Purpose

Findings from genomic sequencing can have important implications for patients and family members. Yet, when a patient does not consent to the disclosure of genetic information to relatives, it is unclear how health-care professionals (HCPs) should balance their responsibilities toward patients and their family members and whether breaches in confidentiality are warranted.

Methods

We conducted a systematic review of normative documents to understand how HCPs should discuss and facilitate family disclosure, and what should be done in cases where the patient does not consent to disclosure.

Results

We analyzed 35 documents from advisory committees at the national, European, and international level. We identified discrepancies regarding the recommended role of HCPs in disclosure. While almost all normative documents supported the disclosure of genetic information without patient consent in limited conditions, the conditions for disclosure were often not well defined. Documents provided varying degrees of information regarding what actions HCPs must take in such situations.

Conclusion

Our findings present concerns regarding the ability of these normative documents to guide HCPs’ decision making around the disclosure of genetic information to family members. Clearer guidance outlining the responsibilities and acceptability of disclosure is necessary to facilitate disclosure of genetic information to family members.

中文翻译：

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向家庭成员披露遗传信息：对规范性文件的系统评价

目的

基因组测序的发现可能对患者和家庭成员产生重要影响。然而，当患者不同意向亲属披露遗传信息时，尚不清楚医疗保健专业人员 (HCP) 应如何平衡他们对患者及其家人的责任，以及是否有理由违反保密规定。

方法

我们对规范性文件进行了系统审查，以了解 HCP 应如何讨论和促进家庭披露，以及在患者不同意披露的情况下应采取的措施。

结果

我们分析了来自国家、欧洲和国际层面的咨询委员会的 35 份文件。我们发现了有关 HCP 在披露中的推荐作用的差异。虽然几乎所有规范性文件都支持在有限的条件下未经患者同意而披露遗传信息，但披露的条件往往没有明确界定。文件提供了关于 HCP 在这种情况下必须采取的行动的不同程度的信息。

结论

我们的研究结果对这些规范性文件指导 HCP 围绕向家庭成员披露遗传信息的决策的能力提出了担忧。有必要提供更清晰的指南，概述披露的责任和可接受性，以促进向家庭成员披露遗传信息。