Center for Pediatric Genomic Medicine Children's Mercy-Kansas City, Kansas City, Missouri, 64108, USA.
School of Medicine, University of Missouri-Kansas City, Kansas City, Missouri, 64108, USA.
Genet Med. 2019 Feb;21(2):303-310. doi: 10.1038/s41436-018-0075-8. Epub 2018 Jul 16.
We report for the first time, the use of clinical genome sequencing (GS) in an unbiased pediatric cohort. We describe the clinical validation, patient metrics, ordering patterns, results, reimbursement, and physician retrieval of results for the first consecutive 80 cases.
Clinical GS was performed for both inpatients and outpatients undergoing etiologic evaluations. Results were reported in the electronic medical record. Evidence of report retrieval by clinicians and whether interpretation was concordant with laboratory report was obtained through retrospective chart review.
Twenty definitive diagnoses were made in 19 patients (24%; n = 80). Except for two partial gene deletions, all diagnostic variants would have been detectable by our exome methods. Surprisingly, there was no documentation of communication of results to the family in the medical record for 17.5% of patients, and in 7.5%, physician and laboratory interpretations were discordant. Average insurance reimbursement was 30.2%, with yield for commercial payers significantly higher, at 54.1%.
The detection rate of GS is equivalent and potentially superior to exome sequencing (ES). Reimbursement rates were variable but overall satisfactory for commercial insurers, and poor for government entities. In addition, we identify opportunities for improvement in the communication of results to families, likely translatable to other tests and other institutions.
我们首次报告了在无偏倚儿科队列中使用临床基因组测序（GS）。我们描述了前 80 例连续病例的临床验证、患者指标、订购模式、结果、报销和医生检索结果的情况。
对接受病因评估的住院患者和门诊患者进行临床 GS。结果在电子病历中报告。通过回顾性病历审查，获得了临床医生检索报告的证据，以及是否与实验室报告的解释一致。
在 19 名患者（24%；n=80）中确诊了 20 种明确诊断。除了两个部分基因缺失外，所有诊断性变异都可以通过我们的外显子组方法检测到。令人惊讶的是，有 17.5%的患者的病历中没有记录结果与家属的沟通情况，而在 7.5%的患者中，医生和实验室的解释不一致。平均保险报销率为 30.2%，商业支付者的收益明显更高，为 54.1%。
GS 的检测率与外显子组测序（ES）相当，且可能更高。报销率各不相同，但对商业保险公司来说总体上是令人满意的，而对政府实体来说则较差。此外，我们发现了改进向家属传达结果的机会，这可能适用于其他测试和其他机构。
