Christensen Kurt D, Roberts J Scott, Zikmund-Fisher Brian J, Kardia Sharon Lr, McBride Colleen M, Linnenbringer Erin, Green Robert C
Division of Genetics, Brigham and Women's Hospital and Harvard Medical School, EC Alumnae Building, Suite 301, 41 Avenue Louis Pasteur, Boston, MA 02115 USA.
Department of Health Behavior and Health Education, University of Michigan School of Public Health, Ann Arbor, MI 48109 USA.
Genome Med. 2015 Jan 31;7(1):10. doi: 10.1186/s13073-014-0124-0. eCollection 2015.
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.
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.
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).
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.
ClinicalTrials.gov NCT00089882 and NCT00462917.
关于常见复杂疾病的遗传风险信息能否促使个体改善健康行为并推进规划的研究结果不一。考察不同研究招募策略的影响可能有助于调和这些不一致之处。
对REVEAL研究的数据进行二次分析，该研究是一系列随机临床试验，旨在考察阿尔茨海默病（AD）遗传易感性检测的影响。我们测试了在AD风险和APOE基因型披露后，自我推荐参与者（SRP）是否比主动招募参与者（ARP）更有可能报告健康行为并推进规划的改变。
在795名已知招募状态的参与者中，546名（69%）是自我推荐的，249名（31%）是被主动招募的。与ARP相比，SRP更年轻，非裔美国人身份的可能性更小，家庭收入更高，对AD更关注（所有P < 0.01）。他们在遗传风险披露前退出研究的频率也更低（26%对41%，P < 0.001）。在遗传风险披露后6周和12个月，两组报告至少一种健康行为改变的可能性以及未来改变至少一种行为的意图没有差异。然而，观察到交互作用，即ε4阳性的SRP比ε4阴性的SRP在披露后六周更有可能报告特别是在精神活动（38%对19%，p < 0.001）和饮食（21%对12%，p = 0.016）方面的改变，而ε4阳性和ε4阴性的ARP在精神活动（15%对21%，p = 0.413）或饮食（8%对16%，P = 0.190）方面的差异不明显。同样，ε4阳性参与者比ε4阴性参与者更有可能报告在SRP中有改变长期护理保险的意图（20%对5%，p < 0.001），但在ARP中并非如此（5%对9%，P = 0.365）。
与回应基因检测邀请的人相比，主动寻求AD遗传风险评估的个体更有可能接受检测并利用结果来指导行为改变。这些结果表明遗传风险信息的行为影响可能因提供服务的模式而异，并表明参与者如何被招募到转化基因组学研究中会影响研究结果。
ClinicalTrials.gov NCT00089882和NCT0046也可关注公众号医考侠获取更多医学考试资讯和资料917。
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