How do ordinary Americans make sense of genetic research? How might they decide whether or not to participate in such research? The proposed study aims to address these questions, in a two-year panel study unfolding in three broad phases:
-an initial, general-population baseline survey of relevant knowledge, attitudes and opinions;
Genetic susceptibility testing for common diseases will become widespread soon and form an integral component of evidence-based medicine and health care delivery. With advances in personalized risk assessments come the added challenges of effectively interpreting and communicating the risk implications of test findings to the public and health care professionals. Genetic counselors are at the forefront of addressing these and forthcoming risk communication challenges.
Pharmacogenetic testing is considered one of the most promising clinical applications arising from genomics research, with the potential to reduce adverse drug responses and improve efficacy of drug treatment. Because pharmacogenetic tests address a specific question about drug therapy, they have generally been viewed as having fewer ethical and social implications than other types of genetic testing. Yet some policy concerns will need to be addressed before pharmacogenetic tests can be introduced appropriately into clinical practice.
Genetic testing for BRCA1 and BRCA2 (BRCA1/2) mutations is part of routine clinical care for women with a family history of breast or ovarian cancer. However, a mutation in these genes is not identified in most women who pursue testing. Such "uninformative" results do not rule out the possibility of an inherited susceptibility to these cancers. The absolute risks for breast and ovarian cancer are heterogeneous and must be estimated based upon an analysis of the family pedigree.
As evidenced by the endless reports of new discoveries in genetics and genomics over the past few decades, the public's views will substantially influence the uptake and use of these new applications for personal and societal benefit. Informed decision-making regarding the use of genomic applications will depend on public understanding of both basic scientific concepts and social implications to enable consideration of personally significant risks and benefits. Furthermore, informed publics are critical for the large population studies often required in genome sciences.
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 mapping of the human genome has allowed researchers to discover new relationships between genotype and phenotype, and has provided the basis for genome-informed medical decision-making that will lead to diagnoses and therapies that are targeted, have reduced variability, maximize efficacy, and minimize adverse effects. As information of greater health significance is generated by genomic research, there is an emerging consensus that the ethical return of genomic information will be needed.
Disclosing the prospect or discovery of genomic IFs to clinical patients or prospective research subjects is an area fraught with ethical, legal, social, and practical challenges. These challenges are being magnified with the advent of Genome Wide Association Studies (GWAS) and Chromosomal Microarray Analysis (CMA). The potential for identifying IFs and how this potential should be addressed for GWAS, CMA, and other genomic research and clinical applications is a novel prospect with which researchers, clinicians, research subjects, patients, and policy makers have limited experience.
Primary care physicians have almost no training in genetics, nor in the ethical, legal and social implications (ELSI) of genetic testing, diagnosis and therapy. Further, mere provision of curricular content fails to impact physician behavior. However, programs with elements that are based on established educational and adult learning principles have been shown to effective in affecting behavioral change.
This empirical and normative bioethics research project will guide policy and practice about the disclosure of genomic incidental findings (GIFD), a much-debated topic. With ethical guidance from a multidisciplinary ELSI Working Group, we will conduct an experiment designed to develop strategies for offering incidental findings to family members of probands in a biobank for pancreatic cancer.