Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit
Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit
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DOI：
10.1111/jpc.14398
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发表时间：
2019-11-01
影响因子：
1.7
通讯作者：
Stark, Zornitza
中科院分区：
文献类型：
--
作者：
Tan, Natalie B.;Tan, Tiong Yang;Stark, Zornitza
目的 研究染色体微阵列和全外显子组测序 (WES) 在新生儿重症监护病房 (NICU) 中的诊断和服务影响。方法 这是对 NICU 患者在 9 年期间的三个时间点在单个中心转诊进行遗传学咨询的回顾性病历审查，以确定转诊适应症、遗传学咨询结果和诊断时间。结果 转诊进行遗传学咨询的 NICU 患者数量从 2007 年的 44 例增加到 2015 年的 95 例。经临床遗传学家评估后怀疑患有遗传性疾病的 NICU 患者比例保持稳定，平均占所有入院患者的 5.3%。确诊患者的比例从 2007 年的 21% 上升到 2015 年的 53%，从主要的染色体异常转变为广泛的单基因疾病，越来越多地通过 WES 作为一级检测进行诊断。 2015 年，染色体异常的平均诊断年龄为 19 天（范围 12-38 天），单基因疾病的平均诊断年龄为 138 天（范围 10-309 天）。结论 我中心采用新的基因技术，提高了基因诊断确诊患者的比例。这项研究提供了重要的基准数据，以衡量随着基因组测试周转时间的减少而进一步改进。
Aim To investigate the diagnostic and service impact of chromosomal microarray and whole exome sequencing (WES) in a neonatal intensive care unit (NICU). Methods This was a retrospective medical record review of NICU patients referred for genetics consultation at three time points over a 9-year period at a single centre to determine referral indications, genetic consultation outcomes and time to diagnosis. Results The number of NICU patients referred for genetics consultation increased from 44 in 2007 to 95 in 2015. The proportion of NICU patients suspected of having a genetic condition following clinical geneticist assessment remained stable, averaging 5.3% of all admissions. The proportion of patients receiving a confirmed diagnosis rose from 21% in 2007 to 53% in 2015, with a shift from primarily chromosomal abnormalities to a broad range of monogenic disorders, increasingly diagnosed by WES as a first-tier test. The average age at diagnosis in 2015 was 19 days (range 12-38 days) for chromosomal abnormalities and 138 days (range 10-309 days) for monogenic conditions. Conclusions The adoption of new genetic technologies at our centre has increased the proportion of patients receiving a confirmed genetic diagnosis. This study provides important benchmark data to measure further improvements as turn-around times for genomic testing decrease.