VIGOR: Virtual Genome Center for Infant Health

VIGOR：婴儿健康虚拟基因组中心

• 批准号: 10368236
• 负责人: PANKAJ B AGRAWAL
• 金额: $ 109.79万
• 依托单位: BOSTON CHILDREN'S HOSPITAL
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-09-24 至 2026-06-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10368236
• 关键词: Address; All of Us Research Program; Caring; Clinical; Communication; Communities; Complex; Consultations; Data; Diagnosis; Diagnostic; Disease; Early Diagnosis; Education; Enrollment; Ethnic Origin; Evaluation; Face; Family; Family Physicians; Funding; Genetic; Genetic Diseases; Genome; Genomic medicine; Genomics; Goals; Health system; Hospitals; Immunologic Deficiency Syndromes; Individual; Infant Health; Infrastructure; Institutionalization; Insurance Coverage; Intervention; Knowledge; Language; Logistics; Low income; Medical; Medicine; Mental Depression; Mental Health; Metabolic Diseases; Minority Groups; Modeling; Muscle hypotonia; Neonatal Intensive Care Units; Newborn Infant; Outcome; Patient Care; Patients; Penetration; Physicians; Population Heterogeneity; Provider; Race; Reporting; Research; Research Personnel; Resources; Seizures; Signs and Symptoms; Specialized Center; Stress; Target Populations; Techniques; Testing; Therapeutic; Time; Transportation; Underrepresented Minority; United States National Institutes of Health; Work; age group; biomedical referral center; care seeking; clinically actionable; community center; community setting; congenital anomaly; data access; disadvantaged population; ethnic minority population; exome sequencing; experience; family support; genetic testing; health care disparity; health equity; implementation outcomes; improved; innovation; insight; novel; personalized medicine; racial and ethnic; response; satisfaction; social disadvantage; social disparities; virtual

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.

项目概要 基因组医学在过去十年中迅速发展，能够实现早期诊断和个性化治疗 治疗。然而，美国只有少数高度专业化的中心拥有资源来利用 这些患者护理方面的进步。这造成了巨大的健康公平差距，患者以典型的方式接受护理 社区环境，通常是低收入和/或代表种族/族裔少数群体，没有获得公平的 医疗保健。基因组医学更广泛应用的另一个障碍是基因组医学传播不力 临床医生的知识，特别是在社区环境中。落实方面存在较大差距 基因组医学从诊断到个性化治疗，这个领域经历了巨大的进步，但仍然 在可及性方面存在巨大差异。我们的建议旨在开发和测试实施 打破基因组医学障碍的战略，与 RFA-HG-20-036 一致。我们的目标 人口是患病的新生儿。我们提议建立一个新颖的中心，虚拟基因组中心（VIGOR），以我们的 作为 NIH 资助的 Babyseq 研究 (U19HD077671) 的调查员，过去和正在进行的研究，未确诊 疾病网络 (U01HG007690) 和孟德尔基因组学中心 (UM1HG008900)。活力将是 该中心可以远程支持在社区新生儿重症监护室工作的临床医生和家庭。在 AIM 1 中，我们将 建立VIGOR中心，并在年内登记并跟踪250名符合条件的新生儿及其家人6个月 东北部有 4 个社区 NICU，为不同人群提供服务。在 AIM 2 中，我们将促进外显子组 排序并创建并向家庭和医生及时返回全面的解释报告： (1) 传达诊断结果，(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； (4) 提供额外的研究机会。在AIM 3中，我们将全面 评估实施结果。在新生儿科医生和 NICU 内，我们将检查 1) 适当性； 2）可行性； 3）渗透； 4) 公平（按种族/民族、保险状况和主要 语言）和 5）VIGOR 使用满意度；在家庭中，我们将检查1）满意度； 2) 不利 心理健康（压力和抑郁）和 3) 新生儿临床结果。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实施基因组医学的普遍见解 对于其他年龄段的人。我们的干预措施具有巨大的潜力来解决基因组医学方面的差异 低收入和 URM 人群，并将增强提供者和卫生系统利用高 他们社区的专门基因组技术。