Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results
Great expectations: patient perspectives and anticipated utility of non-diagnostic genomic-sequencing results
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DOI：
10.1007/s12687-017-0314-8
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发表时间：
2018-01-01
影响因子：
1.9
通讯作者：
Aufox, Sharon
中科院分区：
文献类型：
--
作者：
Hylind, Robyn;Smith, Maureen;Aufox, Sharon
对于向患者传递临床基因组测序结果的卫生保健提供者来说，二次发现的管理是一项挑战。了解患者对非诊断性基因组测序的期望有助于指导这一管理。这项研究采访了14名参加Emerge(电子医疗记录和基因组学)研究的人。Emerge的参与者同意接受非诊断性基因组测序，接收结果，并将结果返回给他们的医生。访谈评估了对结果的期望和预期用途。大多数受访者是男性(%)，43%的受访者是非高加索人。确定的一个独特主题是，许多参与者对他们预期收到关于哪种疾病的结果、他们想要了解什么结果以及他们打算如何使用这些结果表示不确定。参与者的不确定性突显了决定接受基因组测试的复杂性和基因组知识的不足。这些结果有助于改善与患者讨论基因组测序和二次发现的方式。
The management of secondary findings is a challenge to health-care providers relaying clinical genomic-sequencing results to patients. Understanding patients' expectations from non-diagnostic genomic sequencing could help guide this management. This study interviewed 14 individuals enrolled in the eMERGE (Electronic Medical Records and Genomics) study. Participants in eMERGE consent to undergo non-diagnostic genomic sequencing, receive results, and have results returned to their physicians. The interviews assessed expectations and intended use of results. The majority of interviewees were male (64%) and 43% identified as non-Caucasian. A unique theme identified was that many participants expressed uncertainty about the type of diseases they expected to receive results on, what results they wanted to learn about, and how they intended to use results. Participant uncertainty highlights the complex nature of deciding to undergo genomic testing and a deficiency in genomic knowledge. These results could help improve how genomic sequencing and secondary findings are discussed with patients.