Incorporating genomics into the clinical care of diverse NYC children

将基因组学纳入纽约市不同儿童的临床护理中

• 批准号: 10361994
• 负责人: BRUCE D GELB
• 金额: $ 201.66万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-03-15 至 2023-05-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10361994
• 关键词: Address; Area; Attitude; Behavior; Biological; Categories; Child; Childhood; Clinical; Clinical Research; Collaborations; Communication; Communities; Computer software; Counseling; Data; Databases; Decision Making; Development; Diagnostic; Disease; Economics; Ecosystem; Education; Electronic Health Record; Enrollment; Ethics; Evaluation; Face; Family; Fostering; Genes; Genetic; Genetic Counseling; Genetic Variation; Genome; Genomic medicine; Genomics; Grant; Health Care Costs; Health Personnel; Health system; Healthcare Systems; Heart Diseases; Immune System Diseases; Incidental Findings; Individual; Laboratories; Language; Life; Link; Low income; Measures; Medical; Medical Genetics; Medical center; Medicine; Minority Groups; New York; New York City; Online Systems; Outcome; Outcome Measure; Parents; Participant; Pathway interactions; Patients; Persons; Policy Making; Population Heterogeneity; Process; Provider; Quality of Care; Reporting; Research; Research Personnel; Resources; Sampling; Site; Surveys; Technology; Telemedicine; Test Result; Testing; Translating; Underrepresented Minority; Underrepresented Populations; Underserved Population; United States; Ursidae Family; Visualization software; Work; ancestry analysis; base; burden of illness; care providers; clinical care; clinical diagnostics; cloud based; cohort; college; community engagement; coronavirus disease; cost; cost effectiveness; diagnostic accuracy; digital; disadvantaged population; effectiveness evaluation; ethical legal social implication; follow-up; genetic testing; genome sequencing; genomic data; implementation barriers; improved; member; nervous system disorder; non-genetic; novel; parent grant; population based; programs; recruit; research clinical testing; response; satisfaction; screening; socioeconomics; sound; success; support tools; telehealth; web-based tool; whole genome; working group

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.

项目概要 我们提议建立一个新的 CSER 网站 NYCKidSeq，以推动基因组医学在儿童中的实施 我们将解决三个关键挑战。 与针对低收入和多样化人群实施基因组学相关； 纽约市，尤其是哈莱姆区和布朗克斯区，拥有全美最多元化的人口。 但这些社区的儿童承受着不成比例的疾病负担和缺乏教育 因此，我们将无法获得优质护理，而无法从研究和技术的进步中受益。 对 1200 名来自祖先和 具有不同社会经济背景且患有未确诊的神经、心脏或免疫疾病的人。 将评估 WGS 的个体临床效用以及对医疗保健成本的影响，并比较其 鉴于基因组的复杂性，目标基因组和染色体微阵列的诊断准确性。 为了解决这个问题，我们必须进行解释、开放、有广泛针对性和全面的沟通。 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 然后将这些发现纳入一套软件资源的开发中，以促进基于网络的 探索基因检测结果，加强基因组医学教育和咨询， 认识到与各个专业水平的护理人员的沟通不畅和问题。 理解和翻译基因组测序的新“语言”是实现这一目标的主要障碍 实施过程中，我们将在社区参与的三个层面解决这个问题：初级保健提供者、 社区和参与的家长，以建立对话并促进理解和 西奈山卫生系统与阿尔伯特·爱因斯坦学院之间的强大合作。 医学/蒙蒂菲奥里医学中心和纽约基因组中心呈现独特的“现实生活” 相互增强优势的机会，同时解决医疗保健领域的实施挑战 总体而言，这项工作将为全球基因组学和临床界提供如何实施的信息。 基因组医学在不同人群中的临床有用、技术精湛、文化敏感和 道德上健全的方式。

项目成果

The NYCKidSeq randomized controlled trial: Impact of GUÍA digitally enhanced genetic counseling in racially and ethnically diverse families.

NYCKidSeq 随机对照试验：GUàA 数字增强遗传咨询对种族和民族多样化家庭的影响。

• 发表时间: 2023-07-07
• 作者: Suckiel, Sabrina A;Kelly, Nicole R;Odgis, Jacqueline A;Gallagher, Katie M;Sebastin, Monisha;Bonini, Katherine E;Marathe, Priya N;Brown, Kaitlyn;Di Biase, Miranda;Ramos, Michelle A;Rodriguez, Jessica E;Scarimbolo, Laura;Insel, Beverly J;Ferar
• 通讯作者: Ferar

Molecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

在不同种族和民族的儿科患者中，基因组测序与靶向基因组测试的分子诊断率。

• 发表时间: 2023-03-20
• 作者: Abul;Marathe, Priya N;Kelly, Nicole R;Bonini, Katherine E;Sebastin, Monisha;Odgis, Jacqueline A;Abhyankar, Avinash;Brown, Kaitlyn;Di Biase, Miranda;Gallagher, Katie M;Guha, Saurav;Ioele, Nicolette;Okur, Volkan;Ramos, Michelle A
• 通讯作者: Ramos, Michelle A

Views Of Primary Care Providers On Testing Patients For Genetic Risks For Common Chronic Diseases.

初级保健提供者对检测患者常见慢性病遗传风险的看法。

• 发表时间: 2018-05
• 作者: Hauser, Diane;Obeng, Aniwaa Owusu;Fei, Kezhen;Ramos, Michelle A;Horowitz, Carol R
• 通讯作者: Horowitz, Carol R

Detection of mosaic variants using genome sequencing in a large pediatric cohort.

在大型儿科队列中使用基因组测序检测嵌合体变异。

• 发表时间: 2023-03
• 作者: Odgis, Jacqueline A;Gallagher, Katie M;Rehman, Atteeq U;Marathe, Priya N;Bonini, Katherine E;Sebastin, Monisha;Di Biase, Miranda;Brown, Kaitlyn;Kelly, Nicole R;Ramos, Michelle A;Thomas;Guha, Saurav;Okur, Volkan;Ganapathi, Mythi
• 通讯作者: Ganapathi, Mythi

The Genomic Medicine Integrative Research Framework: A Conceptual Framework for Conducting Genomic Medicine Research.

基因组医学综合研究框架：进行基因组医学研究的概念框架。

• 发表时间: 2019-06-06
• 影响因子: 9.8
• 作者: Horowitz, Carol R;Orlando, Lori A;Slavotinek, Anne M;Peterson, Josh;Angelo, Frank;Biesecker, Barbara;Bonham, Vence L;Cameron, Linda D;Fullerton, Stephanie M;Gelb, Bruce D;Goddard, Katrina A B;Hailu, Benyam;Hart, Ragan;Hindorff, Lucia A;Jarvi
• 通讯作者: Jarvi