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

促进 SIBS 基因组学研究 (SIBS-Gen-Gen) 中的科学实施

• 批准号: 9933563
• 负责人: BRUCE OVBIAGELE
• 金额: $ 11.14万
• 依托单位: COLLEGE OF MEDICINE, UNIVERSITY OF IBADAN
• 依托单位国家: 美国
• 财政年份: 2018
• 资助国家: 美国
• 起止时间: 2018-09-01 至 2022-08-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/9933563
• 关键词: Administrative Supplement; African; Alcohol consumption; Ancillary Study; Attitude; Awareness; CDKN2A gene; Candidate Disease Gene; Caring; Cause of Death; Clinical; Clinical Services; Communities; Community Practice; Community Services; Complex; Consumption; Data; Dementia; Development; Diabetes Mellitus; Diffusion of Innovation; Disclosure; Disease; Dyslipidemias; Education; Educational workshop; Electronic Mail; Environmental Risk Factor; Ethics; Family; Family history of; Family member; Foundations; Future; Genetic; Genetic Counseling; Genetic Determinism; Genetic screening method; Genetic study; Genomics; Goals; Guidelines; HDAC9 gene; Health Knowledge, Attitudes, Practice; Health Personnel; Health Policy; Heart Diseases; Heritability; Hypertension; Incidence; Indigenous; Individual; Interleukin-6; Investigation; Ischemic Stroke; Knowledge; Lacunar Infarctions; Meat; Modeling; Muslim religion; Participant; Pathogenicity; Perception; Policies; Policy Maker; Polygenic Traits; Population; Prevalence; Randomized Controlled Trials; Religion; Reporting; Research; Research Assistant; Research Personnel; Research Training; Risk; Risk Factors; Sampling; Secondary Schools; Sodium Chloride; Stress; Stroke; Stroke prevention; Telephone; Test Result; Text Messaging; Translating; Translations; Unmarried; Vegetables; Waist-Hip Ratio; cigarette smoking; clinically significant; data format; design; disability; genetic risk factor; genetic variant; genome wide association study; implementation science; physical inactivity; preference; response; social implication; stroke patient; theories; trait; variant of unknown significance

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.

促进 SIBS 基因组学研究 (SIBS-Gen-Gen) 中的科学实施 项目概要 中风是导致长期残疾的主要原因，仍然是全球第二大常见死因 中风是一种复杂的特征，在非洲血统的人群中负担最重。 MEGASTROKE 在其他疾病中发现了缺血性中风的某些遗传变异。 不包括非洲土著人 (IA) 的人群，中风调查中的候选基因研究 研究和教育网络（SIREN）已经报告了一些位点，我们正在进行第一次 全基因组关联研究揭示非洲土著人中风的遗传决定因素 使用基因组学对黑人中风进行系统调查（SIBS 基因组学）研究 (R01- NS107900）。 虽然高血压等既定危险因素的评估结果已向无中风患者披露 对于个人而言，在转化为实践之前验证其新兴的遗传决定因素至关重要 此外，探索基因检测结果公开的影响也至关重要。 对中风患者及其家庭成员的伦理、临床和社会影响。 披露多基因性状的具有临床意义的遗传决定因素的基因检测结果，例如 作为中风，尚未在 IA 中进行表征 翻译 SIREN 即将发生和未来的发现。 SIBS 基因组学通过实施科学对临床和社区服务进行研究， 对于抚摸无理解个体对披露的感知、偏好和态度很重要 中风的遗传结果。 因此，利用针对NOT-TW-19-003的行政补充机制，我们将 进行 SIB-Genomics (R01-NS107900) 的辅助研究，称为 SIBS Genomics-Genetic 咨询（SIBS-Gen-Gen），为将其研究结果推广到实践和人群做好准备。 我们将调查无中风患者对于披露信息的看法、偏好和态度 中风基因检测结果，同时建立披露结果和基因检测的能力 我们将利用以下方法探索遗传变异的各个层面的临床效用。 创新扩散理论在社会生态模型的几个层面上探索这些：a） 个人：427 名无中风对照者；b) 他们的家人/重要的其他人；c) 医疗保健提供者；以及 d) 社区。 我们还将举办遗传咨询研讨会，培训研究助理、研究人员、 SIBS Genomics 的医疗保健提供者和社区参与人员就结果披露事宜 与中风/多基因风险评分相关的经过验证的致病遗传变异以及如何处理； 本研究将为非致病性结果和意义不明的变异提供试点数据。 设计一项关于披露中风基因检测结果的随机对照试验。