Division of Newborn Medicine, Department of Pediatrics, Boston Children' Hospital and Harvard Medical School, Boston, MA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA.
Division of Newborn Medicine, Department of Pediatrics, Boston Children' Hospital and Harvard Medical School, Boston, MA; Division of Genetics & Genomics, Department of Pediatrics, Boston Children's Hospital and Harvard Medical School, Boston, MA.
Genet Med. 2022 Jun;24(6):1372-1377. doi: 10.1016/j.gim.2022.02.009. Epub 2022 Mar 15.
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 use 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 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 NICU, and general comfort with ordering and interpreting genetic testing. Demographic data related to the survey participants and characteristics of their NICU were also obtained.
In total, 162 neonatologists completed the survey, representing 40 states and 112 distinct NICUs. Although nearly all (93.2%) neonatologists 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).
Although, among US neonatologists surveyed, most feel that genetic tests are indicated for their patients, these are not always clinically available. Further research into implementation barriers is warranted.
遗传疾病常在新生儿重症监护病房（NICU）出现，检测或确认这些诊断已被证明会影响治疗。然而，NICU 中基因检测（特别是外显子或全基因组测序）的可用性和使用情况差异很大。因此，我们旨在调查全国范围内 NICU 中与基因检测相关的实践模式，以识别和量化潜在的差异。
我们设计了一份通过电子邮件分发给新生儿科医生的调查。该调查包含了与测试可用性和可取性、NICU 中测试订购流程以及对订购和解释基因检测的总体舒适度相关的问题。还获得了与调查参与者相关的人口统计学数据和他们的 NICU 特征。
共有 162 名新生儿科医生完成了调查，代表了 40 个州和 112 个不同的 NICU。尽管几乎所有（93.2%）新生儿科医生都认为为患者确定遗传诊断非常重要，但只有 78%的 NICU 提供遗传咨询，并且外显子或全基因组测序也并非常规提供（69%的 NICU）。
尽管接受调查的美国新生儿科医生中，大多数人认为基因测试对他们的患者有指示作用，但这些测试并非始终在临床上可用。有必要进一步研究实施障碍。
