Author Affiliations: Center for Genomics and Healthcare Equality and Departments of Medical History and Ethics and Medicine (Dr Burke) and Cardiovascular Health Research Unit, Departments of Medicine, Epidemiology, and Health Service and the Health Service Center for Health Studies, Group Health (Dr Psaty), University of Washington, Seattle.
Enthusiastic predictions about personalized medicine have surrounded the sequencing of the human genome. As commonly used, the term predicts a leap forward in disease prevention and drug treatment, based on knowledge of individual genetic susceptibilities.1,2 According to Guttmacher and colleagues, “genomics-based knowledge and tools promise the ability to approach each patient as the biological individual he or she is, thereby radically changing our paradigms and improving efficacy.”3 Some emerging tests support this promise: mutations in the BRCA1 and BRCA2 genes identify women who have a high lifetime risk for breast and ovarian cancer4 and who are candidates for breast magnetic resonance imaging screening5 or prophylactic surgery.6 Similarly, many pharmacogenetic tests are under development as a means to improve the safety and efficacy of drug treatment.7 In each case, the useful application of a genetic test is linked to an intervention that improves health outcomes.
Burke W, Psaty BM. Personalized Medicine in the Era of Genomics. JAMA. 2007;298(14):1682–1684. doi:10.1001/jama.298.14.1682