Original Title: Utilisation du prélèvement de cellules buccales comme source de matériel génétique

Authors' objectives: In Quebec, genetic analyses listed in the Répertoire québécois et système de mesures des procédures de biologie médicale (hereinafter referred to as the Répertoire) are performed using DNA extracted from blood samples, biopsies, or cultured cells, among others. Buccal cells are not generally used as a source of genetic material for diagnostic analyses in Quebec laboratories. They are, however, used by several laboratories outside Quebec, as well as for various non-diagnostic analyses. The Institut national d'excellence en santé et en services sociaux (INESSS) has been mandated by the Ministère de la Santé et des Services sociaux (MSSS) to evaluate the use of buccal cell samples as a source of DNA for next-generation sequencing (NGS), exome sequencing (WES), genome sequencing (WGS) and Sanger sequencing analyses for the diagnosis of genetic diseases, as well as for the confirmation of a familial mutation by nucleic acid amplification technique (NAAT).

Authors' results and conclusions: RESULTS (#1 POPULATION DIMENSION): Monitoring patients for a genetic diagnosis involves consultation with a doctor, then a geneticist, followed by genetic analysis after informed consent. Genetic diagnosis enables a tailored treatment or follow-up plan. (#2 CLINICAL DIMENSION -EXPERIENCE IN CARE AND SERVICE): According to the literature and some respondents to an INESSS survey, this method is well accepted and often favored by users, notably because it can be performed at home, with or without supervision. It could therefore improve the care experience and reduce travel for some patients, particularly in the context of family variant investigation. (#2.1 CLINICAL DIMENSION-ANALYTICAL AND CLINICAL VALIDITY): Studies show that the quality of DNA extracted from buccal cells is inferior to that of blood, with higher microbial contamination, except in premature infants. However, this contamination does not significantly affect diagnostic yield. NGS, WGS and WES results are comparable between blood and buccal cell samples. No studies on Sanger sequencing were found in the literature search. Contextual data suggest that buccal samples meet NAAT requirements. (#3 SOCIO-CULTURAL DIMENSION): The advisory committee considers that buccal cell samples may be accepted as a source of DNA to diversify options for patients, despite some concerns about the quality and contamination of unsupervised home samples. In line with professional guidelines, each laboratory should define and validate the types of samples acceptable for the analyses offered. (#4 ORGANIZATIONAL DIMENSION): Some members of the advisory committee suggest that the use of a buccal cell collection kit adapted to the needs of the Quebec population would be preferable, for reasons of logistics, cost and standardization of services. They suggest harmonizing accepted sample types and collection methods between laboratories offering the same analyses. In the event of its use, unsupervised buccal cell collection at home is advised to reduce pressure on collection centers, while offering supervised or in-clinic options for patients requiring assistance. (#5 ECONOMIC DIMENSION-EFFICIENCY): An efficiency analysis using a cost-minimization approach was conducted from the perspective of the Quebec healthcare system. The results of this analysis show that the efficiency of buccal cell sampling (supervised or unsupervised) in the Quebec context is uncertain. The latter depends on the kit used and the weighted value of genetic material extraction. (#5.1 ECONOMIC DIMENSION-BUDGET IMPACT ANALYSIS): The results show that the budgetary impact of buccal cell sampling is also uncertain. This impact depends on the kit (commercial or in-house) used, the weighted value of genetic material extraction, and the quantity of analyses. It is estimated that around 25,000 buccal cell samples would be taken over a three-year period if the kit were to be used. The use of a commercial kit could result in additional expenses of around $75,000 (between $67,400 and $179,700) over 3 years. On the other hand, if an in-house kit is used, savings of around $60,000 (up to $66,000) are anticipated over 3 years. However, considering that an increase of the cost of DNA extraction from buccal cells may occur, additional expenses of around $45,000 should be expected.

Authors' recommendations: Considering the findings in each of the dimensions evaluated and the deliberation process, the INESSS recommends to the Minister that buccal cell samples may be used as a source of material for diagnostic analyses in constitutional genetics in Quebec. The use of buccal cell sampling could be guided by the following measures: each laboratory should define and analytically verify acceptable specimen types and collection kits; consider clinician and patient preferences; make kits available for genetic consultation; offer options for supervised sampling by trained personnel; and follow-up procedures should be implemented to document buccal cell usage and associated costs.

Authors' methods: A rapid review of the literature and participatory approaches to collect contextual and experiential data were conducted.

Project Status: Completed

URL for project: https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/utilisation-du-prelevement-de-cellules-buccales-comme-source-de-materiel-genetique.html

Year Published: 2025

URL for published report: https://www.inesss.qc.ca/publications/repertoire-des-publications/publication/utilisation-du-prelevement-de-cellules-buccales-comme-source-de-materiel-genetique.html

English language abstract: An English language summary is available

Publication Type: Full HTA

Country: Canada

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)