Effective Procedures for Conducting Genetic Prevalence Studies With Children1

In this study, the effectiveness of genetic screening study procedures was examined. One analysis was designed to explore whether having a genetic screening study simply introduced by a physician who had just completed a child's evaluation (vs. introduced by an unfamiliar individual) influenced whether the child's parent enrolled the child in the study. Also examined were explanations for nonenrollment and final enrollment decisions among individuals initially uncertain about enrollment. The primary finding was that a physician's introduction to the genetic screening study was associated with a 17% increase in enrollment, and with a 9.9% greater rate of enrollment overall. The rate of increase was greatest among physicians who were most consistent with introducing the screening study. Initially undecided individuals comprised 14% of the final sample. Many parents who chose not to participate felt that the research study was not important. A smaller percentage of parents chose not to enroll in the genetic study because of discomfort with genetic testing. The findings have important implications for designing effective procedures for prevalence research.