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: 10683836
• 负责人: Vence L Bonham
• 金额: $ 16.67万
• 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/10683836
• 关键词: Address; Adult; Advocate; Attenuated; Awareness; Child; Clinical; Clinical Data; Clinical Trials; Clustered Regularly Interspaced Short Palindromic Repeats; Communities; Decision Making; Descriptor; Development; Diffusion; Disease; Educational Materials; Ethnic Origin; Ethnic group; Focus Groups; Foundations; Future; Genes; Genetic; Genetic Variation; Genomic medicine; Genomics; Geographic state; Goals; Health; Healthcare; Hematologist; Human Genetics; Individual; Industry; Information Services; 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; Science; Sickle Cell Anemia; Social isolation; Societies; Sociology; Work; base; clinical care; cohort; education resources; gene therapy; improved; low income country; novel; preference; 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 are conducting 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. 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 are investigating 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.

随着基因组研究的快速发展，我们正处于将治疗性基因疗法（基因治疗和基因编辑）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，并在此基础上进行体细胞和种系基因编辑的规范性研究。