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

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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.