Facilitating Implementation Science within the SIBS Genomics Study (SIBS-Gen-Gen)

促进SIBS基因组研究中的实施科学(SIBS-Gen-Gen) 项目总结 中风是导致长期残疾的主要原因，仍然是全球第二大最常见的死亡原因 在非洲血统的人中负担最重。中风是一种复杂的特征，具有实质性的 基因方面的贡献。虽然MEGASTROKE在其他患者中发现了缺血性卒中的某些基因变异 不包括非洲原住民(IA)的人群，中风调查范围内的候选基因研究 研究和教育网络(SIREN)已经报告了一些位置，我们正在进行第一次 全基因组关联研究揭开非洲土著人群中风的遗传决定因素 使用基因组学(SIBS基因组学)对黑人卒中患者进行系统调查(R01- NS107900)。 虽然已确定的危险因素，如高血压的评估结果被披露为无中风 对于个体来说，在将其转化为实践之前验证其新出现的遗传决定因素是至关重要的 社区。此外，探讨披露基因检测结果的影响是至关重要的 适用于无中风的个人及其家庭成员。伦理、临床和社会影响 披露临床上有意义的多基因性状基因决定因素的基因测试结果 作为中风，在IA中还没有特征。翻译来自警报器的即将和未来的发现 和SIBS基因组学通过实施科学研究临床和社区服务，它是 了解无中风患者对信息披露的看法、偏好和态度很重要 中风的遗传结果。 因此，利用行政补充机制回应NOT-TW-19-003，我们将 对SIB基因组学(R01-NS107900)进行一项名为SIBS基因组学-遗传学的辅助研究 咨询(SIBS-Gen-Gen)，为将其调查结果推广到实践和人口做准备。 我们将调查非中风患者对披露中风的看法、偏好和态度 中风的基因测试结果，同时建设披露结果和基因的能力 中风的咨询服务。我们将探索不同级别的遗传变异的临床应用 创新扩散理论，以在社会生态模型的几个层面上探索这些问题：a) 个人：427名无中风对照；b)他们的家人/重要的其他人；c)医疗保健提供者和d) 社区。 我们还将举办一个关于遗传咨询的工作坊，培训研究助理、研究人员、 医疗保健提供者和SIBS基因组公司的社区参与人员关于结果的披露 与中风/多基因风险评分相关的经验证的致病基因变异；以及如何处理 非致病结果和未知意义的变异。这项研究将为以下项目提供试点数据 设计卒中基因检测结果公开的随机对照试验。

Facilitating Implementation Science within the SIBS Genomics Study (SIBS-Gen-Gen) PROJECT SUMMARY Stroke, a leading cause of long-term disability, is still the second most common cause of death globally with its highest burden among people of African ancestry. Stroke is a complex trait with substantial genetic contribution. While MEGASTROKE identified certain genetic variants for ischemic stroke in other populations excluding indigenous Africans (IA), candidate gene studies within the Stroke Investigative Research and Education Network (SIREN) have reported some loci, and we are conducting the first genome-wide association study to unravel genetic determinants of stroke among indigenous Africans within the Systematic Investigation of Blacks with Stroke using Genomics (SIBS Genomics) study (R01- NS107900). While results of assessment of established risk factors such as hypertension is disclosed to stroke-free individuals, it is critical to validate its emerging genetic determinants before translation to practice community. Moreover, it is crucial to explore the implications of disclosure of the results of genetic test for stroke to stroke-free individuals and their family members. The ethical, clinical, and social implications of disclosure of genetic test results for clinically significant genetic determinants of polygenic traits such as stroke, has not been characterized among IA. To translate imminent and future findings from SIREN and SIBS Genomics studies into clinical and community services through implementation science, it is important to understand stroke-free individuals’ perception, preferences and attitude towards disclosure of genetic results for stroke. Therefore, using the administrative supplement mechanism in response to NOT-TW-19-003, we will conduct an ancillary study to SIB-Genomics (R01-NS107900) called SIBS Genomics-Genetic counselling (SIBS-Gen-Gen) to prepare for generalization of its findings to practice and the population. We will investigate stroke-free individuals’ perception, preferences and attitudes towards disclosure of results of genetic testing for stroke while building capacity for disclosure of results and genetic counselling for stroke. We will explore the various tiers of clinical utility of genetic variants using the diffusion of innovations theory to explore these at several levels of the socio-ecological model: a) individual: 427 stroke-free controls; b) their family/significant others; c) healthcare providers and d) community. We will also conduct a workshop on genetic counseling to train the research assistants, investigators, healthcare providers, and community engagement staff of SIBS Genomics on the disclosure of results of validated pathogenic genetic variants associated with stroke/polygenic risk score; and how to handle non-pathogenic results and variants of unknown significance. This study will provide pilot data for designing a randomized controlled trial on disclosure of stroke genetic tests results.