Ricki Lewis, PhD

March 25, 2013

A patient shows the physician her annotated genome information on a handheld device. Or a physician may already have the patient’s DNA in a file-cabinet-sized instrument from a “human genome interpretation company,” whose software identifies gene variant patterns that might inform a diagnosis or treatment plan.

These 2 gadgets and their capabilities already exist, and by the time today’s medical students are practicing, seeking interpretation of sequences of A, C, T, and G may be if not routine, at least not uncommon.

Healthcare consumers are increasingly savvy regarding genetic technology. “A patient can spit in a tube and send it to a variety of companies and get information on genetic markers that predict risks for common diseases,” said Reed Pyeritz, MD, PhD, Professor of Medicine at the Perelman Center for Advanced Medicine at the University of Pennsylvania, Philadelphia.

“Patients are clamoring to know whether sequencing their DNA can shed light on their condition. Every physician of the future will have to know how to respond to this, and it is essential that they receive some training in this area,” added Michael Snyder, PhD, Chair of the Department of Genetics at Stanford University School of Medicine, Stanford, California, and Director of the Stanford Center for Genomics and Personalized Medicine.

The types of information coming from direct-to-consumer companies don’t correspond to the single-gene (Mendelian) cases and examples that are still entrenched in medical school curricula. But several new programs are confronting the disconnect between what patients want to know and what physicians can tell them about the human genome.


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