Stakeholder attitudes towards establishing a national genomics registry of inherited cancer predisposition: a qualitative study View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2021-11-02

AUTHORS

Bettina Meiser, Melissa Monnik, Rachel Austin, Cassandra Nichols, Elisa Cops, Lucinda Salmon, Amanda B. Spurdle, Finlay Macrae, Natalie Taylor, Nicholas Pachter, Paul James, Rajneesh Kaur

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. More... »

PAGES

59-73

References to SciGraph publications

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  • 2008-11-28. Genetic counselling and testing for inherited gene mutations in newly diagnosed patients with breast cancer: a review of the existing literature and a proposed research agenda in BREAST CANCER RESEARCH
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    URI

    http://scigraph.springernature.com/pub.10.1007/s12687-021-00559-8

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    DIMENSIONS

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    PUBMED

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