Decision making in the context of genetic testing for hereditary breast and ovarian cancer: Key predictors and influences

Recent advances in human genetics have led to a plethora of interest in understanding how genetic technologies will impact medicine and the public's health. As new genes are discovered, attention has focused on identifying how the public will react to these advances and how to best apply genetic technologies to ensure maximum benefit and minimal harm. Three separate papers were presented in this dissertation. The first paper reviewed the intended outcomes of genetic services and presented various research issues to be addressed: the problem of ill-defined goals, the lack of theoretical guidance with prior studies, and the methodological limitations in study design. Some of these issues were subsequently taken into consideration in the other papers. The second paper was a longitudinal study examining how women are making decisions to undergo genetic testing for hereditary breast and ovarian cancer (BRCA1/2). Informed by the Health Belief Model, results from the second paper suggested that perceptions of susceptibility and severity of being a mutation carrier, as well as worry about having a mutation, were important in the decision to have testing. Finally, the third paper was a randomized trial designed to test the efficacy of two strategies to facilitate the education and counseling process: (1) a CD-ROM program and (2) feedback to the genetic counselor about patients' prior misconceptions. The CD-ROM resulted in reduced time spent face-to-face with the genetic counselor. In addition, among women who were less worried at baseline, those who viewed the CD-ROM had lower rates of genetic testing compared to those who did not view the CD-ROM. Possible mechanisms by which the CD-ROM influenced testing decisions were presented. Taken together, these findings highlight some of the key processes involved in BRCA1/2 testing decisions. Future research is needed to gain a better understanding of how testing decisions are influenced and the impact of test outcomes on protective health behaviors and, ultimately, overall health status.