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

Abstract

Background: The 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.

Methods: We 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).

Results: A 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.

Conclusions: The 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.

Fig. 1

Schematic of the workshop format

Fig. 2

a Responses to tracker attitude question 1 (public funding): CRC workshop. Percentage of respondents over time for each category of response to the question: “If DNA risk tests for colon cancer, do you think [Province] should pay for them?” b Responses to tracker attitude question 1 (public funding): T1DM workshop. Percentage of respondents over time for each category of response to the question: “If DNA risk tests for type 1 diabetes became available, do you think [Province] should pay for them?”

Fig. 3

a Responses to tracker attitude question 2 (personal decision): CRC workshop. Percentage of respondents over time for each category of response to the question: “When you think about your own situation, would you want to have a DNA risk test for colon cancer?” b Responses to tracker attitude question 2 (personal decision): T1DM workshop. Percentage of respondents over time for each category of response to the question: “When you think about your child’s situation, would you want him or her to have a DNA risk test for T1DM?”

Fig. 4

Attitudes of participants indicated by valence words. Responses to question: “Which of the following words best describe what you feel about the developments arising from new discoveries in genetics? (Please circle as many words as apply).” T1DM = Type 1 Diabetes Mellitus, CRC = Colorectal Cancer. * = statistically significant difference at P = 0.05 between topic groups