreal, Quebec, Canada, H3A 2S9;Tel: 1+514-873-2563, Fax: 1+514-873-1369

Contact Name: demande@inesss.qc.ca

Contact Email: demande@inesss.qc.ca

Copyright: L'Institut national d'excellence en sante et en services sociaux (INESSS)