Exploring Perspectives on Genomics and Sickle Cell Public Health Interventions

描述（由申请人提供）：H3Africa为研究非洲镰状细胞病（SCD）的研究、诊断、干预和治疗中的遗传和基因组技术提供了前所未有的机会。因此，让已经参与非洲镰状细胞病研究前沿、在社会心理研究（喀麦隆）、新生儿筛查（加纳）或基因组学研究（坦桑尼亚）方面具有一定专业知识的几个非洲中心参与进来，可以作为严格审查一系列相关伦理、社会心理、文化和政策问题的宝库。虽然在非洲，关于基因组研究和scd相关公共卫生战略的看法、效用和影响有少量的推测和一些理论/概念文献，但很少有经验数据可用。来自广泛利益相关者的经验数据对于制定有效的政策和规划至关重要。这个试点项目的一个主要目标是促进我们对我们合作网络中研究人员、卫生专业人员和社区人口关于基因组研究和SCD公共卫生方面的观点的理解。我们将采用定性研究方法来追求以下具体目标：目标1：探索关于基因组研究及其在喀麦隆、加纳和坦桑尼亚的实施和影响的观点和态度。目标2：评估对公共卫生干预措施的认识，以提高对scd相关并发症的认识、早期发现和预防。本研究是一系列纵向、混合方法研究的第一阶段，这些研究从个人、家庭、社区和专业角度探讨基因组研究和与scd相关的公共卫生干预措施。这项形成性研究将帮助我们确定最有效的战略：1)实施基因组研究并解决相关问题；2)确保对新生儿筛查、其他SCD公共卫生干预措施和相关服务的知情决策和最佳吸收。

DESCRIPTION (provided by applicant): H3Africa provides an unprecedented opportunity to study genetic and genomic technologies into research, diagnosis, intervention, and treatment for sickle cell disease (SCD) in Africa. As such, involving a few African Centers already involved in the forefront of Sickle Cell Disease Research in Africa with moderate expertise on psychosocial research (Cameroon), newborn screening (Ghana) or genomics studies (Tanzania) could serves as a reservoir for rigorous examination of a wide range of accompanying ethical, psychosocial, cultural, and policy issues. While there is a moderate amount of speculation and some theoretical/conceptual literature about the perceptions, utility, and impact of genomic research and SCD-related public health strategies in Africa, little empirical data are available. Empirical data from a broad spectrum of stakeholders are essential to the development of effective policies and programs. A major objective of this pilot project is to advance our understanding of the perspectives of researchers, health professionals, and community populations within our collaborative network concerning both genomic research and the public health aspects of SCD. We will employ qualitative research methods to pursue the following specific aims: Aim 1: Explore perspectives and attitudes regarding genomic research and its implementation and implications in Cameroon, Ghana and Tanzania. Aim 2: Assess perceptions about public health interventions to increase awareness, early detection, and prevention of SCD-related complications. This research is the first phase of a series of longitudinal, mixed method studies exploring individual, family, community, and professional perspectives on genomic research and SCD-related public health interventions. This formative research will help us to define the most effective strategies for: 1) implementing genomic research and addressing the pertinent issues and 2) insuring informed decision-making about and optimal uptake of newborn screening, other public health interventions for SCD, and the related services.