Considerable resources have been invested in research to identify pathogenic and likely pathogenic variants that cause morbidity and mortality and also in returning these results to patients. The public health impact and cost-effectiveness of these efforts are maximized when probands’ relatives are informed of their risk and offered testing. However, such ‘Traceback’ cascade testing programs face multiple obstacles, including perceived or actual legal and regulatory hurdles. Here, using genetic cancer syndromes as a test case, we explore the contours of the Public Health Exception to the HIPAA Privacy Rule to assess whether it is a viable pathway for implementing a Traceback program. After examining the Privacy Rule as well as state laws and regulations for reportable conditions and genetic privacy, we conclude that this is not currently a viable approach for Traceback programs. We conclude by reflecting on ethical considerations of leveraging HIPAA’s public health exception to disclose PHI directly to at-risk relatives and offering insights for how legal hurdles to such a Traceback program could be overcome, if desired.

中文翻译：

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探索获取基因组风险信息和 HIPAA 公共卫生例外的轮廓

已投入大量资源进行研究，以确定导致发病率和死亡率的致病性和可能致病性变异，并将这些结果返回给患者。当先证者的亲属被告知他们的风险并提供检测时，这些努力的公共卫生影响和成本效益将最大化。然而，此类“追溯”级联测试程序面临多重障碍，包括感知到的或实际的法律和监管障碍。在这里，我们使用遗传性癌症综合征作为测试案例，探讨 HIPAA 隐私规则的公共卫生例外情况的轮廓，以评估它是否是实施追溯计划的可行途径。在检查了隐私规则以及有关可报告条件和遗传隐私的州法律法规之后，我们的结论是，这目前不是追溯程序的可行方法。最后，我们反思了利用 HIPAA 的公共卫生例外直接向高危亲属披露 PHI 的伦理考虑，并提供了有关如何在需要时克服此类追溯计划的法律障碍的见解。