VIGOR: Virtual Genome Center for Infant Health

项目总结 在过去的十年里，基因组医学迅速发展，使得早期诊断和个性化成为可能 治疗。然而，在美国，只有少数几个高度专业化的中心有资源可以利用 这些在病人护理方面的进步。这造成了巨大的健康公平差距，患者在典型的 社区环境，通常是低收入和/或代表种族/族裔少数群体，得不到公平的待遇 医疗护理。基因药物更广泛应用的另一个障碍是基因药物传播不力。 临床医生的知识，特别是在社区环境中。在实施……方面存在很大差距 基因组医学从诊断到个性化治疗，这个领域正在经历巨大的进步，但仍然 在可获得性方面存在很大差距。我们的建议旨在开发和测试 打破基因组医学这些障碍的战略，与RFA-HG-20-036一致。我们的目标 人口是患病的新生儿。我们提出了一个新的中心，虚拟基因组中心(Vigor)，建立在我们的 作为NIH资助的BabySeq研究(U19HD077671)的调查人员进行的过去和正在进行的研究，未诊断 疾病网络(U01HG007690)和孟德尔基因组学中心(UM1HG008900)。活力将是一种 可以远程支持在社区NICU工作的临床医生和家庭的中心。在目标1中，我们将 建立活力中心，登记并跟踪250名符合条件的新生儿及其家属6个月内 东北部的4个社区NICU，服务于不同的人群。在AIM 2中，我们将促进Exome 测序，并创建并及时向家庭和医生返回全面的解释性报告： (1)传递诊断结果，(2)建议临床行动，(3)为阴性者提供数据重新分析 或不确定的发现；以及(4)提供更多的研究机会。在AIM 3中，我们将全面 评估执行成果。在新生儿专家和NICU中，我们将检查1) 适当性；2)可行性；3)渗透性；4)公平性(按种族/民族、保险状况和主要情况) 语言)和5)活力使用的满意度；在家庭中，我们将检查1)满意度；2)不利 精神健康(压力和抑郁)和3)新生儿临床结局。这项研究将提供严格的 在没有高度专业化的情况下在社区临床环境中实施虚拟基因组中心的评估 资源，从而提供关于如何最好地大规模和 对于其他年龄段的人来说。我们的干预措施有很大的潜力来解决基因组医学在 低收入和URM人群，并将加强提供者和卫生系统的能力，以高度利用 专门的基因组技术在他们的社区。

PROJECT SUMMARY Genomic medicine has rapidly advanced in the past decade enabling earlier diagnosis and personalized treatment. However, only a few highly specialized centers in the US have the resources to take advantage of these advances in patient care. This has created a large health equity gap whereby patients cared for in typical community settings, often low-income and/or representing racial/ethnic minorities, do not receive equitable medical care. Another barrier to the wider utilization of genomic medicine is the poor dissemination of knowledge among clinicians, especially in community settings. A wide gap exists in the implementation of genomic medicine from diagnosis to personalized therapies, a field experiencing huge advances but still subject to wide disparities in accessibility. Our proposal aims to develop and test the implementation of a strategy to break down these barriers to genomic medicine, aligned with RFA-HG-20-036. Our target population is sick newborns. We propose a novel center, VIrtual GenOme CenteR (VIGOR), building upon our past and ongoing research as investigators for the NIH-funded Babyseq study (U19HD077671), Undiagnosed Disease Network (U01HG007690), and Center for Mendelian Genomics (UM1HG008900). VIGOR will be a center that can remotely support clinicians and families working in community NICUs. In AIM 1, we will establish the VIGOR center, and enroll and follow 250 eligible newborns and their families for 6 months within 4 community NICUs in the Northeast that serve diverse populations. In AIM 2, we will facilitate exome sequencing and create and return timely, comprehensive interpretive reports to families and physicians that: (1) relay diagnostic findings, (2) recommend clinical actions, (3) offer reanalysis of data for those with negative or inconclusive findings; and (4) provide additional research opportunities. In AIM 3, we will comprehensively assess implementation outcomes. Among neonatologists and within NICUs, we will examine 1) Appropriateness; 2) Feasibility; 3) Penetration; and 4) Equity (by race/ethnicity, insurance status, and primary language) and 5) Satisfaction of VIGOR use; among families, we will examine 1) Satisfaction; 2) Adverse mental health (stress and depression) and 3) Newborn clinical outcomes. This study will provide rigorous evaluation of implementing a virtual genome center into community clinical settings without highly specialized resources, thereby offering generalizable insights as to how best to implement genomic medicine at scale and for other age groups. Our intervention has great potential to address disparities in genomic medicine among low-income and URM populations and will enhance capacity for providers and health systems to utilize highly specialized genomic techniques in their communities.