Abstract

BackgroundGenomic risk information, based on common genomic susceptibility variants associated with risk of complex diseases such as cancer, may be incorporated into personalised prevention and screening strategies. We aimed to engage with members of the public, who are important stakeholders in this process, to further inform program development and other implementation outcomes such as acceptability and appropriateness.MethodsSemi-structured interviews were undertaken with 30 participants (aged 24–69 years, 50% female) recruited from a pilot trial in which they received personalised genomic risk information for melanoma. We explored participants’ views and attitudes towards offering general personal genomic risk information to the broader population. The data were analysed thematically.ResultsTwo overarching themes relevant to implementation considerations were identified. Firstly, participants’ preferences for accepting an offer of genomic risk information were based on family history, disease incidence and the possibility of prevention. Secondly, participants felt that the processes for offering risk information should be based on individual preferences, triaged according to risk and be supported by a health professional trained in genomics.ConclusionsParticipants felt that offering personal genomic risk information to the general population to inform prevention and early detection recommendations is acceptable, particularly for common, complex conditions such as cancer. Understanding participants’ preferences for receiving genomic risk information will assist with communication strategies and health workforce planning. We anticipate that these findings will contribute to the development of implementation strategies for incorporating genomic risk information into routine clinical practice.

Highlights

  • Genomic risk information, based on common genomic susceptibility variants associated with risk of complex diseases such as cancer, may be incorporated into personalised prevention and screening strategies

  • This paper focuses on participant responses and discussion related to their attitudes, expectations and preferences towards offering genomic risk information for melanoma and other diseases to the broader population

  • We found that participants’ rationales for receiving genomic risk information for themselves in the future were based on their family history of disease and the possibility of prevention or early detection for the conditions

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Summary

Introduction

Genomic risk information, based on common genomic susceptibility variants associated with risk of complex diseases such as cancer, may be incorporated into personalised prevention and screening strategies. We aimed to engage with members of the public, who are important stakeholders in this process, to further inform program development and other implementation outcomes such as acceptability and appropriateness. Genomic risk information, based on common genomic susceptibility variants associated with the risk of complex diseases such as cancer, may be incorporated into individual risk assessment [3,4,5,6]. Substantive engagement with relevant stakeholders such as the public can improve program development and other implementation outcomes such as acceptability and appropriateness [7, 15]

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