Associations between self-referral and health behavior responses to genetic risk informationby Kurt D Christensen, J Roberts, Brian J Zikmund-Fisher, Sharon Kardia, Colleen M McBride, Erin Linnenbringer, Robert C Green

Genome Medicine


Molecular Biology / Molecular Medicine / Genetics (clinical) / Genetics


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Genetic testing is increasingly accessible in both clinical behavior change following genetic testing for common diseases [1,2], a notable exception has been genetic susChristensen et al. Genome Medicine (2015) 7:10

DOI 10.1186/s13073-014-0124-0Furthermore, the study showed that individuals who learnMA 02115, USA

Full list of author information is available at the end of the articlesettings and the consumer marketplace, and hopes persist that disclosure of genetic predispositions for disease will empower individuals to change behaviors to reduce their disease risks. While a number of studies have suggested that there is little in the way of significant health ceptibility testing for Alzheimer’s disease (AD). Multiple separate trials conducted as part of the Risk Evaluation and Education for Alzheimer’s Disease (REVEAL) study have shown that cognitively normal adults with an affected parent or sibling who learned of an increased genetic risk for AD are more likely than those at population risk or those receiving non-genetic risk assessments to report changes in putative AD-prevention behaviors [3,4]. * Correspondence: 1Division of Genetics, Brigham and Women’s Hospital and Harvard Medical

School, EC Alumnae Building, Suite 301, 41 Avenue Louis Pasteur, Boston,Abstract

Background: Studies 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.

Methods: Secondary 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.

Results: Of 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).

Conclusions: Individuals 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 registration: NCT00089882 and NCT00462917behavior responses to ge

Kurt D Christensen1*, J Scott Roberts2, Brian J Zikmund-F

Erin Linnenbringer5, Robert C Green6 and for the REVEAL© 2015 Christensen et al.; licensee BioMed Ce

Commons Attribution License (http://creativec reproduction in any medium, provided the or

Dedication waiver (http://creativecommons.or unless otherwise stated.Open Access -referral and health etic risk information er2, Sharon LR Kardia3, Colleen M McBride4, tudy Groupntral. This is an Open Access article distributed under the terms of the Creative, which permits unrestricted use, distribution, and iginal work is properly credited. The Creative Commons Public Domain g/publicdomain/zero/1.0/) applies to the data made available in this article,

Christensen et al. Genome Medicine (2015) 7:10 Page 2 of 11of an increased genetic risk are more likely to report changes to advance planning [5,6]. These findings have led commentators to cite AD genetic susceptibility testing as an example of the personal utility genetic risk assessments can provide [7-9].

The inconsistencies between REVEAL study findings and research from the field at-large raises questions about what may differ between studies. Certainly, the lack of well-proven prevention and treatment strategies distinguishes AD from other common diseases, but the public tends to believe that lifestyle, diet, and mental activity are important determinants of AD risk [10]. It is also possible that the REVEAL study enrolled participants who were more motivated to pursue lifestyle modifications than other studies. While nearly all studies of genetic risk disclosure have enrolled self-selected populations [1], the REVEAL study is distinctive in its proportion of participants who self-referred to the study compared to the proportion who were actively recruited.

Individuals who self-refer to an intervention not only tend to have stronger personal and family histories of disease [11-14] and stronger concerns about developing the disease [11], but are also more likely to engage in intervention activities [15,16]. These factors may help explain why self-referred populations are frequently more likely to report behavior changes following an intervention than actively recruited populations [12,15].