Background Genomic assessment previously took months to result and was unable to impact clinical care in the pediatric intensive care unit (PICU). The advent of rapid exome sequencing potentially changes this. We investigated the impact of rapid exome sequencing in a pilot study on pediatric patients admitted to a single PICU with new-onset metabolic/neurologic disease. Methods Rapid exome sequencing (7 days to verbal result) was performed on ( n = 10) PICU patients age < 6 years admitted with new-onset metabolic/neurologic disease. The primary outcome of interest was inpatient LOS, which served as a proxy for inpatient cost. Results A significant reduction in median LOS was identified when comparing PICU patients who underwent rapid exome sequencing to historical controls. From those patients who underwent rapid sequencing, five had likely pathogenic variants. In three cases with diagnostic genetic results, there was a modification to clinical care attributable to information provided by exome sequencing. Conclusions This pilot study demonstrates that rapid exome sequencing is feasible to do in the PICU, that genetic results can be returned quickly enough to impact critical care decision-making and management. In a select population of PICU patients, this technology may contribute to a decrease in hospital length of stay. Impact Ten prospectively enrolled PICU patients with defined clinical criteria and their parents underwent rapid exome sequencing. Fifty percent received a genetic diagnosis, and medical management was affected for 60% of those patients. Median hospital LOS was significantly decreased in this selective subset of PICU patients. Genetic disorders and congenital anomalies are a leading cause of pediatric mortality. Genomic assessment previously took weeks to months for results and was therefore unable to acutely impact clinical care in the pediatric intensive care unit (PICU). The recent advent of rapid exome sequencing changes this in selected patients. Rapid exome sequencing is feasible to do in a PICU. Genetic results can be returned quickly enough to impact critical care decision-making. When done in a carefully selected subset of pediatric patients, rapid exome sequencing can potentially decrease hospital LOS.

中文翻译：

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新发代谢或神经系统疾病 PICU 患者的快速外显子组测序

背景 基因组评估以前需要数月才能得出结果，并且无法影响儿科重症监护病房 (PICU) 的临床护理。快速外显子组测序的出现可能会改变这一点。我们在一项试点研究中调查了快速外显子组测序对入住单一 PICU 的新发代谢/神经系统疾病的儿科患者的影响。方法对 (n = 10) 年龄 < 6 岁的新发代谢/神经系统疾病 PICU 患者进行快速外显子组测序（7 天获得口头结果）。感兴趣的主要结果是住院 LOS，它作为住院费用的代理。结果 当将接受快速外显子组测序的 PICU 患者与历史对照组进行比较时，发现中位 LOS 显着降低。从那些接受快速测序的患者中，五个有可能的致病变异。在具有诊断遗传结果的三个案例中，由于外显子组测序提供的信息，临床护理发生了变化。结论 这项初步研究表明，在 PICU 中进行快速外显子组测序是可行的，遗传结果可以足够快地返回以影响重症监护决策和管理。在特定的 PICU 患者群体中，这项技术可能有助于缩短住院时间。影响 10 名前瞻性纳入具有明确临床标准的 PICU 患者及其父母接受了快速外显子组测序。50% 的患者接受了基因诊断，其中 60% 的患者的医疗管理受到影响。在这个选择性的 PICU 患者亚组中，医院 LOS 中位数显着降低。遗传疾病和先天性异常是儿童死亡的主要原因。基因组评估以前需要数周到数月的时间才能得出结果，因此无法对儿科重症监护病房 (PICU) 的临床护理产生重大影响。最近出现的快速外显子组测序改变了选定患者的这一状况。在 PICU 中进行快速外显子组测序是可行的。遗传结果可以足够快地返回，以影响重症监护决策。当在精心挑选的儿科患者子集中进行时，快速外显子组测序可能会降低医院的 LOS。最近出现的快速外显子组测序改变了选定患者的这一状况。在 PICU 中进行快速外显子组测序是可行的。遗传结果可以足够快地返回，以影响重症监护决策。当在精心挑选的儿科患者子集中进行时，快速外显子组测序可能会降低医院的 LOS。最近出现的快速外显子组测序改变了选定患者的这一状况。在 PICU 中进行快速外显子组测序是可行的。遗传结果可以足够快地返回，以影响重症监护决策。当在精心挑选的儿科患者子集中进行时，快速外显子组测序可能会降低医院的 LOS。