Incorporating genomics into the clinical care of diverse NYC children

项目摘要 我们提出了一个新的CSER站点NYCKidSeq，以促进儿童基因组药物的实施 来自哈莱姆区和布朗克斯区未被充分代表的少数民族人口。我们将应对三个关键挑战 与为低收入和多样化人群实施基因组学有关；多样性，交流 和社区参与。纽约市，特别是哈莱姆区和布朗克斯区，拥有最多样化的人口 美国，然而来自这些社区的儿童背负着不成比例的疾病负担和缺乏 获得优质医疗服务的机会，以及在受益于研究和技术进步方面的滞后。因此，我们将 进行全基因组测序(WGS)用于诊断1200名来自祖先和 不同的社会经济背景，有未确诊的神经学、心脏或免疫疾病。我们 将评估WGS的个人临床效用及其对医疗成本的影响，并比较其 对目标基因面板和染色体微阵列的诊断准确性。考虑到基因组的复杂性 口译、开放、目标广泛和全面的沟通是必不可少的。为了解决这个问题，我们 将首先评估参与者对基因组测试和决策的理解和态度，并将 然后将这些发现整合到一套软件资源的开发中，以促进基于Web的 探索基因检测结果，加强对基因组医学的教育和咨询，以及 与所有专业水平的护理人员进行沟通。认识到沟通不畅和与 理解和翻译基因组测序这门新的“语言”是 为了实施，我们将在三个社区参与层面上解决这个问题：初级保健提供者， 社区和参与的家长，以创造对话，促进理解和 透明度。这是西奈山卫生系统、阿尔伯特·爱因斯坦学院 医学/蒙特菲奥里医学中心和纽约基因组中心呈现了独特的“真实生活” 在解决医疗保健领域实施挑战的同时，相互增强优势的机会 系统。总体而言，这项工作将向全球基因组学和临床社区通报如何实施 在临床上有用的、精通技术的、文化敏感的和 合乎道德规范的举止。

Project Summary We propose a new CSER site, NYCKidSeq, to advance the implementation of genomic medicine in children from underrepresented minority populations in Harlem and the Bronx. We will address three key challenges associated with implementing genomics for low income and diverse populations; diversity, communication and community engagement. NYC, particularly Harlem and the Bronx, has the most diverse population in the United States, yet children from these communities bear a disproportionate burden of illness and lack of access to quality care, and lag in benefitting from advances in research and technology. We will therefore perform whole genome sequencing (WGS) for diagnostic purposes in 1200 children from ancestrally and socioeconomically diverse backgrounds who have undiagnosed neurologic, cardiac, or immune disorders. We will evaluate the individual clinical utility of WGS and the impact on healthcare costs, and compare its diagnostic accuracy to targeted gene panels and chromosomal microarray. Given the complexity of genomic interpretation, open, broadly targeted, and comprehensive communication is essential. To address this, we will first evaluate participants' understanding and attitudes about genomic testing and decision-making, and will then incorporate these findings into the development of a suite of software resources to facilitate web-based exploration of the results of genetic testing, enhance education and counseling about genomic medicine, and communication to carers at all levels of expertise. Recognizing that poor communication and issues with understanding and translating the new “language” of genomic sequencing are major barriers to implementation, we will address this at three levels of community engagement: primary care providers, communities, and participating parents in order to create dialogue and facilitate understanding and transparency. This powerful collaboration between the Mount Sinai Health System, Albert Einstein College of Medicine/Montefiore Medical Center, and the New York Genome Center presents a unique “real life” opportunity to mutually build upon strengths while addressing implementation challenges across health care systems. Overall, this work will inform the global genomics and clinical communities about how to implement genomic medicine in a diverse population in a clinically useful, technologically savvy, culturally sensitive, and ethically sound manner.