ABSTRACT
The signi˜cant accomplishments of the Human Genome Project have ushered in the genomic era. Among the insights gained have been the realization that genes underlie virtually every aspect of health and disease, that our functional abilities are directly related to the information in our genetic makeup (genome), and that changes in our genes inŽuence our function and our “goodness-of-˜t” with the environment in which we live. These are fundamental biological principles that apply to all living organisms. Their integration into our thinking is leading to signi˜cant changes in the way scientists and clinicians approach health and disease. There is a growing quest for understanding the mechanisms that underlie dysfunction and its manifestation as disease-what are the underlying bases for a patient’s symptoms so that healthcare professionals can address disease at its root cause? Which genes are involved? Which proteins do these genes encode? Which gene variants are present in this individual’s genome, and how do they alter normal function to cause dysfunction and disease? Clarity with respect to the underlying mechanisms provides clinicians with a target for direct interventions that promise to improve disease management. Additionally, for the ˜rst time, clinicians have a conceptual framework within which to develop effective approaches to disease prevention, not just enhanced management of manifest disease.
