Utilizing Polygenic Risk to Understand and Improve Outcomes: A Model For Overturning Health Disparities Through Minority-Enriched Genomics Healthcare

摘要 该计划的重点是对750名参与者进行多基因风险评分(PR)的验证和实施 费城儿童医院。在家长Emerge计划下，CHOP建立了一个高效的 登记、接洽和保留协议，包括定向招聘、增强沟通 与参与者和医疗保健专业人员合作，促进分析和EMR集成，并 侧重于AAS的教育方案，以实现长期成功和改善健康结果。这个 该计划已经将风险报告返回给EMR，探索相关的伦理、法律和社会影响 (ELSI)，并调查结果返回后的一系列重要结果。Chop正在目标上与所有人会面 它的主要里程碑，必要的方案基础设施充分运作。建立在这些基础上 为了取得成功，我们提出了一系列的子项目，以补充现有的科学议程。 1.招募和聘用750名额外的参与者(&gt；75%的少数族裔/服务不足)：到目前为止，847名参与者中有74% 被招募参加CHAP的人来自少数群体/服务不足的人群，主要是AAA。我们的目标是扩大 该计划涉及更多的诊所，所有这些诊所都将在现有的基础设施下进行管理。我们会 向所有750名额外参与者返回基因组风险估计，并评估关键医疗保健结果 并收集相关数据，评估患者和提供者的结果。 2.检查基因组风险估计回报的伦理、法律和社会影响(ELSI)：定性 访谈将探索收到风险报告时的反应，该报告包含了两个人之间的多基因风险评分 儿科参与者和18岁以上参与者的父母。主要结果将是 识别与1)自尊和身体形象的感知有关的主题；2)污名；3)行为 与疾病风险管理建议相对应的变化和障碍。 3.评估儿科初级保健提供者(PCP)与儿科家长之间的行动和互动 接受高危GIRA的患者：通过对初级保健医生的半结构化访谈，我们将有权 评估Gira Return和CDS在临床实践中支持提供商的有效性，包括 与父母/照顾者沟通。这将提供基于EMR的影响的详细分析 在儿科背景下对患者和提供者进行干预，补充现有的全网络努力 利用新颖的定性数据获取量化结果。

ABSTRACT This program is focused on validating and implementing polygenic risk scores (PRS) to 750 participants at the Children’s Hospital of Philadelphia. Under the parent eMERGE program, CHOP established an efficient enrollment, engagement, and retention protocol that includes targeted recruitment, enhanced communication with participants and healthcare professionals, boosted analysis and EMR integration, and a dynamic education program focusing on AAs in order to achieve long-term success and improved health outcomes. The program is already returning risk reports to the EMR, exploring relevant ethical, legal, and social implications (ELSI), and investigating a range of important outcomes post-return-of-results. CHOP is on target to meet all its major milestones, with the requisite programmatic infrastructure fully operational. Building on these successes, we propose a range of sub-projects to supplement the existing scientific agenda. 1. Recruit and engage 750 additional participants (>75% minority/underserved): To date, 74% of the 847 participants recruited to CHOP are from minority/underserved populations, primarily AAs. We aim to expand the program across additional clinics, all of which would be managed under the existing infrastructure. We will return genomic risk estimates to all 750 additional participants and assess healthcare outcomes across key disease areas and collect relevant data and assess outcomes for both patients and providers. 2. Examine ethical, legal, and social implications (ELSI) of return of genomic risk estimates: Qualitative interviews will explore reactions to receiving a risk report incorporating polygenic risk scores among both parents of pediatric participants and participants over 18 years of age. Primary outcomes will be the identification of themes related to the perception of 1) self-esteem and body image; 2) stigma; and 3) behavior change, and barriers, corresponding to recommendations for the management of disease risk. 3. Assess actions and interactions between pediatric primary care providers (PCP) and parents of pediatric patients who received a high-risk GIRA: Through semi-structured interviews of PCPs, we will be empowered to assess the effectiveness of the GIRA return and CDS in supporting the provider in clinical practice including communication with parents/caregivers. This will provide a detailed analysis of the impact of EMR-based interventions on patients and providers in the pediatric context, supplementing existing Network-wide efforts to capture quantitative outcomes with novel qualitative data.