Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings
Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings
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DOI：
10.1038/gim.2017.243
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发表时间：
2018-10-01
影响因子：
8.8
通讯作者：
Goddard, Katrina A. B.
中科院分区：
文献类型：
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作者：
Christensen, Kurt D.;Bernhardt, Barbara A.;Goddard, Katrina A. B.
目的：基因组测序的次要发现变得越来越普遍。我们比较了接受过和未接受过专门遗传学培训的医疗保健提供者如何预期对不同类型的次要发现的反应。方法：具有基因组测序经验的提供者审查了五份次要发现报告，并报告了态度和潜在的临床随访。分析比较了未经专门遗传学培训的遗传专家和医生，并检查了二次发现的反应如何变化。结果：在评估对报告的理解的四点量表上，遗传专家的得分高于其他提供者（3.89 vs. 3.42，p = 0.0002），在评估报告义务（2.60 vs. 3.51，p < 0.0001）和响应负担的量表上得分较低（1.73 vs. 3.42，p = 0.0002）。 2.70，p < 0.0001）。几乎所有人对研究结果的态度都不同，尽管当研究结果的可操作性尚不明确时，遗传专家更有可能断言实验室没有义务（相互作用测试中p < 0.0001）。审查个人和家族史、记录发现、更多地了解变异以及建议进行家族讨论的重要性也根据发现的不同而有所不同（所有 p < 0.0001）。 结论：与没有接受过专门遗传学培训的提供者相比，遗传专家感觉对次要发现的反应做好了更好的准备，但认为实验室报告这些结果的义务较少，并且两组预期有类似的临床反应。研究结果可以为有针对性的教育和支持的发展提供信息。
Purpose: Secondary findings from genomic sequencing are becoming more common. We compared how health-care providers with and without specialized genetics training anticipated responding to different types of secondary findings.Methods: Providers with genomic sequencing experience reviewed five secondary-findings reports and reported attitudes and potential clinical follow-up. Analyses compared genetic specialists and physicians without specialized genetics training, and examined how responses varied by secondary finding.Results: Genetic specialists scored higher than other providers on four-point scales assessing understandings of reports (3.89 vs. 3.42, p = 0.0002), and lower on scales assessing reporting obligations (2.60 vs. 3.51, p < 0.0001) and burdens of responding (1.73 vs. 2.70, p < 0.0001). Nearly all attitudes differed between findings, although genetic specialists were more likely to assert that laboratories had no obligations when findings had less-established actionability (p < 0.0001 in interaction tests). The importance of reviewing personal and family histories, documenting findings, learning more about the variant, and recommending familial discussions also varied according to finding (all p < 0.0001).Conclusion: Genetic specialists felt better prepared to respond to secondary findings than providers without specialized genetics training, but perceived fewer obligations for laboratories to report them, and the two groups anticipated similar clinical responses. Findings may inform development of targeted education and support.