What Results Should Be Returned from Opportunistic Screening in Translational Research?
What Results Should Be Returned from Opportunistic Screening in Translational Research?
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DOI：
10.3390/jpm10010013
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发表时间：
2020-03-01
影响因子：
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通讯作者：
Clayton, Ellen W.
中科院分区：
文献类型：
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作者：
Halverson, Colin M. E.;Jones, Sarah H.;Clayton, Ellen W.
越来越多没有临床指征的患者正在接受基因组测试。本研究的目的是评估他们对测试结果的理解和理解以及临床医生的反应。我们对范德比尔特电子病历和基因组学 (eMERGE) 队列的参与者进行了 675 项调查。我们采访了 36 名参与者：19 人收到了积极的结果，17 人是自我认定的少数族裔。采访了 11 名参与过 eMERGE 患者的临床医生。另外 21 名临床医生完成了调查。参与者自发地承认对 eMERGE 研究返回的信息知之甚少或根本不了解。然而，他们同时表示，他们普遍认为检测是“有帮助的”，即使它没有为他们的医疗保健提供信息。初级保健医生对被要求为患者解释结果表示不舒服，并将其描述为一种过度的负担。向其他健康的患者提供基因检测引发了许多值得认真考虑的伦理问题。尽管我们的参与者热衷于登记和接收结果，但他们对结果对他们的医疗保健意味着什么表示理解有限。这一事实，加上临床医生的担忧，敦促在教育和招募参与者参加临床非适应症测试时更加谨慎。
Increasingly, patients without clinical indications are undergoing genomic tests. The purpose of this study was to assess their appreciation and comprehension of their test results and their clinicians' reactions. We conducted 675 surveys with participants from the Vanderbilt Electronic Medical Records and Genomics (eMERGE) cohort. We interviewed 36 participants: 19 had received positive results, and 17 were self-identified racial minorities. Eleven clinicians who had patients who had participated in eMERGE were interviewed. A further 21 of these clinicians completed surveys. Participants spontaneously admitted to understanding little or none of the information returned to them from the eMERGE study. However, they simultaneously said that they generally found testing to be "helpful," even when it did not inform their health care. Primary care physicians expressed discomfort in being asked to interpret the results for their patients and described it as an undue burden. Providing genetic testing to otherwise healthy patients raises a number of ethical issues that warrant serious consideration. Although our participants were enthusiastic about enrolling and receiving their results, they express a limited understanding of what the results mean for their health care. This fact, coupled the clinicians' concern, urges greater caution when educating and enrolling participants in clinically non-indicated testing.