Kumar Runjun D, Saba Lisa F, Streff Haley, Shaw Chad A, Mizerik Elizabeth, Snyder Matthew T, Lopez-Terrada Dolores, Scull Jennifer
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX.
Department of Pathology, Texas Children's Hospital, Houston, TX.
Genet Med. 2023 Oct;25(10):100916. doi: 10.1016/j.gim.2023.100916. Epub 2023 Jun 16.
Genome sequencing (GS) may shorten the diagnostic odyssey for patients, but clinical experience with this assay in nonresearch settings remains limited. Texas Children's Hospital began offering GS as a clinical test to admitted patients in 2020, providing an opportunity to study GS utilization, possibilities for test optimization, and testing outcomes.
We retrospectively reviewed GS orders for admitted patients for a nearly 3-year period from March 2020 through December 2022. We gathered anonymized clinical data from the electronic health record to answer the study questions.
The diagnostic yield over 97 admitted patients was 35%. The majority of GS clinical indications were neurologic or metabolic (61%) and most patients were in intensive care (58%). Tests were often characterized as candidates for intervention/improvement (56%), frequently because of redundancy with prior testing. Patients receiving GS without prior exome sequencing (ES) had higher diagnostic rates (45%) than the cohort as a whole. In 2 cases, GS revealed a molecular diagnosis that is unlikely to be detected by ES.
The performance of GS in clinical settings likely justifies its use as a first-line diagnostic test, but the incremental benefit for patients with prior ES may be limited.
基因组测序（GS）可能会缩短患者的诊断历程，但在非研究环境中使用该检测方法的临床经验仍然有限。德克萨斯儿童医院于2020年开始为住院患者提供GS作为一项临床检测，这为研究GS的使用情况、检测优化的可能性以及检测结果提供了机会。
我们回顾性分析了2020年3月至2022年12月近3年期间住院患者的GS检测订单。我们从电子健康记录中收集了匿名临床数据以回答研究问题。
97例住院患者的诊断率为35%。GS的大多数临床指征为神经或代谢方面（61%），且大多数患者处于重症监护中（58%）。检测通常被视为干预/改善的候选对象（56%），这通常是因为与之前的检测存在冗余。未进行过外显子组测序（ES）而接受GS检测的患者诊断率（45%）高于整个队列。在2例病例中，GS揭示了一种ES不太可能检测到的分子诊断。
GS在临床环境中的表现可能证明其作为一线诊断检测方法的合理性，但对于之前进行过ES检测的患者，其额外益处可能有限。
