Boeldt D L, Schork N J, Topol E J, Bloss C S
Scripps Genomic Medicine, Scripps Translational Science Institute, and Scripps Health, La Jolla, CA, USA.
Clin Genet. 2015 Mar;87(3):225-32. doi: 10.1111/cge.12419. Epub 2014 Jun 6.
Individuals who undergo multiplex direct-to-consumer (DTC) genomic testing receive genetic risk results for multiple conditions. To date, research has not investigated the influence of individual differences in disease perceptions among consumers on testing outcomes. A total of 2037 participants received DTC genomic testing and completed baseline and follow-up surveys assessing disease perceptions and health behaviors. Participants were asked to indicate their most feared disease of those tested. Perceived seriousness and controllability of the disease via lifestyle or medical intervention were assessed. Participants most frequently reported heart attack (19.1%) and Alzheimer's disease (18.6%) as their most feared disease. Perceived seriousness and control over the feared disease both influenced response to DTC genomic testing. Greater perceived seriousness and diminished perceived control were associated with higher, but not clinically significant levels of anxiety and distress. In some cases these associations were modified by genetic risk. No significant associations were observed for diet, exercise and screening behaviors. Individual differences in disease perceptions influence psychological outcomes following DTC genomic testing. Higher perceived seriousness may make a consumer more psychologically sensitive to test results and greater perceived control may protect against adverse psychological outcomes. Findings may inform development of educational and counseling services.
接受多重直接面向消费者(DTC)基因检测的个体可获得多种疾病的遗传风险结果。迄今为止,研究尚未调查消费者中疾病认知的个体差异对检测结果的影响。共有2037名参与者接受了DTC基因检测,并完成了评估疾病认知和健康行为的基线及随访调查。参与者被要求指出在检测的疾病中他们最害怕的疾病。评估了通过生活方式或医学干预对疾病的感知严重性和可控制性。参与者最常报告心脏病发作(19.1%)和阿尔茨海默病(18.6%)是他们最害怕的疾病。对所害怕疾病的感知严重性和控制都影响了对DTC基因检测的反应。更高的感知严重性和更低的感知控制与更高但无临床意义的焦虑和痛苦水平相关。在某些情况下,这些关联会因遗传风险而改变。未观察到饮食、运动和筛查行为之间存在显著关联。疾病认知的个体差异会影响DTC基因检测后的心理结果。更高的感知严重性可能会使消费者对检测结果在心理上更加敏感,而更强的感知控制可能会预防不良心理结果。研究结果可能为教育和咨询服务的发展提供参考。