Genetic results have implications not only for the individual, but also for their family members. Research on family communication of genetic results has primarily focused on families affected by adult‐onset, dominant conditions as well as more common genetic conditions such as familial hypercholesterolemia, cardiomyopathies, and genetic hearing loss. This study therefore aimed to characterize genetic result communication in families with rare and undiagnosed conditions and identify factors that influence communication. One hundred and forty‐two individuals who received a diagnosis from the Undiagnosed Diseases Network (UDN), a study focused on providing diagnoses to individuals with undiagnosed conditions, were eligible to complete a survey assessing genetic results communication. Survey items assessed if communication was discussed with healthcare providers, with whom participants communicated genetic testing, why they chose to communicate with these family members, and what information they communicated. All respondents (5 adult UDN participants, 38 parents/guardians of UDN participants, and 2 identifying as both) shared genetic results with at least one family member. Individuals who identified as both were considered exclusively adult participants for the purpose of these analyses. Adult participants and parents/guardians of participants reported high levels of understanding (96%), utility (96%), and comfort communicating genetic results (89%). Additionally, parents/guardians were more likely to disclose genetic results due to a general desire to share (60% of parents/guardians vs. 14% adult participants), while adult participants reported that they shared results to communicate risk to family members (86% of adult participants vs. 24% of parents/guardians). Many respondents did not recall discussing with a healthcare provider how (64%) or what (42%) to communicate about results. The results of this study provide insight into the practice of result communication by individuals with rare and previously undiagnosed conditions, which can ideally inform development of more effective counseling strategies and guidelines to aid family communication.

中文翻译：

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罕见和未确诊疾病社区中的家族遗传结果交流：理解实践

遗传结果不仅对个人有影响，而且对他们的家庭成员也有影响。关于遗传结果的家庭交流的研究主要集中在受成年发病、显性条件以及更常见的遗传条件影响的家庭，如家族性高胆固醇血症、心肌病和遗传性听力损失。因此，本研究旨在描述具有罕见和未确诊疾病的家庭的遗传结果交流，并确定影响交流的因素。142 名从未确诊疾病网络 (UDN) 获得诊断的人有资格完成一项评估遗传结果交流的调查。调查项目评估了是否与医疗保健提供者讨论了沟通，参与者与他们沟通了基因检测，他们为什么选择与这些家庭成员沟通，以及他们沟通了哪些信息。所有受访者（5 名成人 UDN 参与者、38 名 UDN 参与者的父母/监护人，以及 2 名两者兼有）与至少一名家庭成员共享基因结果。出于这些分析的目的，确定为两者的个人仅被视为成人参与者。成年参与者和参与者的父母/监护人报告说，他们对遗传结果的理解程度（96%）、效用（96%）和舒适地交流遗传结果（89%）。此外，由于普遍希望分享，父母/监护人更有可能披露基因结果（60% 的父母/监护人对 14% 的成人参与者），而成年参与者报告说他们分享结果以向家庭成员传达风险（86% 的成年参与者与 24% 的父母/监护人）。许多受访者不记得与医疗保健提供者讨论如何（64%）或什么（42%）就结果进行沟通。这项研究的结果提供了对患有罕见和以前未确诊的疾病的个人进行结果沟通的实践的见解，这可以理想地为制定更有效的咨询策略和指南以帮助家庭沟通提供信息。