Influence of Genetic Information on Neonatologists' Decisions: A Psychological Experiment.
Influence of Genetic Information on Neonatologists' Decisions: A Psychological Experiment.
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DOI：
10.1542/peds.2021-052130
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发表时间：
2022-03-01
期刊：
影响因子：
8
通讯作者：
Feudtner C
中科院分区：
文献类型：
--
作者：
Callahan KP;Flibotte J;Skraban C;Wild KT;Joffe S;Munson D;Feudtner C
基因检测正在患病新生儿中扩大，但基因结果对医疗决策的影响尚不清楚。通过这项研究，我们试图确定不同类型的遗传信息对预后的不确定影响如何影响临床医生推荐重症监护与姑息治疗的决定。我们进行了一项全国性的研究，使用分裂样本实验设计的病理学家。问卷包含4个临床小插曲。参与者被随机分配到两个版本中的一个，这些版本仅在是否包括以下遗传发现方面有所不同：（1）不确定意义的变体;（2）影响神经发育但不影响急性生存的遗传诊断;（3）同样严重的病理学的遗传与非遗传病因学;（4）待定的遗传检测结果。医生们回答了关于他们将为每个小插曲中描述的患者提出的建议的问题。包括不确定意义的变体、预示神经发育障碍的诊断或疾病的遗传病因的小插曲版本都与推荐姑息治疗而不是重症监护的可能性增加相关。一个悬而未决的基因测试结果并没有对护理建议产生重大影响。这项假设病例研究的结果表明，神经病学家应用不确定的遗传发现或那些预示着神经发育障碍的方法是有问题的。随着基因检测的扩展，了解如何在决策中使用基因检测并教育临床医生如何正确使用基因检测至关重要。
Genetic testing is expanding among ill neonates, yet the influence of genetic results on medical decision-making is not clear. With this study, we sought to determine how different types of genetic information with uncertain implications for prognosis influence clinicians’ decisions to recommend intensive versus palliative care. We conducted a national study of neonatologists using a split sample experimental design. The questionnaire contained 4 clinical vignettes. Participants were randomly assigned to see one of 2 versions that varied only regarding whether they included the following genetic findings: (1) a variant of uncertain significance; (2) a genetic diagnosis that affects neurodevelopment but not acute survival; (3) a genetic versus nongenetic etiology of equally severe pathology; (4) a pending genetic testing result. Physicians answered questions about recommendations they would make for the patient described in each vignette. Vignette versions that included a variant of uncertain significance, a diagnosis foreshadowing neurodevelopmental impairment, or a genetic etiology of disease were all associated with an increased likelihood of recommending palliative rather than intensive care. A pending genetic test result did not have a significant effect on care recommendations. Findings from this study of hypothetical cases suggest neonatologists apply uncertain genetic findings or those that herald neurodevelopmental disability in problematic ways. As genetic testing expands, understanding how it is used in decision-making and educating clinicians regarding appropriate use are paramount.
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