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.
Genetics is a rapidly changing biomedical field with improving technologies to predict risk for diseases caused by genetic mutations. How at-risk individuals relate to their own genetic risk for hereditary diseases contributes to our understanding of their receptiveness to genetic technology. Carrier status ignorance can result in future generations of chronically sick children with an additional burden of care and cost to families and to the state. One in 260 babies born each year in Guadeloupe, French West Indies, has sickle cell disease and the frequency makes the disease an important public health concern. This region of France has a high prevalence for sickle cell disease and the availability of free genetic testing. The study used anthropological techniques of participant observation, interviews, and surveys to understand the relationship between health, illness, and an understudied population at risk for genetic disease. This study investigated several kinds of knowledge including ethnomedical knowledge about sickle cell disease and sociocultural variation in perceptions of genetic screening. The project also determined to what extent individuals make informed choices about genetic testing by assessing biomedical knowledge and individual attitudes about genetic testing for sickle cell disease carrier status. Results from participant observation, pile sorting, interviewing, and survey data related sickle cell disease in relation to other important conditions. Findings also uncovered conflicting attitudes about difference, interpersonal relationships and experiential knowledge, and social motivations to protect information about oneself from the community. The study suggests a need to consider broader interpretations of perceptions of self and understandings about genetic disease and associated medical technologies beyond a solely biomedical framework. Broader implications of the research include assisting genetic counselors by providing insight into how people, especially women and underrepresented minorities, make decisions about their own health and the health of their children. This research can help counselors aid clients in overcoming their hesitance to share newly identified carrier status with family members and partners. Knowledge gained from this research will aid program developers and policymakers interested in improving future local, state, and federal public health interventions directed at increasing the numbers of individuals screened for genetic diseases like sickle cell disease. The research has an immediate applied benefit: improving health promotion in at-risk communities in the United States through organizations such as the Sickle Cell Disease Association of America. Although this research focuses on sickle cell disease, understanding how people think about genetic testing has application to a wide range of genetic diseases.
