Examining the Equitable Integration of Genomics in Health Care and Society

检验基因组学在医疗保健和社会中的公平整合

• 批准号: 10920216
• 负责人: Vence L Bonham
• 金额: $ 31.42万
• 依托单位: NATIONAL HUMAN GENOME RESEARCH INSTITUTE
• 依托单位国家: 美国
• 资助国家: 美国
• 起止时间: 至
• 项目状态: 未结题
• 来源: https://reporter.nih.gov/project-details/10920216
• 关键词: Address; Adult; Advocacy; Advocate; Attenuated; Awareness; Biomedical Research; Child; Clinical; Clinical Data; Clinical Trials; Clustered Regularly Interspaced Short Palindromic Repeats; Communities; Decision Making; Descriptor; Development; Diffusion; Disease; Educational Materials; Equity; Ethnic Origin; Ethnic Population; Focus Groups; Future; Genes; Genetic; Genetic Variation; Genomic medicine; Genomics; Goals; Government; Health; Healthcare; Hematologist; Human Genetics; Individual; Industry; Institution; Medical; Medicine; Methods; Minority; Parents; Patient Care; Patient Education; Patients; Physicians; Population; Process; Provider; Publishing; Race; Recommendation; Recording of previous events; Research; Research Personnel; Resource-limited setting; Resources; Sampling; Science; Services; Sickle Cell Anemia; Social Network; Social Power; Social isolation; Societies; Sociology; US State; Validation; Work; clinical care; cohort; community organizations; education resources; gene therapy; improved; low income country; meetings; novel; preference; public trust; racial population; research study; willingness

With rapid advancements in genomic research, we are at a point where curative genetic therapies (gene therapy and gene editing) are being used in clinical trials. We use mixed-methods to study the views and opinions of SCD community stakeholders (adults living with SCD, parents of individuals with SCD, and SCD providers) and conduct normative research on somatic and germline gene editing which builds on this foundational qualitative study. We conducted 15 focus groups (six groups of adults with SCD; six groups of parents with a child with SCD and three groups of hematologists caring for patients with SCD) in seven US states. All three stakeholder cohorts were hopeful that gene editing could be the overdue, impactful treatment for SCD, often referencing the lack of treatments available for SCD compared to other diseases. Patients and parents discussed willingness to support future CRISPR-based clinical trials if suffering and social isolation are attenuated as a result. Four broad themes emerged from this work: (1) factors influencing ones decision to participate (e.g. improve health of individual or child; contribute to science; and help other individuals with the disease), (2) information requirements for decision making (e.g. clinical data, track record of research) (3) patient and parent preferences for soliciting guidance (e.g. primary physician) and (4) recommendations for the research community on meaningful engagement (e.g. patient centric studies; quality education resources and transparency). In 2018 we published the first analyses from this study in Genetics in Medicine. One of the main concerns from these focus groups was the lack of high quality, accessible information available to the public on gene therapy. To address this need, we conducted a stakeholder-engaged study to create, informative, educational materials for SCD gene therapy. The study included the engagement of SCD gene therapy stakeholders (i.e. industry representatives, researchers, patient advocates, and individuals living with SCD) with the goal to develop and create these necessary patient education materials and study the processes of engagement. We continue to study the social networks and power dynamics that might have influenced this meeting. In addition, we are examining the development of partnerships with community-based organizations and advocacy groups. Examining the equitable integration of genomics in health Care and society project includes studying the utility of race and ethnicity as population descriptors in genomics research studies. Correspondingly, we investigated the historical and current sociological context of race and ethnicity in genomics research. This includes an examination of the history of the concept of ethnicity, with a specific focus on historical developments that can inform current practices surrounding population descriptors in genetics. Examining the impact of mistrust on biomedical research and healthcare through the validation of the Institutional Medical Mistrust Scale to better understand issues of public trust in healthcare and government organizations. We conducted a study using a nationally representative sample.

随着基因组研究的快速发展，我们正处于治疗性基因疗法（基因疗法和基因编辑）被用于临床试验的阶段。我们使用混合方法来研究SCD社区利益相关者（患有SCD的成年人，SCD患者的父母和SCD提供者）的观点和意见，并在此基础上对体细胞和生殖系基因编辑进行规范性研究。 我们在美国7个州进行了15个焦点小组（6组SCD成人; 6组SCD儿童的父母和3组照顾SCD患者的血液学家）。所有三个利益相关者群体都希望基因编辑能够成为SCD迟来的、有影响力的治疗方法，这通常指的是与其他疾病相比，SCD缺乏可用的治疗方法。患者和家长讨论了支持未来基于CRISPR的临床试验的意愿，如果痛苦和社会孤立因此而减轻。这项工作提出了四个广泛的主题：（1）影响人们决定参与的因素（例如，改善个人或儿童的健康;促进科学;并帮助其他患有疾病的人），（2）决策的信息要求（例如临床数据，研究的跟踪记录）（3）患者和家长寻求指导的偏好（4）为研究界提供有意义的参与建议（例如以患者为中心的研究;优质教育资源和透明度）。2018年，我们在《医学遗传学》杂志上发表了这项研究的第一批分析。 这些重点小组的主要关切之一是缺乏高质量的、可供公众获得的基因治疗信息。为了满足这一需求，我们进行了一项研究，为SCD基因治疗创建信息丰富的教育材料。该研究包括SCD基因治疗利益相关者（即行业代表，研究人员，患者倡导者和SCD患者）的参与，目的是开发和创建这些必要的患者教育材料并研究参与过程。我们继续研究可能影响这次会议的社交网络和权力动态。此外，我们正在审查与社区组织和宣传团体发展伙伴关系的问题。 研究基因组学在医疗保健和社会项目中的公平整合，包括研究种族和民族在基因组学研究中作为人口描述符的效用。相应地，我们调查了基因组学研究中种族和民族的历史和当前社会学背景。这包括对种族概念的历史进行审查，特别关注历史发展，这些发展可以为遗传学中人口描述符的当前做法提供信息。 通过验证机构医疗不信任量表来检查不信任对生物医学研究和医疗保健的影响，以更好地了解公众对医疗保健和政府组织的信任问题。我们使用具有全国代表性的样本进行了一项研究。