VIGOR: Virtual Genome Center for Infant Health

VIGOR：婴儿健康虚拟基因组中心

• 批准号: 10494149
• 负责人: PANKAJ B AGRAWAL
• 金额: $ 107.31万
• 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/10494149
• 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; ethnic minority population; exome sequencing; experience; family support; genetic testing; health care disparity; health equity; implementation evaluation; 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.

项目摘要 基因组医学在过去十年中迅速发展，使早期诊断和个性化治疗成为可能。 治疗然而，美国只有少数高度专业化的中心有资源可以利用， 这些病人护理的进步这造成了巨大的健康公平差距， 社区环境，通常是低收入和/或代表种族/族裔少数群体， 医疗等更广泛地利用基因组药物的另一个障碍是基因组药物的传播不良。 临床医生的知识，特别是在社区环境中。在执行《公约》方面存在着巨大差距， 基因组医学从诊断到个性化治疗，这一领域经历了巨大的进步，但仍然 但在获得服务方面差距很大。我们的建议旨在开发和测试一个 与RFA-HG-20-036一致的打破基因组医学这些障碍的战略。我们的目标 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），建立在我们的基础上， 作为NIH资助的Babyseq研究（U19 HD 077671）的研究者，过去和正在进行的研究，未诊断 疾病网络（U 01 HG 007690）和孟德尔基因组学中心（UM 1HG 008900）。VIGOR将是一个 该中心可以远程支持在社区NICU工作的临床医生和家庭。在AIM 1中，我们将 建立VIGOR中心，并在2015年内招募和随访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 排序并创建和返回及时，全面的解释性报告给家庭和医生，这些报告： (1)中继诊断结果，（2）建议临床行动，（3）为阴性患者提供数据再分析 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 评估执行成果。在神经科医生和NICU内，我们将检查1） 适当性; 2）可行性; 3）普及率; 4）公平性（按种族/民族、保险状况和主要 语言）和5）VIGOR使用的满意度;在家庭中，我们将检查1）满意度; 2）不良 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社区临床环境中实施虚拟基因组中心的评价 资源，从而为如何最好地大规模实施基因组医学提供了可推广的见解， 对于其他年龄组。我们的干预措施具有很大的潜力，可以解决基因组医学中的差异， 低收入和URM人口，并将提高提供者和卫生系统的能力， 专门的基因组技术。