Genomic risk in clinic care to promote health equity in New York City patients

临床护理中的基因组风险促进纽约市患者的健康公平

• 批准号: 10850453
• 负责人: NOURA SERENE ABUL-HUSN
• 金额: $ 14.97万
• 依托单位: ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI
• 依托单位国家: 美国
• 财政年份: 2020
• 资助国家: 美国
• 起止时间: 2020-07-01 至 2025-04-30
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10850453
• 关键词: Adult; Caring; Child; Clinic; Clinical; Communities; Data; Disease; Electronic Health Record; Electronic Medical Records and Genomics Network; Enrollment; Ensure; European ancestry; Family; Family health status; Genes; Genetic Risk; Genome; Genomic medicine; Genomics; Goals; Health; Health system; Individual; Measures; Metadata; National Human Genome Research Institute; New York City; Outcome; Participant; Patients; Physicians; Predictive Value; Preventive; Preventive Medicine; Provider; Recording of previous events; Reporting; Research; Research Personnel; Risk; Risk Assessment; Risk Factors; Site; Surveys; Technology; Testing; Underserved Population; United States; Validation; Variant; Visit; Work; clinical implementation; clinical research site; disorder risk; emerging adult; health equity promotion; high risk; instrument; interest; lifestyle factors; medically underserved population; outreach; polygenic risk score; primary care clinic; prospective; public health relevance; recruit; response; risk prediction; social; uptake; working group

PROJECT SUMMARY / ABSTRACT Disease risk prediction that integrates aspects of clinical history, family history, and lifestyle factors is a core tenet of preventive medicine, with genomic risk increasingly being recognized as a component that may enhance the prediction of disease. In addition to strong risk factors in single genes (monogenic risk), polygenic risk scores (PRS) combine the many small effects of variants across the genome to estimate an individual's disease risk. While PRS are poised to enhance risk prediction for common disease, current challenges to clinical implementation include lack of validation in non-European ancestry groups, and barriers to access to leading-edge genomic technology, research, and testing among underserved populations. The eMERGE 4 Network is conducting a study to prospectively enroll 25,000 adults and children across 10 clinical sites in the United States and return an integrated risk report, called the Genome Informed Risk Assessment (GIRA), which incorporates PRS for 10 common conditions with family history, monogenic risk, social and clinical determinants. Using the GIRA to identify individuals at high risk, the Network will assess uptake of preventive health measures and health outcomes. The Mount Sinai Health System (MS) has been selected as an eMERGE 4 enhanced diversity clinical site, where we have recruited 1,520 of our target 2,500 participants, >75% of whom are from medically underserved populations. At the midpoint of the project, in response to some delays in Network recruitment, we have been asked to recruit an additional 175 adult participants beyond our original goal of 2,500. The Specific Aim for this supplement is to expand enrollment of adult participants from diverse communities in New York City. We will accomplish this by 1) continuing targeted outreach, 2) maintaining a presence in primary care clinics across Mount Sinai, 3) engaging physician champions, clinic staff, and practice managers, 4) bringing on additional recruitment sites as needed, 5) extending recruitment through end July 2024, and 6) continuing outreach and engagement efforts to participants and providers. We will extract data on health outcomes from electronic health records, and other data as requested. Upon completion of this aim we will deliver completed surveys, family histories, meta data, and EHR-derived health outcome data for an additional 175 diverse adults from the Mount Sinai Health System to contribute to the research goals of the eMERGE 4 Network, and will work within the eMERGE Network working groups to analyze these data.

项目摘要/摘要疾病风险预测，整合了临床病史、家族史等方面 历史和生活方式因素是预防医学的核心原则，基因组风险越来越大 被认为是可能增强疾病预测的一个组成部分。除了单一的强烈风险因素 基因(单基因风险)、多基因风险分数(PR)结合了多种变异的微小影响 基因组来评估一个人的疾病风险。虽然PR准备增强对常见疾病的风险预测 疾病，目前临床实施的挑战包括缺乏非欧洲血统的验证 群体，以及在服务不足的人群中获得尖端基因组技术、研究和测试的障碍 人口。Emerge 4 Network正在进行一项研究，预期将招收25,000名成年人和儿童 在美国的10个临床地点，并返回一份名为基因组知情的综合风险报告 风险评估(GIRA)，包括10种常见疾病的PR，有家族史、单基因风险、 社会和临床决定因素。利用GIRA来识别高危人群，该网络将评估吸毒率 关于预防性卫生措施和卫生结果的信息。已选择西奈山医疗系统(MS) 作为Emerge 4增强的多样性临床站点，我们已经招募了1,520名目标2,500名参与者， &gt；其中75%来自医疗服务不足的人群。在项目的中点，为了回应一些 网络招聘延迟，我们被要求在我们的基础上再招募175名成年参与者 最初的目标是2500人。本附录的具体目的是扩大成人参与者的招生范围 纽约市的不同社区。我们将通过1)继续有针对性的外展，2)保持 出现在西奈山的初级保健诊所，3)吸引医生冠军、诊所工作人员和执业医生 管理人员，4)根据需要增加招聘地点，5)将招聘延长至2024年7月底， 以及6)继续与参与者和提供者进行外联和接触努力。我们将提取有关健康的数据 电子健康记录的结果，以及所要求的其他数据。在完成这一目标后，我们将 提供完整的调查、家族病史、元数据和EHR派生的健康结果数据 来自西奈山卫生系统的175名不同的成年人为Emerge 4的研究目标做出贡献 并将在Emerge Network工作组内工作，以分析这些数据。

项目成果

CDH1 pathogenic variants and cancer risk in an unselected patient population.

• DOI: 10.1007/s10689-021-00257-x
• 发表时间: 2022-04
• 期刊: Familial cancer
• 影响因子: 2.2
• 作者: Bar-Mashiah A;Soper ER;Cullina S;Belbin GM;Kenny EE;Lucas AL;Abul-Husn NS
• 通讯作者: Abul-Husn NS

Lynch Syndrome-Associated Variants and Cancer Rates in an Ancestrally Diverse Biobank.

• DOI: 10.1200/po.20.00290
• 发表时间: 2020-01-01
• 期刊: JCO precision oncology
• 影响因子: 4.6
• 作者: Rosenblum, Rachel E;Ang, Celina;Abul-Husn, Noura S
• 通讯作者: Abul-Husn, Noura S

Perspectives of diverse Spanish- and English-speaking patients on the clinical use of polygenic risk scores.

• DOI: 10.1016/j.gim.2022.03.006
• 发表时间: 2022-06
• 期刊: GENETICS IN MEDICINE
• 影响因子: 8.8
• 作者: Suckiel, Sabrina A.;Braganza, Giovanna T.;Aguiniga, Karla Lopez;Odgis, Jacqueline A.;Bonini, Katherine E.;Kenny, Eimear E.;Hamilton, Jada G.;Abul-Husn, Noura S.
• 通讯作者: Abul-Husn, Noura S.