Abstract

Simple SummaryWe recently developed an oncogenetic model to overcome the unprecedented demand for genetic counseling and testing for hereditary breast and ovarian cancer. Quality and performance indicators showed that the implementation of this model improved access to genetic counseling and minimized delays for genetic tests for patients, who reported to be overwhelmingly satisfied with the process. However, it remains unknown whether this model is robust and sustainable or requires adjustments. In addition, whether the model could be deployed elsewhere remains also to be elucidated. The C-MOnGene study was therefore designed to gain an in-depth understanding of the context in which the model was developed and implemented, and document the lessons that can be learned to optimize oncogenetic services delivery in other settings.Medical genetic services are facing an unprecedented demand for counseling and testing for hereditary breast and ovarian cancer (HBOC) in a context of limited resources. To help resolve this issue, a collaborative oncogenetic model was recently developed and implemented at the CHU de Québec-Université Laval; Quebec; Canada. Here, we present the protocol of the C-MOnGene (Collaborative Model in OncoGenetics) study, funded to examine the context in which the model was implemented and document the lessons that can be learned to optimize the delivery of oncogenetic services. Within three years of implementation, the model allowed researchers to double the annual number of patients seen in genetic counseling. The average number of days between genetic counseling and disclosure of test results significantly decreased. Group counseling sessions improved participants’ understanding of breast cancer risk and increased knowledge of breast cancer and genetics and a large majority of them reported to be overwhelmingly satisfied with the process. These quality and performance indicators suggest this oncogenetic model offers a flexible, patient-centered and efficient genetic counseling and testing for HBOC. By identifying the critical facilitating factors and barriers, our study will provide an evidence base for organizations interested in transitioning to an oncogenetic model integrated into oncology care; including teams that are not specialized but are trained in genetics.

Highlights

  • It has been estimated that highly penetrant hereditary cancer syndromes account for up to 10% of all cancer incidence worldwide [1]

  • We sought here to present the protocol of the C-MOnGene study, designed to improve our understanding on how a novel collaborative oncogenetic model for genetic counseling and testing for hereditary breast-ovarian cancer (HBOC) was developed, performs, and could be integrated in different settings

  • We presented quality and performance indicators that prompted us to develop this protocol

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Summary

Introduction

It has been estimated that highly penetrant hereditary cancer syndromes account for up to 10% of all cancer incidence worldwide [1]. While these cancers represent a small fraction of the overall cancer burden [2], they tend to develop earlier in life and to be more aggressive than so-called “sporadic” cancers [3,4]. Pathogenic variants in the BRCA1 or BRCA2 genes are the most common cause of HBOC, and variant carriers have a 5- to 20-fold increased risk of developing breast or ovarian cancer [7,8]. The penetrance or cumulative lifetime risk of developing breast cancer is estimated at 72% for BRCA1 and 69% for BRCA2 pathogenic variant carriers [9]. The corresponding figures for ovarian cancer are 44% and 17% [9]

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