A mainstreaming oncogenomics model: improving the identification of Lynch syndrome

Rosie O'Shea; Ashley Crook; Chris Jacobs; Maira Kentwell; Margaret Gleeson; Katherine M Tucker; Heather Hampel; Alanna Kulchak Rahm; Natalie Taylor; Sarah Lewis; Nicole M Rankin

doi:10.3389/fonc.2023.1140135

A mainstreaming oncogenomics model: improving the identification of Lynch syndrome

Front Oncol. 2023 May 26:13:1140135. doi: 10.3389/fonc.2023.1140135. eCollection 2023.

Authors

Rosie O'Shea¹, Ashley Crook², Chris Jacobs², Maira Kentwell^{3

4}, Margaret Gleeson⁵, Katherine M Tucker⁶, Heather Hampel⁷, Alanna Kulchak Rahm⁸, Natalie Taylor^{1

9}, Sarah Lewis¹, Nicole M Rankin^{1

10}

Affiliations

¹ Faculty of Medicine and Health, University of Sydney, Sydney, NSW, Australia.
² Discipline of Genetic Counselling, Graduate School of Health, University of Technology Sydney, Sydney, NSW, Australia.
³ Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Parkville, VIC, Australia.
⁴ Department of Oncology, Royal Women's Hospital, Parkville, VIC, Australia.
⁵ Hunter Genetics, Hunter Family Cancer Service, Newcastle, NSW, Australia.
⁶ Hereditary Cancer Clinic, Prince of Wales Hospital, Sydney, NSW, Australia.
⁷ Division of Clinical Cancer Genomics, Department of Medical Oncology and Therapeutics Research, City of Hope Comprehensive Cancer Center, Duarte, CA, United States.
⁸ Genomic Medicine Institute, Geisinger, Danville, PA, United States.
⁹ Cancer Research Division, Cancer Council NSW, Sydney, NSW, Australia.
¹⁰ Melbourne School of Population and Global Health, Melbourne University, Melbourne, VIC, Australia.

Abstract

Introduction: "Mainstreaming" is a proposed strategy to integrate genomic testing into oncology. The aim of this paper is to develop a mainstreaming oncogenomics model by identifying health system interventions and implementation strategies for mainstreaming Lynch syndrome genomic testing.

Methods: A rigorous theoretical approach inclusive of conducting a systematic review and qualitative and quantitative studies was undertaken using the Consolidated Framework for Implementation Research. Theory-informed implementation data were mapped to the Genomic Medicine Integrative Research framework to generate potential strategies.

Results: The systematic review identified a lack of theory-guided health system interventions and evaluation for Lynch syndrome and other mainstreaming programs. The qualitative study phase included 22 participants from 12 health organizations. The quantitative Lynch syndrome survey included 198 responses: 26% and 66% from genetic and oncology health professionals, respectively. Studies identified the relative advantage and clinical utility of mainstreaming to improve genetic test access and to streamline care, and adaptation of current processes was recognized for results delivery and follow-up. Barriers identified included funding, infrastructure and resources, and the need for process and role delineation. The interventions to overcome barriers were as follows: embedded mainstream genetic counselors, electronic medical record genetic test ordering, results tracking, and mainstreaming education resources. Implementation evidence was connected through the Genomic Medicine Integrative Research framework resulting in a mainstreaming oncogenomics model.

Discussion: The proposed mainstreaming oncogenomics model acts as a complex intervention. It features an adaptable suite of implementation strategies to inform Lynch syndrome and other hereditary cancer service delivery. Implementation and evaluation of the model are required in future research.

Keywords: Lynch syndrome; mainstreaming; oncogenomics model; oncology service delivery; routine genetic testing.

Grants and funding

This research was funded by a Cancer Council New South Wales PhD scholarship and by a Translational Cancer Research Network Clinical PhD Scholarship Top-up award, supported by the Cancer Institute NSW supporting RO’S in the completion of her PhD studies in the Faculty of Medicine and Health at The University of Sydney.