Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results
Hypertrophic cardiomyopathy genetic test reports: A qualitative study of patient understanding of uninformative genetic test results
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DOI：
10.1002/jgc4.1159
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发表时间：
2019-12-01
影响因子：
1.9
通讯作者：
Morales, Ana
中科院分区：
文献类型：
--
作者：
Nightingale, Brooke M.;Hovick, Shelly R.;Morales, Ana
研究表明，肥厚型心肌病（HCM）患者可能会误解无信息的基因检测结果的含义，认为这意味着排除了遗传病因和家庭成员的风险。我们推测，对实验室基因检测报告的理解不佳可能导致这种误解。我们进行了一项定性研究，以检查病人的理解，无信息的实验室结果和报告，并征求意见，改进报告。15名HCM参与者在接受基因检测并收到报告后接受了采访。虽然所有患者都阅读了报告，但大多数参与者仅部分阅读了报告。大多数参与者报告根本不理解报告或仅部分理解报告，因为提供者向他们解释了报告。一些与会者说，报告有助于理解他们的结果，但有证据表明存在误解;大多数与会者说，报告的某些方面没有帮助。虽然我们的大多数参与者与亲属沟通风险，但没有人说报告有助于沟通。大多数参与者没有回忆起或发现随附的医生指导的结果信对他们的理解或家庭沟通有用。许多与会者表示需要一份补充报告，说明个性化的临床“行动计划”，总结结果对患者及其家人的临床和家庭影响。我们的结论是，实验室报告和医生指示的结果信并没有帮助参与者理解他们的结果或其家庭影响。我们的研究结果表明，研究机会，以探索实用的病人为导向的结果补充，以提高患者的理解基因检测结果，并通过病人的行动计划概述临床建议。
Studies have shown that patients with hypertrophic cardiomyopathy (HCM) may misinterpret the meaning of uninformative genetic testing results to mean that a genetic etiology and family members' risk is ruled out. We hypothesized that poor comprehension of the laboratory genetic test report may contribute to this misunderstanding. We conducted a qualitative study to examine patient understanding of uninformative laboratory results and reports and elicit suggestions for an improved report. Fifteen participants with HCM were interviewed after undergoing genetic testing and receiving their report. While all patients read the report, most participants reported only partially reading it. Most reported not understanding the report at all or only partially understanding it because a provider explained it to them. Some participants said that the report was helpful for understanding their result, but there was evidence of misunderstanding; most participants stated that specific aspects of the report were unhelpful. While most of our participants communicated risk with relatives, none said that the report helped with the communication. Most participants did not recall or find the accompanying physician-directed result letter useful for their understanding or familial communication. Many participants expressed need for a supplemental report that illustrates a personalized clinical `action plan' that could summarize clinical and familial implications of the result for the patient and their family. We conclude that laboratory reports and physician-directed result letters did not help participants understand their results or their familial implications. Our results suggest opportunities for research to explore the utility of a patient-directed result supplement to improve patient comprehension of genetic test results and outline clinical recommendations via a patient action plan.