New information from the mapping of the human genome has the potential to significantly alter the way we view and react to individuals and groups. At the same time, our reactions to this new information will be shaped by the manner in which it is presented to and understood by the public and by existing attitudes about the groups to whom the information applies. The proposed research examines the impact of human genomic research on existing forms of stigma.
A significant proportion of patients who pursue testing for BRCA gene alterations are of reproductive age. Many are actively engaged in decisions about family planning or will be in the future. A prime concern of this population is minimizing the impact of hereditary cancer on their children. Genetically-enhanced assisted reproductive technologies (ART), such as preimplantation genetic diagnosis (PGD), as well as prenatal diagnosis (PND) followed by consideration of selective abortion, may enable individuals and couples to avoid passing genetic mutations on to their children.
Many genotype and genome-wide association studies (GWAS) are conducted using a phenotype-driven approach: cases and controls are identified based on the presence or absence of a particular condition and analyses are undertaken to identify gene variants associated with that condition. The inverse--a genotype-driven approach--is receiving increasing attention as another powerful tool for understanding the impact of genetic variation.
The proposed project explores how researchers in the new and growing arena of gene- environment interaction (GxE) research operationalize the concept of "a human population." The proposed project will add critical information about how traditional epidemiologists and genetic epidemiologists, using different kinds of data, work together to operationalize groups in their biomedical studies of disease.
The proposed project explores a new direction in our larger research on the use of human genetic variation studies in the search for biomedically related genetic markers. Broadly, the aim of the new add-on project and the original project is to understand how human genetic variation researchers operationalize the concept of "a human population." Together, these studies will provide empirical information that will help geneticists and bioethicists to understand whether there may be potential downstream social and biomedical consequences of different conceptualizations.
Completing the Human Genome and the Human HapMap Projects has enabled studies associating genetic variation with complex diseases such as various cancers, coronary artery disease, and diabetes. This has led to the emergence of direct-to-consumer testing companies offering genomic profiling to inform individuals about their risk for dozens of diseases and traits. Such testing is being offered with the assumption that identification of an increased risk could lead to preventative measures to reduce a person's risk for developing disease or to improve disease outcome.
Rapid advancements in genetic technology, the popularity and coverage of genetics by the press, and the increased understanding of the role genetics plays in our health necessitates a basic understanding of the science for everyone. In spite of this increased exposure to genetics, a study by Bowling (2008) indicated that the public's genetics literacy remains relatively low. Studies looking specifically at the genetics knowledge of students in grades K-12 also show low levels of understanding.
A significant number of NIH-funded projects are under the jurisdiction of an explicit data release policy. Such projects include: any project with direct costs of more than $500,00 per year, any genome-wide association study, and most community resource projects.
Biobanks that collect and store participants' clinical and genetic information have become important tools in genomic research, disseminating data to a large number of investigators conducting genome-wide association studies and other genomic research. The ubiquity of these biobanks in research and the fact that many of their uses will be undetermined at the time a participant consents pose a host of ethical challenges related to privacy rights, participant consent, and data sharing.
The proposed research seeks to contribute to an emerging literature that assesses the philosophical implications of the ecological concepts, metaphors, and analogies that are beginning both to frame our understanding of the human microbiome and to challenge entrenched mechanistic concepts of the human body and the human being -- entrenched concepts that not only include the "blueprint" analogies of the Human Genome Project but stretch back at least to the discovery of the circulation of the blood.