Cancer prevention in cancer predisposition syndromes: A protocol for testing the feasibility of building a hereditary cancer research registry and nurse navigator follow up model

Abstract

Monogenic, high penetrance syndromes, conferring an increased risk of malignancies in multiple organs, are important contributors to the hereditary burden of cancer. Early detection and risk reduction strategies in patients with a cancer predisposition syndrome can save their lives. However, despite evidence supporting the benefits of early detection and risk reduction strategies, most Canadian jurisdictions have not implemented programmatic follow up of these patients. In our study site in the province of Newfoundland and Labrador (NL), Canada, there is no centralized, provincial registry of high-risk individuals. There is no continuity or coordination of care providing cancer genetics expertise and no process to ensure that patients are referred to the appropriate specialists or risk management interventions. This paper describes a study protocol to test the feasibility of obtaining and analyzing patient risk management data, specifically patients affected by hereditary breast ovarian cancer syndrome (HBOC; BRCA 1 and BRCA 2 genes) and Lynch syndrome (LS; MLH1, MSH2, MSH6, and PMS2 genes). Through a retrospective cohort study, we will describe these patients’ adherence to risk management guidelines and test its relationship to health outcomes, including cancer incidence and stage. Through a qualitative interviews, we will determine the priorities and preferences of patients with any inherited cancer mutation for a follow up navigation model of risk management. Study data will inform a subsequent funding application focused on creating and evaluating a research registry and follow up nurse navigation model. It is not currently known what proportion of cancer mutation carriers are receiving care according to guidelines. Data collected in this study will provide clinical uptake and health outcome information so gaps in care can be identified. Data will also provide patient preference information to inform ongoing and planned research with cancer mutation carriers.

An Integrative Review on the Oncology Nurse Navigator Role in the Canadian Context

“…This care coordination role was a central responsibility of the ONN, as it directly addressed the physical barriers to care experienced by cancer patients (Gilbert et al, 2010;Watson et al, 2016b). Through the coordination of care, patients were prevented from "falling through the cracks," such as missing referrals, follow-up checkups, and regular screenings (Etchegary et al, 2022;Pedersen & Hack, 2011;Gilbert et. al., 2010, p. 233).…”

“…Various authors described the navigator as a supporter of needs (Blais et al, 2014;Cook et al, 2013;Crawford et al, 2013;Duthie et al, 2017;Fillion et al, 2006;Fillion et al, 2011;Gilbert et al, 2010;Hebert & Fillion., 2011a;Hebert & Fillion, 2011b;Kammili et al, 2023;Loiselle et al, 2020;Melhelm et al, 2017;Miller et al, 2021;Trevillion et al, 2015). The ONN supported patients' emotional, practical, informational, and practical needs (Cook et al, 2013;Etchegary et al, 2022). Nurses followed a comprehensive multidimensional approach that included skills in communication, developing helping relationships, and upholding holistic views 2009a;Plante & Joannette, 2009b).…”

Models of care and the advanced practice nurse role in caring for children and adolescents with a cancer predisposition syndrome: a scoping review protocol

“…This has mainly been described in relation to care coordination, education, and family engagement. 19,20 Etchegary et al 19 describe gaps in care delivery for adults with a CPS in Canada, suggesting an APN is key in addressing these gaps. In a review of nurses in genetics, Indra 21 outlined the scope of practice within core standards for all nurses, which include assessment, diagnosis, outcome identification, planning, implementation, coordination of care, health teaching/promotion, consultation, treatment, counseling, and evaluation.…”

“…Several authors discuss an APN role in relation to the care of patients with a genetic syndrome. This has mainly been described in relation to care coordination, education, and family engagement 19,20 . Etchegary et al 19 describe gaps in care delivery for adults with a CPS in Canada, suggesting an APN is key in addressing these gaps.…”