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.
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.