Examining the Equitable Integration of Genomics in Health Care and Society

随着基因组研究的快速发展，我们正处于治疗性遗传疗法(基因疗法和基因编辑)正在临床试验中使用的时刻。我们使用混合方法研究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生殖系基因编辑的规范研究。 我们在美国七个州进行了15个焦点小组(六组SCD成人；六组有SCD儿童的父母和三组照顾SCD患者的血液学家)。所有三个利益相关者群体都希望，基因编辑可能是SCD迟来的、有效的治疗方法，他们经常提到，与其他疾病相比，SCD缺乏可用的治疗方法。患者和父母讨论了如果痛苦和社会孤立因此减轻的话，是否愿意支持未来基于CRISPR的临床试验。这项工作产生了四个广泛的主题：(1)影响个人参与决定的因素(例如，改善个人或儿童的健康；促进科学；以及帮助其他患有这种疾病的个人)，(2)决策的信息要求(例如，临床数据、研究记录)(3)患者和家长征求指导的偏好(例如，主治医生)和(4)向研究界推荐有意义的参与(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》上发表了这项研究的第一批分析。 这些焦点小组的主要关切之一是，公众缺乏关于基因治疗的高质量、可获得的信息。为了满足这一需求，我们正在进行一项利益相关者参与的研究，为SCD基因治疗创造信息丰富的教育材料。这项研究包括SCD基因治疗利益相关者(即行业代表、研究人员、患者权益倡导者和SCD患者个人)的参与，目的是开发和创建这些必要的患者教育材料，并研究参与的过程。 审查基因组学在卫生保健和社会项目中的公平整合包括研究种族和民族作为基因组学研究研究中的人口描述符的效用。相应地，我们正在调查基因组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的审查，特别侧重于历史发展，这些发展可以为遗传学中围绕人口描述符的当前做法提供信息。

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.