"What does it mean?": Uncertainties in understanding results of chromosomal microarray testing
"What does it mean?": Uncertainties in understanding results of chromosomal microarray testing
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DOI：
10.1038/gim.2011.52
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发表时间：
2012-02-01
影响因子：
8.8
通讯作者：
Spinner, Nancy B.
中科院分区：
文献类型：
--
作者：
Reiff, Marian;Bernhardt, Barbara A.;Spinner, Nancy B.
目的：与传统的细胞遗传学分析相比，染色体微阵列 (CMA) 技术的灵敏度更高，可以改进对基因组改变的检测。然而，在某些情况下，测试结果的解释可能存在不确定性。本文探讨了家庭如何理解和理解 CMA 检测结果的含义，并确定接受 CMA 检测的家庭的需求。 方法：我们对 25 名儿科门诊患者的家长进行了半结构化访谈，这些患者的 CMA 检测结果表明存在致病性改变或意义不明的变异 (VUS)。对访谈进行定性分析。结果：确定了三个理解领域：对结果的理解、对科学不确定性的解释以及对儿童和家庭的个人意义。对于收到 VUS 和致病类别结果的家庭来说，对测试结果的不完全理解和科学的不确定性是突出的主题。从非遗传学家和通过电话接收结果、长时间等待见到遗传学家以及误导性的互联网搜索都会导致误解。结论：区分理解领域可以识别可以减少或管理的不确定性，从而提高对 CMA 结果的理解。利用这个框架，我们建议采取干预措施，以提高清晰度并满足接受 CMA 测试的家庭的信息需求。基因医学 2012:14(2):250-258
Purpose: The increased sensitivity of chromosomal microarray (CMA) technology as compared with traditional cytogenetic analysis allows for improved detection of genomic alterations. However, there is potential for uncertainty in the interpretation of test results in some cases. This paper explores how families understand and make meaning of CMA test results, and identifies the needs of families undergoing CMA testing.Methods: We conducted semistructured interviews with parents of 25 pediatric outpatients with CMA test results indicating either a pathogenic alteration or a variant of unknown significance (VUS). Interviews were analyzed qualitatively.Results: Three domains of understanding were identified: comprehension of results, interpretations of scientific uncertainty, and personal meaning for the child and family. Incomplete comprehension of test results and scientific uncertainty were prominent themes for families receiving results in both the VUS and pathogenic categories. Receiving results from non-geneticists and by telephone, long waits to see a geneticist, and misleading Internet searches all contributed to misunderstandings.Conclusion: Differentiating domains of understanding allows for the identification of uncertainties that can be reduced or managed in order to improve understanding of CMA results. Using this framework, we suggest interventions to promote clarity and address the informational needs of families undergoing CMA testing. Genet Med 2012:14(2):250-258