Zebrack Jane E, Yang Wei, Milone Matthew, Coppes Max J
Duke University, Durham, NC, USA.
School of Public Health, University of Nevada, Reno, Reno, NV, USA.
J Community Genet. 2022 Aug;13(4):403-410. doi: 10.1007/s12687-022-00591-2. Epub 2022 May 21.
Although genetic testing can be vastly informative, it creates a dilemma if a patient does not want to disclose an abnormal genetic test to at-risk relatives. A sample of 200 participants from Nevada (100 physicians, 100 non-physicians) completed an 11-item questionnaire asking demographic information, familiarity with genetics and genetic testing, and opinions about a physician's role in a hypothetical case in which a patient does not wish to communicate her BRCA1 mutation to her sister. Although most respondents did not think the physician should notify the sister against the patient's wishes, more non-physicians (40%) than physicians (23%) contended that the physician should do so (p = 0.0119). Most respondents from both groups agreed that the physician should not have the legal duty to notify the sister, would not be morally justified in sharing genetic test results with the sister, but should have the right to notify a patient's relatives if the disease is "serious, preventable, and treatable." More non-physicians than physicians agreed that physicians should have an educational requirement on how to communicate genetic test results to patients and their family (88% vs 65%, p = 0.0002). Most physicians (70%) reported a familiarity/strong familiarity with genetic testing compared to non-physicians (33%; p < 0.0001). Future qualitative research should assess physicians' understanding of issues surrounding familial communication of genetic test results. Educational interventions to facilitate effective communication to patients and families are needed and welcomed by most physicians. Discrepancies between the attitudes of physicians and patients or the public need to be better understood and addressed.
尽管基因检测能提供大量信息,但如果患者不想将异常的基因检测结果告知有风险的亲属,就会产生两难困境。从内华达州抽取的200名参与者(100名医生、100名非医生)完成了一份包含11个项目的问卷,问卷询问了人口统计学信息、对遗传学和基因检测的熟悉程度,以及在一个假设案例中对医生角色的看法,该案例中一名患者不想将其BRCA1突变告知她的姐姐。尽管大多数受访者认为医生不应违背患者意愿通知其姐姐,但主张医生应该这样做的非医生(40%)比医生(23%)更多(p = 0.0119)。两组中的大多数受访者都认为医生没有法律义务通知其姐姐,与姐姐分享基因检测结果在道德上不合理,但如果疾病“严重、可预防且可治疗”,医生有权通知患者的亲属。主张医生应该接受关于如何向患者及其家人传达基因检测结果的教育要求的非医生比医生更多(88%对65%,p = 0.0