Incorporating genomics into the clinical care of diverse NYC children

项目摘要 我们提出了一个新的CSER网站，NYCKidSeq，以促进儿童基因组医学的实施 来自哈莱姆和布朗克斯代表性不足的少数民族。我们将应对三大挑战 与低收入和多样化人群实施基因组学相关;多样性，沟通 和社区参与。纽约市，特别是哈莱姆和布朗克斯，拥有世界上最多样化的人口。 然而，来自这些社区的儿童承担着不成比例的疾病负担， 获得高质量的医疗服务，以及在从研究和技术进步中受益方面的滞后。因此我们将 对1200名儿童进行全基因组测序（WGS）， 具有不同社会经济背景的未确诊神经系统、心脏或免疫系统疾病的患者。我们 将评估WGS的个体临床效用和对医疗费用的影响，并比较其 对靶基因板和染色体微阵列的诊断准确性。鉴于基因组的复杂性， 解释，开放，广泛的针对性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检测和决策的理解和态度，并将 然后将这些发现纳入一套软件资源的开发，以促进基于网络的 探索基因检测的结果，加强有关基因组医学的教育和咨询， 与各级专业人员的沟通。认识到沟通不畅和与 理解和翻译基因组测序的新“语言”是 在实施过程中，我们将在三个层面上解决这个问题：初级保健提供者， 社区和参与的父母，以建立对话和促进理解， 透明度西奈山卫生系统、阿尔伯特·爱因斯坦学院 Medicine/Montefiore医学中心，而纽约基因组中心则呈现出独特的“真实的生活” 在解决整个医疗保健领域的实施挑战的同时， 系统.总的来说，这项工作将告知全球基因组学和临床社区如何实施 基因组医学在临床上有用的，技术娴熟的，文化敏感的， 合乎道德的方式。

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.