Public attitudes towards genomic risk profiling as a component of routine population screening

Nicholls, Stuart G.; Wilson, Brenda J.; Craigie, Samantha; Etchegary, Holly; Castle, David; Carroll, June C.; Potter, Beth K.; Lemyre, Louise; Little, Julian

doi:10.1139/gen-2013-0070

Cited by 21 publications

(22 citation statements)

References 58 publications

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“…Identification of pathogenic variants and variants associated with an increased risk for actionable conditions may help providers and patients target prevention efforts, avoiding more expensive procedures associated with treating disease [ 12 , 13 , 14 ]. Given that the capabilities of genomic sequencing continue to expand, some are optimistic that integrating genomic sequencing more fully into clinical settings may reduce overall health care expenditures [ 15 ].…”

Section: Introductionmentioning

confidence: 99%

Assessing the Costs and Cost-Effectiveness of Genomic Sequencing

Christensen

Dukhovny

Siebert

et al. 2015

JPM

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Despite dramatic drops in DNA sequencing costs, concerns are great that the integration of genomic sequencing into clinical settings will drastically increase health care expenditures. This commentary presents an overview of what is known about the costs and cost-effectiveness of genomic sequencing. We discuss the cost of germline genomic sequencing, addressing factors that have facilitated the decrease in sequencing costs to date and anticipating the factors that will drive sequencing costs in the future. We then address the cost-effectiveness of diagnostic and pharmacogenomic applications of genomic sequencing, with an emphasis on the implications for secondary findings disclosure and the integration of genomic sequencing into general patient care. Throughout, we ground the discussion by describing efforts in the MedSeq Project, an ongoing randomized controlled clinical trial, to understand the costs and cost-effectiveness of integrating whole genome sequencing into cardiology and primary care settings.

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Section: Introductionmentioning

confidence: 99%

Assessing the Costs and Cost-Effectiveness of Genomic Sequencing

Christensen

Dukhovny

Siebert

et al. 2015

JPM

View full text Add to dashboard Cite

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“…While we have previously explored the qualitative arguments provided by participants for their support for, or concerns regarding, the implementation of genomic risk profiles as part of population screening [ 37 ], there is a lack of data regarding the role that deliberation has on the formation of these attitudes. A recent review of public attitudes to genetics called “for more detailed research in particular aspects of attitudes about genetics in order to understand how these attitudes operate in behavior or policy preferences” [ 28 ], and some have called for research that investigates how much specific deliberative elements contribute to the outcomes of such exercises, given that there has been little research in this area [ 38 ].…”

Section: Introductionmentioning

confidence: 99%

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

et al. 2016

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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.

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“…There are a variety of different motives for broad genetic testing when in good health [16]. Health-related motives may include the potential for early detection and intervention, prevention, and closer monitoring [17]; for adoptees, it can be a source of familial medical history [18]. Non-health-related motives may include curiosity, desire to learn ancestry information, participation in research, and recreation-related motives [16].…”

Section: Discussionmentioning

confidence: 99%