Perspectives of United States neonatologists on genetic testing practices.
Perspectives of United States neonatologists on genetic testing practices.
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DOI：
10.1016/j.gim.2022.02.009
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发表时间：
2022-06
影响因子：
8.8
通讯作者：
Agrawal, Pankaj B.
中科院分区：
文献类型：
--
作者：
Wojcik, Monica H.;del Rosario, Maya C.;Agrawal, Pankaj B.
遗传性疾病经常出现在新生儿重症监护病房 (NICU) 中，检测或确认这些诊断已被证明会影响护理。然而，NICU 中基因检测（特别是外显子组或基因组测序）的可用性和使用情况差异很大。因此，我们试图调查全国新生儿重症监护室基因检测相关的实践模式，以识别和量化潜在的差异。我们设计了一项调查，并通过电子邮件分发给新生儿科医生。该调查包含与测试可用性和可取性、新生儿重症监护病房 (NICU) 测试订购流程以及对订购和解释基因测试的总体舒适度相关的问题。还获得了与调查参与者及其新生儿重症监护室特征相关的人口统计数据。 162 名新生儿科医生完成了这项调查，代表 40 个州和 112 个不同的 NICU。尽管几乎所有患者 (93.2%) 都高度重视为患者进行基因诊断，但仅 78% 的 NICU 提供基因咨询，并且无法定期提供外显子组或基因组测序（69% 的 NICU）。在接受调查的美国新生儿学家中，尽管大多数人认为基因检测适合他们的患者，但临床上并不总是可用的。有必要进一步研究实施障碍。
Genetic disorders often present in the neonatal intensive care unit (NICU), and detecting or confirming these diagnoses has been shown to impact care. However, the availability and usage of genetic testing, particularly exome or genome sequencing, among NICUs varies widely. We therefore sought to investigate practice patterns related to genetic testing in NICUs around the country in order to identify and quantify potential discrepancies. We designed a survey that was distributed to neonatologists via email. The survey contained questions related to test availability and desirability, the process of test ordering in the NICU, and general comfort with ordering and interpreting genetic testing. Demographic data related to the survey participant and characteristics of their NICU were also obtained. 162 neonatologists completed the survey, representing 40 states and 112 distinct NICUs. While nearly all (93.2%) attributed a high level of importance to identifying a genetic diagnosis for their patients, genetic consultations were only available at 78% of NICUs and exome or genome sequencing was not available on a regular basis (69% of NICUs). Among U.S. neonatologists surveyed, although most feel that genetic tests are indicated for their patients, they are not always clinically available. Further research into implementation barriers is warranted.
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