There is ongoing debate on whether and what research genetic results to return to study participants. To date, no study in this area has focused on aortopathy populations despite known genes that are clinically actionable. Participants (n = 225, 79% male, mean age = 61 years) with an aortopathy were surveyed to assess preferences for receiving research genetic results. Participants were ‘very’ or ‘extremely likely’ to want results for pathogenic variants in aortopathy genes with implications for family members (81%) or that would change medical management (76%). Similarly, participants were ‘very’ or ‘extremely likely’ to want actionable secondary findings related to cancer (75%) or other cardiac diseases (70%). Significantly lower interest was observed for non-actionable findings—pathogenic variants in aortopathy genes that would not change medical management (51%) and variants of uncertain significance (38%) (p < .0001). Higher health and genomic literacy were positively associated with interest in actionable findings. Most participants (>63%) were accepting of any means of return; however, a substantial minority (18%–38%) deemed certain technological means unacceptable (e.g., patient portal). Over 90% of participants reported that a range of health professionals, including cardiovascular specialists, genetics specialists, and primary care providers, were acceptable to return results. Participants with aortopathies are highly interested in research genetic results perceived to be medically actionable for themselves or family members. Participants are accepting of a variety of means for returning results. Findings suggest that research participants should be asked what results are preferred at time of informed consent and that genetic counseling may clarify implications of results that are not personally medically actionable.

中文翻译：

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主动脉疾病生物样本库参与者对返回研究基因结果的偏好调查

关于是否以及将哪些研究遗传结果返回给研究参与者的争论一直存在。迄今为止，尽管已知基因在临床上是可行的，但该领域的研究还没有关注主动脉病变人群。参与者（n = 225，79% 男性，平均年龄 = 61 岁）进行了调查，以评估接受研究遗传结果的偏好。参与者“非常”或“极有可能”希望得到对家庭成员有影响（81%）或会改变医疗管理（76%）的主动脉病变基因致病变异的结果。同样，参与者“非常”或“极有可能”想要与癌症（75%）或其他心脏病（70%）相关的可操作的二次发现。观察到对不可操作的发现的兴趣显着降低 - 主动脉病基因中不会改变医疗管理的致病性变异 (51%) 和意义不确定的变异 (38%) ( p < .0001)。较高的健康和基因组素养与对可操作发现的兴趣呈正相关。大多数参与者 (>63%) 接受任何回报方式；然而，相当一部分人 (18%–38%) 认为某些技术手段是不可接受的（例如，患者门户网站）。超过 90% 的参与者报告说，包括心血管专家、遗传学专家和初级保健提供者在内的一系列卫生专业人员可以接受返回结果。患有主动脉病的参与者对被认为对他们自己或家庭成员在医学上可行的研究遗传结果非常感兴趣。参与者正在接受各种返回结果的方式。