Basic knowledge of genetics is essential for understanding genetic testing and counseling. The lack of a written, English language, validated, published measure has limited our ability to evaluate genetic knowledge of patients and families. Here, we begin the psychometric analysis of a true/false genetic knowledge measure. The 18-item measure was completed by parents of children with congenital heart defects (CHD) (n=465) and adolescents and young adults with CHD (ages 15-25, n=196) with a mean total correct score of 12.6 (SD=3.5, range 0-18). Utilizing exploratory factor analysis, we determined that one to three correlated factors, or abilities, were captured by our measure. Through confirmatory factor analysis, we determined that the two factor model was the best fit. Although it was necessary to remove two items, the remaining items exhibited adequate psychometric properties in a multidimensional item response theory analysis. Scores for each factor were computed, and a sum-score conversion table was derived. We conclude that this genetic knowledge measure discriminates best at low knowledge levels and is therefore well suited to determine a minimum adequate amount of genetic knowledge. However, further reliability testing and validation in diverse research and clinical settings is needed.

Purpose Because of the increased risks associated with unplanned pregnancy for males and females with congenital heart disease (CHD), we investigated sexual intercourse and contraception use in these adolescents and young adults (AYA) and compared the same with national and state population data. Methods We recruited 337 AYA with structural CHD aged 15–25 years (Mage = 19 years, standard deviation = 3.1; 53% male, 84% white) from an outpatient cardiology clinic to participate in a larger study assessing genetic knowledge and health behaviors. Cumulative lifetime prevalence of adolescent (aged 15–18 years) sexual intercourse was compared with the 2011 Youth Risk Behavior Surveillance System and the 2007 Ohio Youth Risk Behavior Survey. Cumulative lifetime prevalence of young adult (aged 19–25 years) sexual intercourse and contraception use at last sex were compared with the 2006–2008 National Survey of Family Growth. Results Reported rates of ever having sexual intercourse, 26% of adolescents and 74% of young adults with CHD, were significantly lower than general population rates (47% and 86% respectively; p < .001). Similar to the general population, 77% of previously sexually active young adults with CHD reported using at least one effective method of contraception at last intercourse, whereas 25% used dual effective methods and 23% used no effective method. Conclusions Lower rates of ever having sexual intercourse in this population suggest that the psychosexual development of AYA with CHD may lag behind their peers. As nearly one in four participants reported using no effective method of contraception, health care providers should increase discussions of contraception with males and females with CHD.