Personalized medicine, the individualization of clinical care based, in part, upon an individuals genetic background, can be thought of as a three step process: scientific discovery, validation, and clinical implementation. Women and individuals of diverse ethnic/racial backgrounds are at risk of widening health disparities unless additional emphasis is placed upon these subjects for future research. Genetic association studies were used to identify genetic variants that contribute to the timing of the reproductive lifespan in women, endometrial cancer, and elevated serum thyroid stimulating hormone levels. A rapid evidence review was performed to validate previously reported variants associated with hypothyroidism and consider the analytic evidence that genetic testing of asymptomatic adult women leads to improved health outcomes. The ethical, legal, and social impacts of personalized medicine implementation were evaluated from the perspectives of both the health care system and the general public.

This study developed a food preference survey to estimate adolescents willingness to consume energy-dense foods and sugar-sweetened beverages. Five focus group interviews with 13 to 19 year-old students were conducted, and items representing energy-dense foods, energy-dilute foods, sweetened beverages, and unsweetened beverages were determined (5 per category). The final survey was administered to 234 students. Willingness to consume items was assessed using a 7-point Likert Scale (1, representing Extremely Unwilling to 7, indicating Extremely Willing). Exploratory Factor Analysis using Principal Axis factoring with a Promax (oblique) rotation revealed two factors. Factor one included French fries, Kool-Aid, glazed donuts, cookies, lemonade, and pizza (23.9% of the variance). Factor 2 included nuts or peanut butter, low-fat or fat-free yogurt, grapes, and bananas (13.8% of the variance). Cronbachs alpha was 0.770 for factor 1 and 0.664 for factor 2.

Alzheimers Disease is an irreversible, degenerative disease of the brain that accounts for a majority of dementia cases each year, in both the general population and in patients with Down Syndrome. The advancement of in vivo imaging modalities that detect the neuropathologies associated with both Down Syndrome and Alzheimers Disease present new opportunities to explore these diseases in living human subjects. Imaging biomarkers not only permit earlier, more accurate patient diagnosis, but quantitative, neuropathology-based traits derived from imaging modalities offer increased power to detect associations with large-scale genetic data. This field of investigation has been termed imaging genetics. Imaging genetics studies aim to identify novel risk genes and elucidate gene function and novel mechanisms of disease pathology and etiology. In this dissertation, I have conducted imaging genetics studies of the neuropathologies of Alzheimers Disease and Down Syndrome in order to increase our understanding of the genetic etiology underlying these pathologies. Furthermore, new biomarkers of these pathologies are still needed. Thus, a magnetic resonance imaging sequence which has been shown to detect amyloid beta plaque in mice is explored in human studies in this dissertation. This work contributes novel findings to the body of research aimed at early identification of patients at risk of Alzheimers Disease.

Typescript. / Thesis (Ph. D.)--University of Hawaii, 1969. / Bibliography [142]-147. / ix, 147 l illus

Thesis (MSoSc(AppliedSocialResearch))--University of South Australia, 2003.

Thesis (M. P. H.)--University of Hong Kong, 2007.

Thesis (M. P. H.)--University of Hong Kong, 2007. / Also available in print.

Diss. Stockholm : Handelshögsk., 2001.

Diss. (sammanfattning) Stockholm : Karol. inst. / Härtill 8 uppsatser.

Diss. (sammanfattning) Stockholm : Karol. inst. / Härtill 7 uppsatser.