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

康州大学博士生Shan-Estelle Brown将在Pamela I. Erickson博士的指导下，对外行医学知识、风险认知和隐性遗传疾病先期筛查决策之间的关系进行研究。由于隐性遗传疾病的携带者可能没有任何症状，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，不去做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岛进行。瓜德罗普岛镰状细胞病发病率高，但很少有瓜德罗普岛居民寻求检测以了解其携带者状况。为了了解社会文化因素可能会影响人们决定是否寻求检测，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。为了确定疾病的文化模型，她将在横断面设计中使用文化共识分析（主成分分析的一种形式），对已经接受测试的人、计划接受测试的人和不计划接受测试的人进行比较。这项研究很重要，因为对携带者身份的无知可能会导致后代的慢性病儿童给家庭和国家带来额外的照顾负担。这项研究将帮助遗传咨询师深入了解个人如何对自己的健康和孩子的健康做出决定。它可以帮助咨询师帮助客户克服与亲属和伴侣分享新发现的携带者身份的犹豫。这个项目有助于培养社会科学家。

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.