ABSTRACT

MOUSHENG XU, KELAN G. TANTISIRA, ANN WU, AUGUSTO A. LITONJUA, JEN-HWA CHU, BLANCA E. HIMES, AMY DAMASK, AND SCOTT T. WEISS

8.1 BACKGROUND

Personalized medicine, the ability to predict an individual's predisposition to disease and response to therapy with genetic and phenotypic characteristics, promises to deliver more efficient health outcomes [1-4]. As a field, personalized medicine faces multiple issues when trying to predict complex diseases such as cardiovascular diseases, cancer, and asthma. This is largely due to the fact that no single genotypic or phenotypic characteristic can explain more than a small portion of any complex disease. Instead, complex diseases are influenced by multiple genetic factors and environmental exposures. For instance, the height of a person is considered to be strongly heritable, but the top 20 single nucleotide polymorphisms (SNPs)

chosen by p value, explain only ~2-3% of the variability in adult height [5]. In addition to the multitude of factors influencing complex traits, the genetic and environmental factors interact with each other adding to the complexity.