Doctoral Dissertation Research Improvement Grant: Cultural Models of Genetic Screening & Perceptions of Sickle Cell Disease in High-Risk Guadeloupean French Communities

康乃狄克大学博士生Shan-Estelle Brown，由Pamela I博士指导。埃里克森，将进行非专业医学知识，风险认知和决策之间的关系，关于隐性遗传疾病的先入为主的筛查研究。由于隐性遗传病的携带者可能没有症状，未能进行筛查可能导致本可避免的疾病持续存在。布朗假设，不寻求检测的决定受到文化因素的影响，包括对遗传风险的理解和对筛查的看法。这项研究将在法国加勒比海省瓜德罗普进行。瓜德罗普的镰状细胞病患病率很高，但瓜德罗普的居民很少寻求检测以了解他们的携带者状况。为了了解可能影响人们是否寻求检测的社会文化因素，布朗将在镰状细胞病诊所附近的社区进行研究。她将通过参与者观察和半结构化和结构化访谈收集定性数据，探索影响基因检测决策的因素，如亲属关系，宗教，歧视和镰状细胞病的个人经历，以及民族医学知识和对基因筛查的看法。为了确定这种疾病的文化模式，她将在一个横断面设计中使用文化共识分析（主成分分析的一种形式），比较已经接受测试的人，计划接受测试的人，以及不打算接受测试的人。这项研究很重要，因为对携带者身份的无知可能会导致未来几代慢性病儿童的家庭和国家的额外护理负担。这项研究将有助于遗传咨询师提供深入了解个人如何作出决定，他们自己的健康和他们的孩子的健康。它可以帮助咨询师帮助客户克服犹豫，与亲戚和伴侣分享新确定的携带者状态。该项目有助于社会科学家的教育。

University of Connecticult doctoral student, Shan-Estelle Brown, supervised by Dr. Pamela I. Erickson, will undertake research on the relation between lay medical knowledge, risk perception, and decision making regarding preconceptive screening for recessive genetic diseases. Because carriers of recessive genetic diseases may have no symptoms, failure to access screening can result in the persistence of otherwise avoidable conditions. Brown hypothesizes that the decision not to seek testing is influenced by cultural factors, including understandings of genetic risk and perceptions of screening.The research will be carried out in Guadeloupe, the Caribbean department of France. Guadeloupe has a high prevalence of sickle cell disease, yet few residents of Guadeloupe seek testing to know their carrier status. To understand the sociocultural factors that may influence people's decisions to seek testing or not, Brown will conduct the research in neighborhoods near a sickle cell disease clinic. She will gather qualitative data through participant observation and semistructured and structured interviews, exploring factors that affect decision making about genetic testing such as kinship, religion, discrimination, and personal experience with sickle cell disease, as well as ethnomedical knowledge and perceptions of genetic screening. To determine the cultural models of the disease, she will use cultural consensus analysis (a form of principle components analysis) in a cross-sectional design that compares people who have been tested, who plan to be tested, and who do not plan to be tested.The research is important because carrier status ignorance can result in future generations of chronically sick children with an additional burden of care to families and the state. This research will assist genetic counselors by providing insight into how individuals make decisions about their own health and their children's health. It can help counselors aid clients in overcoming hesitance to share newly identified carrier status with relatives and partners. The project contributes to the education of a social scientist.