Whole Genome Sequencing for Orofacial Clefts, Incidental Findings and Role of Community Gatekeepers

口面部裂痕的全基因组测序、偶然发现和社区看门人的作用

• 批准号: 10358751
• 负责人: Azeez Butali
• 金额: $ 13.4万
• 依托单位: UNIVERSITY OF IOWA
• 依托单位国家: 美国
• 财政年份: 2021
• 资助国家: 美国
• 起止时间: 2021-08-03 至 2022-01-31
• 项目状态: 已结题
• 来源: https://reporter.nih.gov/project-details/10358751
• 关键词: Address; Affect; Africa; African; Attitude; Awareness; Belief; Beneficence; Birth; COVID-19 pandemic; Candidate Disease Gene; Caring; Christianity; Collaborations; Communication; Communities; Complex; Congenital Disorders; Country; Data; Decision Making; Deformity; Elderly; Environmental Risk Factor; Etiology; Face; Family; Family Planning; Family member; Feeling; Focus Groups; Friends; Gatekeeping; Genetic; Genetic Counseling; Genetic Predisposition to Disease; Genetic Research; Genetic Variation; Genomics; Health; Health Personnel; Human; Incidental Findings; Individual; Influentials; Infrastructure; Inherited; Institution; Iowa; Justice; Knowledge; Live Birth; Medical; Methods; Muslim religion; Mutation; National Human Genome Research Institute; Nigeria; Parents; Participant; Play; Poliomyelitis; Population; Principal Investigator; Public Health; Publications; Qualitative Research; Religion; Religion and Spirituality; Research; Research Methodology; Resources; Rest; Risk; Role; Running; Services; Stigmatization; Thinking; Underrepresented Populations; Universities; base; community engagement; congenital anomaly; genetic testing; genome sequencing; genome wide association study; insight; member; orofacial cleft; public health intervention; risk mitigation; risk variant; social stigma; success; whole genome

PROJECT SUMMARY: Orofacial clefts (OFCs) are some of the most common congenital anomalies in humans, affecting one out of every 700 live births globally. The etiology is multifactorial, with a complex interaction of genetic and environmental factors. Several strategies have been used to identify the genetic etiology of OFCs; these include Linkage, Genome-wide Association Studies (GWAS), and Whole Genome Sequencing (WGS). The robustness of WGS data allows the discovery of new cleft risk loci and candidate genes while also providing the opportunity to identify "incidental findings" different from the primary research intent that may have immediate medical implications for study participants and their relatives. Evidence suggests that stigmatization from family members, friends, community members, health-care workers, and the affected parents are associated with OFCs. Maximizing beneficence and justice from results in a population with vast genetic diversity albeit underrepresented in genetic and genomic research requires working with several people and exploring methods with proven success in these regions, including community engagement. Available evidence has shown gatekeepers to be influential in research across varying context in Africa. However, there is little information on the role of gatekeepers in genetics and genomics research. The proposed research aims to assess the understanding of community gatekeepers in Nigeria and their opinions on communicating incidental genetic research findings in the context of OFCs that is already associated with stigmatization. This will be achieved by addressing the following (1) determine the feelings of gatekeepers about genomic risk information, (2) explore the opinions of gatekeepers on the acceptance of incidental findings by their members and (3) evaluate the possibility of religious leaders' involvement in participatory and collaborative decision- making for genomic research risk communications. This project will be driven by Dr Butali as Principal Investigator. He will collaborate with Dr. Odukoya at the University of Lagos, and Dr. Adeyemo at the NHGRI. Collectively, we anticipate that this study will help create the awareness for omics research amongst the gatekeepers, who in turn from their point of influence will increase genomic research awareness in the public.

项目概要： 口面部裂 (OFC) 是人类最常见的先天性异常之一，影响着四分之一的人 全球每 700 名活产婴儿。其病因是多因素的，遗传因素和遗传因素之间存在复杂的相互作用。 环境因素。已使用多种策略来确定 OFC 的遗传病因；这些 包括连锁、全基因组关联研究 (GWAS) 和全基因组测序 (WGS)。这 WGS 数据的稳健性允许发现新的裂隙风险位点和候选基因，同时还提供 有机会识别与主要研究意图不同的“偶然发现” 对研究参与者及其亲属的直接医学影响。有证据表明污名化 来自家庭成员、朋友、社区成员、医护人员和受影响的父母 与 OFC 相关。从拥有大量遗传基因的人群中获得最大程度的仁慈和正义 尽管在遗传和基因组研究中代表性不足，但多样性需要与多人合作 探索在这些地区已被证明成功的方法，包括社区参与。可用的 有证据表明，看门人在非洲不同背景下的研究中具有影响力。然而，有 关于守门人在遗传学和基因组学研究中的作用的信息很少。拟议的研究目标 评估尼日利亚社区看门人的理解及其对沟通的看法 OFC 背景下的偶然基因研究发现已经与污名化相关。这 将通过解决以下问题来实现 (1) 确定看门人对基因组风险的感受 信息，(2) 探讨看门人对其成员接受附带调查结果的意见 (3) 评估宗教领袖参与参与性和协作性决策的可能性—— 促进基因组研究风险沟通。该项目将由 Butali 博士作为负责人推动 研究者。他将与拉各斯大学的 Odukoya 博士和 NHGRI 的 Adeyemo 博士合作。 总的来说，我们预计这项研究将有助于提高人们对组学研究的认识 守门人，他们反过来会从他们的影响力角度提高公众对基因组研究的认识。