This essay is about Defining Disease in the Genomics Era.

The human genome sequence will dramatically alter how we define, prevent, and treat disease. As more and more genetic variations among individuals are discovered, there will be a rush to label many of these variations as disease-associated. We need to define the term disease so that it incorporates our expanding genetic knowledge, taking into account the possible risks and adverse consequences associated with certain genetic variations, while acknowledging that a definition of disease cannot be …

…will be interesting but inconsequential polymorphisms. Until a mutation is shown to demonstrate a defined risk of developing adverse consequences, individuals carrying that mutation should not be considered diseased. Defining adverse consequences and determining the risk of myriad small genetic variations is a mammoth task. But it is only with this information that clinicians can accurately define the term disease in the genomics era, and in so doing, be able to advise their patients appropriately.