As the use and scope of direct‐to‐consumer genetic testing (DTC GT), also becoming known as consumer‐driven genetic testing, increases, consumers may seek genetic counseling to understand their results and determine healthcare implications. In this study, we interviewed individuals who sought genetic counseling after receiving DTC GT results to explore their motivations, expectations, and experiences. Participants were recruited from the Impact of Personal Genomics (PGen) Study, a longitudinal cohort study of DTC GT customers. We interviewed 15 participants (9 females, mean age = 38 years) by telephone and analyzed the double‐coded transcripts using qualitative methods. Motivations for genetic counseling included family and personal health histories, concern and confusion about results, and information‐seeking; of note, one‐third of our interview participants had Ehlers‐Danlos syndrome Type III (hypermobility type). Expectations of genetic counseling sessions were high. Participants generally saw DTC GT results as valid and potentially impactful for their healthcare, wanted more thorough explanations in “layman’s terms,” a pooling of their results with their family and personal health history and a “game plan.” Several participants had already accessed online resources, including resources typically used by genetics clinicians. Our results point to several elements of a successful DTC GT genetic counseling session: 1) effective contracting when starting the clinic visit, especially determining motivations for genetic counseling, results that are concerning/confusing and resources already accessed; 2) ascertainment and management of expectations and clearly communicating if and why all results may not be reviewed; 3) explaining how DTC GT differs from clinical genetic testing and why additional testing may not be indicated and 4) listening to (not dismissing) patient concerns about their results. For those patients who seek genetic counseling about DTC GT results, the findings from our study can help inform case preparation and provision of genetic counseling.

中文翻译：

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直接面向消费者的基因检测后的遗传咨询：消费者观点

随着直接面向消费者的基因检测 (DTC GT)（也称为消费者驱动的基因检测）的使用和范围的增加，消费者可能会寻求遗传咨询以了解其结果并确定对医疗保健的影响。在这项研究中，我们采访了在收到 DTC GT 结果后寻求遗传咨询的个人，以探索他们的动机、期望和经历。参与者是从影响个人基因组学 (PGen) 研究中招募的，这是一项针对 DTC GT 客户的纵向队列研究。我们通过电话采访了 15 名参与者（9 名女性，平均年龄 = 38 岁），并使用定性方法分析了双编码的成绩单。遗传咨询的动机包括家庭和个人健康史、对结果的担忧和困惑以及信息寻求；值得注意的是，三分之一的受访者患有 Ehlers-Danlos 综合征 III 型（过度活动型）。对遗传咨询会议的期望很高。参与者普遍认为 DTC GT 结果是有效的，并且可能对他们的医疗保健产生影响，希望以“外行人的术语”进行更彻底的解释，将他们的结果与他们的家庭和个人健康史以及“游戏计划”结合起来。一些参与者已经访问了在线资源，包括遗传学临床医生通常使用的资源。我们的结果指出了成功的 DTC GT 遗传咨询会议的几个要素：1) 在开始临床访问时有效签约，特别是确定遗传咨询的动机、令人担忧/令人困惑的结果和已经访问的资源；2) 确定和管理期望，并清楚地传达是否以及为什么不能审查所有结果；3) 解释 DTC GT 与临床基因检测的不同之处以及为什么可能不需要额外检测以及 4) 倾听（而不是消除）患者对其结果的担忧。对于那些寻求 DTC GT 结果遗传咨询的患者，我们的研究结果可以帮助告知病例准备和遗传咨询的提供。