Kattel Sharma, Onyekwelu Tochukwu, Brown Sherry-Ann, Jouni Hayan, Austin Erin, Kullo Iftikhar J
Department of Cardiovascular Diseases, Mayo Clinic, 200 First Street SW, Rochester, MN, 55905, USA.
School of Medicine, Medical University of South Carolina, Charleston, SC, USA.
J Genet Couns. 2017 Oct;26(5):1153-1161. doi: 10.1007/s10897-017-0092-9. Epub 2017 Apr 6.
Little is known about individuals' motivation, perception, and treatment beliefs towards the use of genetic information in risk estimates for coronary heart disease (CHD). In this study, participants at intermediate 10-year risk of CHD were randomized to receive either their estimated conventional risk score (CRS) alone, or a CRS and a genetic risk score (GRS), by a genetic counselor. Surveys on motivation to participate in and perception of genetic testing for CHD were administered at 3 months and treatment beliefs at 6 months following risk disclosure. Survey responses used Likert scales. Linear and logistic regression were used for analysis. Overall, motivation to participate in genomic clinical trials was favorable and did not differ between the CRS and GRS groups (16.95 ± 0.82 vs. 17.58 ± 0.83, p = 0.091), but participants who initially received their GRS indicated a greater desire to find ways to improve health as a reason for participation (OR: 0.53 (95%CI: 0.29, 0.94), p = 0.028). Perception of genetic testing was also favorable in both groups (15.29 ± 0.39 vs. 15.12 ± 0.40, p = 0.835). Participants who initially received their GRS were more inclined to recommend genetic testing to family and friends (9.95 ± 1.88 vs. 10.52 ± 2.17, p = 0.023). In the MI-GENES study, motivation to participate in and perception of genetic testing among study participants were overall favorable. Genetic risk disclosure was associated with increased motivation to recommend genetic testing to family and friends.
对于个体在冠心病（CHD）风险评估中使用基因信息的动机、认知及治疗信念，我们了解甚少。在本研究中，冠心病10年风险处于中等水平的参与者被随机分组，由基因咨询师单独提供其估计的传统风险评分（CRS），或同时提供CRS和基因风险评分（GRS）。在风险披露后的3个月进行关于参与冠心病基因检测的动机和认知的调查，6个月时进行治疗信念调查。调查回复采用李克特量表。使用线性回归和逻辑回归进行分析。总体而言，参与基因组临床试验的动机良好，CRS组和GRS组之间无差异（16.95±0.82 vs. 17.58±0.83，p = 0.091），但最初接受GRS的参与者表示更希望找到改善健康的方法作为参与的理由（OR：0.53（95%CI：0.29，0.94），p = 0.028）。两组对基因检测的认知也都良好（15.29±0.39 vs. 15.12±0.40，p = 0.835）。最初接受GRS的参与者更倾向于向家人和朋友推荐基因检测（分别为9.95±1.88 vs. 10.52±2.17，p = 0.023）。在MI - GENES研究中，研究参与者参与基因检测的动机和认知总体良好。基因风险披露与向家人和朋友推荐基因检测的动机增加有关。
