Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA.
Rady Children's Institute for Genomic Medicine, San Diego, CA 92130, USA.
Am J Hum Genet. 2021 Jul 1;108(7):1231-1238. doi: 10.1016/j.ajhg.2021.05.008. Epub 2021 Jun 4.
Genetic disorders are a leading contributor to mortality in neonatal and pediatric intensive care units (ICUs). Rapid whole-genome sequencing (rWGS)-based rapid precision medicine (RPM) is an intervention that has demonstrated improved clinical outcomes and reduced costs of care. However, the feasibility of broad clinical deployment has not been established. The objective of this study was to implement RPM based on rWGS and evaluate the clinical and economic impact of this implementation as a first line diagnostic test in the California Medicaid (Medi-Cal) program. Project Baby Bear was a payor funded, prospective, real-world quality improvement project in the regional ICUs of five tertiary care children's hospitals. Participation was limited to acutely ill Medi-Cal beneficiaries who were admitted November 2018 to May 2020, were <1 year old and within one week of hospitalization, or had just developed an abnormal response to therapy. The whole cohort received RPM. There were two prespecified primary outcomes-changes in medical care reported by physicians and changes in the cost of care. The majority of infants were from underserved populations. Of 184 infants enrolled, 74 (40%) received a diagnosis by rWGS that explained their admission in a median time of 3 days. In 58 (32%) affected individuals, rWGS led to changes in medical care. Testing and precision medicine cost $1.7 million and led to $2.2-2.9 million cost savings. rWGS-based RPM had clinical utility and reduced net health care expenditures for infants in regional ICUs. rWGS should be considered early in ICU admission when the underlying etiology is unclear.
遗传疾病是新生儿和儿科重症监护病房（ICU）死亡的主要原因。基于全基因组快速测序（rWGS）的快速精准医疗（RPM）是一种干预措施，已证明可改善临床结果并降低护理成本。然而，其广泛临床应用的可行性尚未得到证实。本研究的目的是实施基于 rWGS 的 RPM，并评估作为加利福尼亚州医疗补助（Medi-Cal）计划一线诊断测试的临床和经济影响。“熊宝宝计划”是一项由付款人资助的、前瞻性的、真实世界的质量改进项目，在五家三级儿童医院的区域 ICU 进行。参与仅限于急性 Medi-Cal 受益人的患者，这些患者在 2018 年 11 月至 2020 年 5 月期间入院，年龄<1 岁，且在住院后一周内，或刚出现对治疗的异常反应。整个队列均接受 RPM 治疗。有两个预先指定的主要结局——医生报告的医疗护理变化和护理成本变化。大多数婴儿来自服务不足的人群。在 184 名入组婴儿中，有 74 名（40%）通过 rWGS 检测到了导致其入院的诊断，中位时间为 3 天。在 58 名（32%）受影响的个体中，rWGS 导致了医疗护理的改变。检测和精准医疗的费用为 170 万美元，可节省 220 万至 290 万美元的成本。基于 rWGS 的 RPM 具有临床实用性，并降低了区域 ICU 婴儿的净医疗保健支出。当潜在病因不明确时，应在 ICU 入院时尽早考虑 rWGS。
