Brown Sherry-Ann N, Jouni Hayan, Marroush Tariq S, Kullo Iftikhar J
From the Department of Cardiovascular Diseases, Mayo Clinic, Rochester, MN (S.-A.N.B., H.J., T.S.M., I.J.K.).
Circ Cardiovasc Genet. 2017 Aug;10(4). doi: 10.1161/CIRCGENETICS.116.001613.
Whether disclosing genetic risk for coronary heart disease (CHD) to individuals influences information seeking and information sharing is not known. We hypothesized that disclosing genetic risk for CHD to individuals influences information seeking and sharing.
The MI-GENES study (Myocardial Infarction Genes) randomized participants (n=203) aged 45 to 65 years who were at intermediate CHD risk based on conventional risk factors and not on statins to receive their conventional risk score alone or also a genetic risk score based on 28 variants. CHD risk was disclosed by a genetic counselor and then discussed with a physician. Surveys assessing information seeking were completed before and after risk disclosure. Information sharing was assessed post-disclosure. Six-month post-disclosure, genetic risk score participants were more likely than conventional risk score participants to visit a website to learn about CHD (odds ratio [OR], 4.88 [confidence interval (CI), 1.55-19.13]; =0.01), use the internet for information about how genetic factors affect CHD risk (OR, 2.11 [CI, 1.03-4.47]; =0.04), access their CHD risk via a patient portal (OR, 2.99 [CI, 1.35-7.04]; =0.01), and discuss their CHD risk with others (OR, 3.13 [CI, 1.41-7.47]; =0.01), particularly their siblings (OR, 1.92 [CI, 1.06-3.51]; =0.03), extended family (OR, 3.8 [CI, 1.37-12.38]; 0.01), coworkers (OR, 2.42 [CI, 1.09-5.76]; =0.03), and primary care provider (PCP; OR, 2.00 [CI, 1.08-3.75]; =0.03).
Disclosure of a genetic risk score for CHD increased information seeking and sharing.
URL: https://clinicaltrials.gov/. Unique identifier: NCT01936675.
向个体披露冠心病（CHD）的遗传风险是否会影响信息寻求和信息共享尚不清楚。我们假设向个体披露冠心病的遗传风险会影响信息寻求和共享。
MI-GENES研究（心肌梗死基因研究）将年龄在45至65岁之间、基于传统风险因素而非他汀类药物处于中度冠心病风险的参与者（n = 203）随机分组，使其仅获得传统风险评分或同时获得基于28个变异体的遗传风险评分。遗传咨询师会披露冠心病风险，然后与医生进行讨论。在风险披露前后完成评估信息寻求的调查。在披露后评估信息共享情况。披露六个月后，与仅获得传统风险评分的参与者相比，获得遗传风险评分的参与者更有可能访问网站了解冠心病（优势比[OR]，4.88[置信区间(CI)，1.55 - 19.13]；P = 0.01），利用互联网获取有关遗传因素如何影响冠心病风险的信息（OR，2.11[CI，1.03 - 4.47]；P = 0.04），通过患者门户获取其冠心病风险（OR，2.99[CI，1.35 - 7.04]；P = 0.01），并与他人讨论其冠心病风险（OR，3.13[CI，1.41 - 7.47]；P = 0.01），特别是与他们的兄弟姐妹（OR，1.92[CI，1.06 - 3.51]；P = 0.03）、大家庭成员（OR，3.8[CI，1.37 - 12.38]；P = 0.01）、同事（OR，2.42[CI，1.09 - 5.76]；P = 0.03）以及初级保健提供者（PCP；OR，2.00[CI，1.08 - 3.75]；P = 0.03）。
披露冠心病的遗传风险评分增加了信息寻求和共享。
