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发育迟缓、智力残疾和自闭症谱系障碍儿童的基因检测率较低。

Low Rates of Genetic Testing in Children With Developmental Delays, Intellectual Disability, and Autism Spectrum Disorders.

作者信息

Peabody John, DeMaria Lisa, Tamandong-LaChica Diana, Florentino Jhiedon, Acelajado Maria Czarina, Burgon Trever

机构信息

QURE Healthcare, San Francisco, CA, USA; University of California, San Francisco and Los Angeles, USA.

QURE Healthcare, San Francisco, CA, USA.

出版信息

Glob Pediatr Health. 2015 Dec 24;2:2333794X15623717. doi: 10.1177/2333794X15623717. eCollection 2015.

Abstract

To explore the routine and effective use of genetic testing for patients with intellectual disability and developmental delay (ID/DD), we conducted a prospective, randomized observational study of 231 general pediatricians (40%) and specialists (60%), using simulated patients with 9 rare pediatric genetic illnesses. Participants cared for 3 randomly assigned simulated patients, and care responses were scored against explicit evidence-based criteria. Scores were calculated as a percentage of criteria completed. Care varied widely, with a median overall score of 44.7% and interquartile range of 36.6% to 53.7%. Diagnostic accuracy was low: 27.4% of physicians identified the correct primary diagnosis. Physicians ordered chromosomal microarray analysis in 55.7% of cases. Specific gene sequence testing was used in 1.4% to 30.3% of cases. This study demonstrates that genetic testing is underutilized, even for widely available tests. Further efforts to educate physicians on the clinical utility of genetic testing may improve diagnosis and care in these patients.

摘要

为探索针对智力残疾和发育迟缓(ID/DD)患者进行基因检测的常规且有效应用,我们对231名普通儿科医生(40%)和专科医生(60%)开展了一项前瞻性随机观察研究,使用患有9种罕见儿科遗传疾病的模拟患者。参与者照料3名随机分配的模拟患者,并根据明确的循证标准对护理反应进行评分。分数计算为完成标准的百分比。护理差异很大,总体中位数得分为44.7%,四分位间距为36.6%至53.7%。诊断准确性较低:27.4%的医生识别出正确的初步诊断。55.7%的病例中医生开具了染色体微阵列分析。1.4%至30.3%的病例中使用了特定基因序列检测。这项研究表明,即使是对于广泛可用的检测,基因检测的利用也不足。进一步努力对医生进行基因检测临床应用方面的教育,可能会改善这些患者的诊断和护理。

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