Neonatologists' Attitudes About Diagnostic Whole-Genome Sequencing in the NICU
Neonatologists' Attitudes About Diagnostic Whole-Genome Sequencing in the NICU
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DOI：
10.1542/peds.2018-1099j
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发表时间：
2019-01-01
期刊：
影响因子：
8
通讯作者：
Lantos, John D.
中科院分区：
文献类型：
--
作者：
Knapp, Brett;Decker, Carole;Lantos, John D.
使用焦点小组方法，我们研究了新生儿科医生对新生儿重症监护室危重新生儿的诊断性快速基因组测序的态度。一个焦点小组在全基因组测序测试可用后的第一年内举行，另一个焦点小组在三年后举行。使用扎根理论的标准技术对焦点小组进行录音、转录和分析。不同的分析师根据主题对它们进行编码。随后，分析师们讨论了分歧并就主要主题达成了一致。 12名医生参加第一焦点小组，9名医生参加第二焦点小组； 62% 是主治医师，其余的是研究员。其中有 14 名女性和 7 名男性。我们没有收集参与者的任何其他人口统计信息。令人惊讶的是，我们发现早期的焦点小组和后来的焦点小组之间几乎没有什么区别。评论分为 4 个领域：(1) 结果解释的不确定性，(2) 有关父母同意和了解基因组信息权利的限制的问题，(3) 关于基因组结果是否以及如何在临床上有用的不同意见，以及 (4) 基因组测试的潜在危害。
Using focus group methodology, we studied the attitudes of neonatologists regarding diagnostic rapid genome sequencing for newborns who were critically ill in a NICU. One focus group took place within the first year after whole-genome sequencing testing became available, and another focus group took place 3 years later. Focus groups were audiotaped, transcribed, and analyzed by using standard techniques of grounded theory. Different analysts coded them for themes. The analysts then discussed differences and agreed on major themes. Twelve doctors participated in the first focus group, and 9 doctors participated in the second; 62% were attending physicians, and the rest were fellows. There were 14 women and 7 men. We did not collect any other demographic information on participants. Surprisingly, we found few differences between the earlier focus group and the later one. Comments were categorized as falling into 4 domains: (1) uncertainty about the interpretation of results, (2) issues about parental consent and limits on their right to know genomic information, (3) different opinions about whether and how genomic results could be clinically useful, and (4) potential harms of genomic testing.