Attitudes to incorporating genomic risk assessments into population screening programs: the importance of purpose, context and deliberation

Abstract

BackgroundThe use of an overall risk assessment based on genomic information is consistent with precision medicine. Despite the enthusiasm, there is a need for public engagement on the appropriate use of such emerging technologies in order to frame meaningful evaluations of utility, including the practical implementation and acceptability issues that might emerge. Doing so requires the involvement of the end users of these services, including patients, and sections of the public who are the target group for population based screening. In the present study we sought to explore public attitudes to the potential integration of personal genomic profiling within existing population screening programs; and to explore the evolution of these attitudes as part of a deliberative process.MethodsWe conducted a mixed methods study presented in the format of a deliberative workshop. Participants were drawn from communities in Ottawa, Ontario (ON) and St John’s, Newfoundland and Labrador (NL), Canada. Individuals were approached to take part in a workshop on the incorporation of genomic risk profiling for either colorectal cancer screening (CRC), or newborn screening for type 1 diabetes mellitus (T1DM).ResultsA total of N = 148 (N = 65 ON, N = 83 NL) participants provided data for analysis. Participants in both groups were supportive of public funding for genomic risk profiling, although participants in the T1DM groups expressed more guarded positive attitudes than participants in the CRC groups. These views were stable throughout the workshop (CRC, p = 0.15, T1DM, p =0.39). Participants were less positive about individual testing, with a significant decrease in support over the course of the workshop (CRC p = 0.02, T1DM, p = 0.003). Common concerns related to access to test results by third parties.ConclusionsThe findings of this study suggest that members of the target populations for potential genomic profiling tests (designed for screening or risk prediction purposes) can engage in meaningful deliberation about their general acceptability and personal utility. Evaluations of whether a test would be personally useful may depend on the experience of the participants in personal health decision making, the purpose of the test, and the availability of interventions to reduce disease risk.Electronic supplementary materialThe online version of this article (doi:10.1186/s12920-016-0186-5) contains supplementary material, which is available to authorized users.

The implementation of pharmacogenomics into UK general practice: a qualitative study exploring barriers, challenges and opportunities

“…In North Carolina, USA, insurers have recently declined cover for WGS (although pharmacogenomics testing could be done without WGS), as its utility was considered low. There was also concern about the impact of pharmacogenomics on shared decision-making, similar to the findings from a recent US study which demonstrated the importance of purpose, context and deliberation when incorporating genomic risk assessments into population screening programs (Nicholls et al 2016). This study suggested that members of a target patient population could engage meaningfully about their acceptability and utility of genomic information (Nicholls et al 2016).…”

“…There was also concern about the impact of pharmacogenomics on shared decision-making, similar to the findings from a recent US study which demonstrated the importance of purpose, context and deliberation when incorporating genomic risk assessments into population screening programs (Nicholls et al 2016). This study suggested that members of a target patient population could engage meaningfully about their acceptability and utility of genomic information (Nicholls et al 2016). In another study, there was limited discussion on how different populations (ethnic differences) might react to their metaboliser status which might lead to exclusion of drug prescribing for that individual (Kaphingst et al 2015).…”

Public perception of predictive cancer genetic testing and research in Oregon

“…In addition to racial and ethnic diversity, other factors can impact awareness of and interest in biomedical research participation, such as religious beliefs, family structure, community setting, stigma, fear, or shame regarding carrier status (Mellon, Gauthier, Cichon, Hammad, & Simon, 2013; Tkatch et al, 2014; Tong et al, 2014; Underhill, Habin, & Shannon, 2017). For example, a person's decision to participate in biomedical research can be influenced by confusion about genetic terminology, research procedures, protections for research participants, or by a lack of knowledge about what to expect (Brothers et al, 2011; Clayton, Halverson, Sathe, & Malin, 2018; Etchegary, 2014; Hull et al, 2008; Laranjo, 2016; Lemke, Wolf, Hebert‐Beirne, & Smith, 2010; Nicholls et al, 2016).…”

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“…Thus it seems unlikely that this approach would gain public approval [5••], and this may prove a barrier to maximising the efficacy and cost-effectiveness of such programmes. It is notable that acceptability is likely to vary depending on both the framing of the purpose for population screening-for example as benefit to patients rather than costeffectiveness [36]-and on the context of both the intervention and the population in question [37].…”