Women's Health: Genetic Variation in Complex Traits

Abstract

Personalized medicine, the individualization of clinical care based, in part, upon an individual’s 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.