Genomic Analysis in Clinical Medicine: Too much information or not enough?

The convergence of robust analytic genomic technology, information technology and economic trends have resulted in an unparalleled ability to analyze the individual’s genome. Indeed, whole genome sequencing of the individual will likely soon be a practical and affordable reality within reach of patients, physicians and the general public. Such information will conceivably greatly advance our fundamental understanding of disease (both common and rare), the development of drugs, and may herald the advent of “individualized medicine”.

Yet profound challenges exist with regard to implementing this coming deluge of data. It is likely that much if not most genetic analyses of individuals will be pursued outside the traditional confines of medicine and the Academy. The individual will routinely learn of their risk for a plethora of disorders and at times such information will be of medical benefit. However, the gap between our understanding of disease and disease risk versus the availability of effective interventions will inevitably widen. Moreover, the complexity of this information will call for a genetic and statistical sophistication that is not currently possessed by either medical practitioners or the public. Finally, the advent of readily available detailed genetic information of individuals raises complex issues ranging from the philosophical implications of such information to privacy and patent law. Dr. Evans will discuss these issues.