Abstract
This study aimed to describe the acceptability and perceived barriers and enablers to establish a national registry targeting carriers of pathogenic variants in cancer susceptibility genes from stakeholders’ perspectives. Such a registry may effectively target carriers to translate existing research findings into optimised clinical care and provide a population-level resource for further clinical research and new gene and therapy discovery. In-depth interviews were conducted with individuals from four stakeholder groups: carriers of pathogenic variants, healthcare professionals, data custodians from the field of familial cancer, and heads of molecular pathology laboratories. Interview data were subjected to a qualitative analysis guided by a thematic analysis framework using NVivo software. A total of 28 individuals were interviewed: 11 carriers, 8 healthcare professionals, 5 laboratory heads, and 4 data custodians. All carriers and healthcare professionals were enthusiastic about the potential research applications of the registry. Carriers described that altruistic motivations provided the foundation of their support of the planned registry. Some carriers felt comfortable with a broad consent (consenting once, prospectively), while others preferred a narrow consent approach (consenting each time data is accessed). Some carriers and data custodians and registry developers also expressed a reluctance to link family member data without appropriate consent. Participants’ enthusiasm and support for a national registry herald a productive and responsive research partnership once the registry has been established. Participants’ views can be used to inform the approaches to be taken to develop and manage such a registry as an implicit codesign approach.
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The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.
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We are very grateful to the individuals who participated in this research.
Funding
This study was funded by a Strategic Research Partnership Grant (CSR 18–01) from the Cancer Council of New South Wales. Bettina Meiser was supported by a National Health and Medical Research Council (NHMRC) Senior Research Fellowship Level B (ID 1078523). Amanda Spurdle was supported by an NHMRC Investigator Fellowship (APP177524).
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BM and RK led the design and conduct of this study. PJ, ABS, HD, FM, NT, CS, and NP contributed to the study concept and design. RK coordinated this multicentre study. MM, RA, CN, EC, and LS were responsible for data acquisition and/or qualitative analyses of interviews. BM wrote the manuscript. All authors contributed to the critical revision of the manuscript for intellectual content. BM and RK are guarantors.
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Meiser, B., Monnik, M., Austin, R. et al. Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study. J Community Genet 13, 59–73 (2022). https://doi.org/10.1007/s12687-021-00559-8
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DOI: https://doi.org/10.1007/s12687-021-00559-8