Over the past year, the Genetics Services Research Unit has completed several investigations in genetic counseling related research: One study capitalized on the availability of new genetic technology. This study recruited 270 healthy insured adults age 25-40 from a parent research project, the Multiplex Initiative, which was conducted within a large health care system in Detroit MI, USA. All participants were offered a multiplex genetic test that assessed risk for eight conditions: type 2 diabetes, osteoporosis, hypertension, coronary heart disease, hypercholesterolemia, skin cancer, lung cancer and colorectal cancer. Data were collected from a baseline survey, a web-based decisional survey, and at the time of testing.
We aim ed to understand relationships between predictor variables and the decision to undergo testing using a conceptual model that originated from an amalgamation of the Theory of Planned Behavior and Protection Motivation Theory. Structural equation modeling identified response efficacy as a predictor (β=0.23, p<0.001) of attitudes toward multiplex genetic testing, which in turn predicted (β=0.46, p<0.001) intentions towards undergoing testing. Intentions to undergo testing were a strong predictor of testing behavior (β=0.97, p<0.001), with 17.67 fold higher uptake among those with intent to undergo testing than for those without. Overall, the tested model explained 56% of the variance in intentions and 95% of the variation in uptake. These findings support the use of variables from the Theory of Planned Behavior in modeling decision-making about a genetic test for multiple health conditions. In this study, prenatal testing decisions were assessed. It has been shown that attitudes toward testing strongly predict prenatal screening decisions, with ambivalence as a moderator. This study examined ambivalence as a moderator of the relationship between attitudes and uptake of invasive prenatal testing. Eighty-four pregnant women referred for prenatal genetic counseling completed measures of attitudes, ambivalence and intentions to undergo invasive prenatal testing. Telephone calls were made to participants four weeks later to learn of their test decision. Attitudes were a strong predictor of both intentions and test uptake. The correlations between attitudes and intentions and between attitudes and uptake were greater in women with lower levels of ambivalence (r=0.76 and r=0.49, respectively) than in women with higher levels of ambivalence (r=0.45 and r=0.03, respectively). The difference between the correlation coefficients for each, intentions and uptake, was significant (p=0.0294 and p=0.0192, respectively). These findings suggest that higher ambivalence modifies the relationship between attitudes and test uptake in invasive prenatal testing decisions. Reducing ambivalence among women facing decisions about prenatal testing may be a useful counseling intervention to enhance informed choices. A further study explored the adaptation of men and boys affected with Klinefelter syndrome. Klinefelter syndrome (XXY) is the most common chromosomal aberration among men, with an estimated frequency of 1:500 to 1:1000. Affected individuals may have hypogonadism, gynecomastia, learning disabilities, infertility, and delay and underdevelopment of secondary sexual characteristics. Despite its high prevalence, prior descriptions of the experience of living with XXY are limited to medical information with few reporting on cognition and behavior. Previous research has raised concerns that individuals with XXY may struggle to adapt to their diagnosis due to decreased language skills, lowered self-esteem, and passivity. The objective of this study was to describe the impact of living with XXY as an adolescent or an adult, and to examine the factors that contribute to adaptation. A cross-sectional design was used to examine the relationships among illness perceptions (perceived consequences and perceived severity), perceived stigma, coping, and adaptation. The 249 respondents were Caucasian (95.6%), partnered or married (48.8%), graduated from college (37.9%) or had completed some college (36.9%), did not have children (75.6%), and were diagnosed in adulthood (47.6%). Depressive symptoms were prevalent among 67% of participants. Multivariate analysis indicated that the use of emotion-focused coping strategies, illness perceptions, and several covariates (time elapsed since learning of diagnosis, age, education, and importance of having children in the future) were significant predictors of depressive symptoms. Multivariate analysis including adaptation as the outcome demonstrated that problem-focused coping is the greatest predictor of adaptation, followed by perceived stigma, age, and race. Multivariate analyses with interaction terms indicated that perceived stigma and problem-focused coping both vary by time elapsed since learning of diagnosis. In addition, coping was found to mediate the relationship between illness perceptions, perceived stigma, and coping, and adaptation. This study suggests that this population of adolescents and adults with XXY were well adapted, and it highlights the role of perceived stigma, coping, and age in predicting adaptation. The findings also suggest that individuals with XXY are at increased risk for clinical depression. Factors associated with depressive symptoms among study participants were perceived negative consequences, perceived stigma, and education. Finally, this study contributes to the broader understanding of perceived stigma and adaptation.

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