Table 1

Precision medicine approaches and pilot studies.

Study typeDescriptionReference
Basic discoveryAn experimental strategy has been devised that combines genetic, proteomic, structural, and computational approaches to proceed from patient-based systems data, such as genome-wide association studies, to functional complexes, to pathways, and ultimately to predictive networks. The approach reveals disease mechanisms and has implications for therapeutic decisions and drug development.(7)
Clinical discoveryBRCA pathway mutations, known to be causative in certain breast cancers, have also been implicated in ovarian and pancreatic cancers thought previously to be unrelated. This common mechanism predicted correctly that therapies for BRCA pathway–defective breast cancers, such as poly (adenosine-diphosphate–ribose) polymerase (PARP) inhibitors, could be efficacious for other cancers with related defects.(8, 9)
Social and behavioral discoveryAnalysis of genomic data linked to clinical records of a diverse cohort of >100,000 Californians has revealed genomic variants linked to prostate cancer, diabetes, and other diseases; uncovered molecular features related to aging; and provided insight into the relation between genetic ancestry and social categories of racial and ethnic identity.(10)
Disease preventionHealth eHeart is a large study that seeks to harness data from smart phones, biosensors, and other wearable devices in order to collect longitudinal blood pressure, activity, sleep, diet, and other data on 1 million subjects to define patterns that will be informative and predictive and motivate behavioral changes so as to prevent cardiovascular disease.www.health-eheartstudy.org