Abstract
The future applications of genetic testing have expanded with the completion of the human genome project. Researchers have discovered genetic polymorphisms that predispose individuals to common diseases, such as diabetes, glaucoma, and prostate cancer. Recently, several companies have begun offering personal genome testing (PGT) for predisposition to common diseases. The aim of this study was to explore customers’ motivations for pursuing personal genome testing and their experiences regarding PGT, including their health behavior changes since receiving their results. We recruited PGT customers as study participants using a newsletter and email distribution provided by Navigenics, a commercial laboratory offering PGT services. Respondents were invited to complete an anonymous, online survey consisting of both multiple choice and open-ended questions. Of the 98 survey respondents, most (85.7%) said that the PGT process met their expectations and that the results were useful in making medical decisions (78.1%). Just over half of the respondents (54.8%) reported making behavioral changes after receiving their PGT results. Of these, lifestyle changes, such as diet and exercise, were the most often cited. The most common motivating factor for PGT was, “to define my chance of developing any common disease” (77.1%). Curiosity was the second most common motivating factor (67.5%). Individuals that reported having children were more likely to be motivated by a wish to define risk to family than individuals who reported having no children. Our study population represents a small subset of PGT customers from a single laboratory. Despite hesitation in the medical and genetics community regarding the clinical utility of PGT, our findings suggest that many of these individuals have a positive perception of PGT. Future research to further explore the role of genetic counselors and physicians in the PGT process could provide additional insight into the consumer perspective.