Associations between self-referral and health behavior responses to genetic risk information

Abstract

BackgroundStudies examining whether genetic risk information about common, complex diseases can motivate individuals to improve health behaviors and advance planning have shown mixed results. Examining the influence of different study recruitment strategies may help reconcile inconsistencies.MethodsSecondary analyses were conducted on data from the REVEAL study, a series of randomized clinical trials examining the impact of genetic susceptibility testing for Alzheimer’s disease (AD). We tested whether self-referred participants (SRPs) were more likely than actively recruited participants (ARPs) to report health behavior and advance planning changes after AD risk and APOE genotype disclosure.ResultsOf 795 participants with known recruitment status, 546 (69%) were self-referred and 249 (31%) had been actively recruited. SRPs were younger, less likely to identify as African American, had higher household incomes, and were more attentive to AD than ARPs (all P < 0.01). They also dropped out of the study before genetic risk disclosure less frequently (26% versus 41%, P < 0.001). Cohorts did not differ in their likelihood of reporting a change to at least one health behavior 6 weeks and 12 months after genetic risk disclosure, nor in intentions to change at least one behavior in the future. However, interaction effects were observed where ε4-positive SRPs were more likely than ε4-negative SRPs to report changes specifically to mental activities (38% vs 19%, p < 0.001) and diets (21% vs 12%, p = 0.016) six weeks post-disclosure, whereas differences between ε4-positive and ε4-negative ARPs were not evident for mental activities (15% vs 21%, p = 0.413) or diets (8% versus 16%, P = 0.190). Similarly, ε4-positive participants were more likely than ε4-negative participants to report intentions to change long-term care insurance among SRPs (20% vs 5%, p < 0.001), but not ARPs (5% versus 9%, P = 0.365).ConclusionsIndividuals who proactively seek AD genetic risk assessment are more likely to undergo testing and use results to inform behavior changes than those who respond to genetic testing offers. These results demonstrate how the behavioral impact of genetic risk information may vary according to the models by which services are provided, and suggest that how participants are recruited into translational genomics research can influence findings.Trial registrationClinicalTrials.gov NCT00089882 and NCT00462917Electronic supplementary materialThe online version of this article (doi:10.1186/s13073-014-0124-0) contains supplementary material, which is available to authorized users.

Psychological, behavioral and social effects of disclosing Alzheimer’s disease biomarkers to research participants: a systematic review

“…The qualitative studies included 60 and 79 participants [25, 26]. The populations of the quantitative studies varied between 76 and 343 participants, with the exception of one article describing two studies ( n  = 743) [27] and an online survey on hypothetical risk disclosure ( n  = 4036) [28]. In most studies, follow-up assessments were conducted after 6 weeks, 6 months and 12 months.…”

“…Six studies assessed one or more behavioral effects, including changes in insurance uptake, health-related behavior and other behavior [22, 24, 27, 28, 33, 34]. Five of those were part of the REVEAL studies [22, 24, 27, 33, 34].…”

“…Five of those were part of the REVEAL studies [22, 24, 27, 33, 34]. Three studies examined actual and planned changes in insurance uptake within 1 year after disclosure via self-report questionnaires [24, 27, 34].…”

“…Five of those were part of the REVEAL studies [22, 24, 27, 33, 34]. Three studies examined actual and planned changes in insurance uptake within 1 year after disclosure via self-report questionnaires [24, 27, 34]. Health-related behavior changes were assessed by means of yes/no questions on specific behavior changes in three studies [22, 27, 33], and by asking “If APOE ε4-positive/biomarker evidence of AD, you would” followed by several options in a study on hypothetical disclosure [28].…”

“…Three studies examined actual and planned changes in insurance uptake within 1 year after disclosure via self-report questionnaires [24, 27, 34]. Health-related behavior changes were assessed by means of yes/no questions on specific behavior changes in three studies [22, 27, 33], and by asking “If APOE ε4-positive/biomarker evidence of AD, you would” followed by several options in a study on hypothetical disclosure [28]. Two studies measured other behavioral effects, one via yes/no questions on specific actual or planned behavior changes [27] and one via the aforementioned question on hypothetical disclosure [28].…”