Lavelle Tara A, Maron Jill L, Kingsmore Stephen F, Lin Ching-Hsuan, Zhu Yingying, Sweigart Benjamin, Reed Dallas, Gelb Bruce D, Vockley Jerry, Davis Jonathan M
Center for the Evaluation of Risk in Health, Institute for Clinical Research and Health Policy Studies, Tufts Medical Center, 800 Washington St., #063, Boston, Massachusetts, 02111, USA.
Department of Medicine, Tufts University School of Medicine, Boston, MA.
medRxiv. 2025 Apr 10:2024.10.18.24315740. doi: 10.1101/2024.10.18.24315740.
Rapid genome sequencing (rGS) provides high diagnostic yield for critically ill infants with suspected genetic disorders, but has high upfront costs and insufficient insurance coverage. Assessing the downstream costs and health outcomes associated with rGS is important for guiding coverage decisions. This study compares 1-year healthcare costs and quality-adjusted life years (QALYs) for: 1) early rGS (within 7 days of admission) for all infants, and 2) early targeted neonatal gene sequencing (NewbornDx) for all infants, followed by later rGS (after 7 days) for undiagnosed infants.
The Genomic Medicine for Ill Neonates and Infants (GEMINI) study was a multicenter, prospective study that enrolled 400 hospitalized infants under one year of age with suspected genetic disorders. All participants underwent both rGS and NewbornDx. Using GEMINI data and 2023 Medicare rates, we developed a decision tree to compare total costs and QALYs over a 1-year period for the two testing strategies.
The diagnostic yield and upfront testing costs were higher for rGS (49%; $12,297) than NewbornDx (27%; $2,449; p<0.05). As neither early testing nor diagnosis significantly affected QALYs, we conducted a cost-minimization analysis, focusing solely on cost differences between strategies. Over one year, early rGS was estimated to save $158,592 per patient (95% CI: $63,701-$253,292) compared to early NewbornDx with later rGS if necessary.
Early rGS results in substantial healthcare cost savings, highlighting the need to expand reimbursement to improve access early in a hospitalization for critically ill infants.
快速基因组测序（rGS）可为疑似患有遗传疾病的危重症婴儿提供较高的诊断率，但前期成本高昂且保险覆盖不足。评估与rGS相关的下游成本和健康结局对于指导保险覆盖决策很重要。本研究比较了以下两种情况的1年医疗成本和质量调整生命年（QALY）：1）所有婴儿的早期rGS（入院后7天内），以及2）所有婴儿的早期靶向新生儿基因测序（NewbornDx），随后对未确诊婴儿进行后期rGS（7天后）。
新生儿和婴儿基因组医学（GEMINI）研究是一项多中心前瞻性研究，纳入了400名1岁以下疑似患有遗传疾病的住院婴儿。所有参与者均接受了rGS和NewbornDx检测。利用GEMINI研究数据和2023年医疗保险费率，我们构建了一个决策树，以比较两种检测策略在1年期间的总成本和QALY。
rGS的诊断率（49%）和前期检测成本（12,297美元）高于NewbornDx（27%；2,449美元；p<0.05）。由于早期检测和诊断均未显著影响QALY，我们进行了成本最小化分析，仅关注策略之间的成本差异。与必要时进行后期rGS的早期NewbornDx相比，估计早期rGS每位患者每年可节省158,592美元（95%CI：63,701美元 - 253,292美元）。
早期rGS可大幅节省医疗成本，这凸显了扩大报销范围以改善危重症婴儿住院早期可及性的必要性。
