Op-Ed: Personalized Medicine in the Era of Genomics

October 10, 2007

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.

Nevertheless, claims of a new medical paradigm based on genomics merit careful scrutiny. The exhortation to prepare for a “genomics revolution”8 often assumes that genetic risk is different in kind from other health risks. Experienced clinicians might reasonably question this assumption and also might debate how much genetic testing is likely to contribute to the medical care of individual patients. Although genomic research will certainly yield translational benefits, a realistic appraisal suggests that genomics will make only modest contributions to personalized medicine as it is traditionally practiced. (JAMA)