Brown Sherry-Ann, Jouni Hayan, Marroush Tariq S, Kullo Iftikhar J
Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
Department of Cardiovascular Diseases, Mayo Clinic, Rochester, Minnesota.
Am J Prev Med. 2017 Apr;52(4):499-506. doi: 10.1016/j.amepre.2016.11.005. Epub 2017 Jan 3.
Incorporating genetic risk information in electronic health records (EHRs) will facilitate implementation of genomic medicine in clinical practice. However, little is known about patients' attitudes toward incorporation of genetic risk information as a component of personal health information in EHRs. This study investigated whether disclosure of a genetic risk score (GRS) for coronary heart disease influences attitudes toward incorporation of personal health information including genetic risk in EHRs.
Participants aged 45-65 years with intermediate 10-year coronary heart disease risk were randomized to receive a conventional risk score (CRS) alone or with a GRS from a genetic counselor, followed by shared decision making with a physician using the same standard presentation and information templates for all study participants. The CRS and GRS were then incorporated into the EHR and made accessible to both patients and physicians. Baseline and post-disclosure surveys were completed to assess whether attitudes differed by GRS disclosure. Data were collected from 2013 to 2015 and analyzed in 2015-2016.
GRS and CRS participants reported similar positive attitudes toward incorporation of genetic risk information in the EHR. Compared with CRS participants, participants with high GRS were more concerned about the confidentiality of genetic risk information (OR=3.67, 95% CI=1.29, 12.32, p=0.01). Post-disclosure, frequency of patient portal access was associated with positive attitudes.
Participants in this study of coronary heart disease risk disclosure overall had positive attitudes toward incorporation of genetic risk information in EHRs, although those who received genetic risk information had concerns about confidentiality.
将遗传风险信息纳入电子健康记录（EHR）将有助于在临床实践中实施基因组医学。然而，对于患者将遗传风险信息作为EHR中个人健康信息的一部分的态度知之甚少。本研究调查了冠心病遗传风险评分（GRS）的披露是否会影响对在EHR中纳入包括遗传风险在内的个人健康信息的态度。
年龄在45 - 65岁、10年冠心病风险中等的参与者被随机分为仅接受传统风险评分（CRS）或接受遗传咨询师提供的GRS，然后与医生进行共同决策，所有研究参与者使用相同的标准呈现方式和信息模板。然后将CRS和GRS纳入EHR，患者和医生均可访问。完成基线和披露后调查以评估态度是否因GRS披露而有所不同。数据于2013年至2015年收集，并于2015年至2016年进行分析。
GRS组和CRS组参与者对在EHR中纳入遗传风险信息报告了相似的积极态度。与CRS组参与者相比，高GRS参与者更担心遗传风险信息的保密性（OR = 3.67，95% CI = 1.29，12.32，p = 0.01）。披露后，患者门户访问频率与积极态度相关。
本冠心病风险披露研究的参与者总体上对在EHR中纳入遗传风险信息持积极态度，尽管那些收到遗传风险信息的人担心保密性。
