In the small-town Kansas of Richard Weinshilboum, M.D.’s childhood, most of the local doctor’s patients received the same treatment when they were sick: a placebo and heavy dose of the doctor’s hands placed where it hurt.
Weinshilboum, who directs the Pharmacogenomics Program of the Mayo Center for Individualized Medicine, marveled Thursday at how far personalized medicine has come in his lifetime and how much further we may soon go in identifying the rarest of diseases and pinpointing effective treatments for patients based on their genes.
“This is an opportunity that comes along only once in the history of our species,” said Weinshilboum during his keynote address at a University of Utah-sponsored conference, “Frontiers in Precision Medicine: Exploring Science and Policy Boundaries.”
Hearing Weinshilboum speak, you can’t help but feel we’re on the verge of something big. We know how to sequence genomes, and we know that people with certain gene mutations respond positively to certain medicines when others with the same disease don’t. But how can we bring these scientific breakthroughs out of the lab and to the bedside? It’s the central question Weinshilhoum is working to tackle as a leader in the relatively new field of pharmacogenomics, which studies how a person’s genes affect how they respond to drugs, such as beta blockers.
While cancer is a major target, Weinshilboum points out that individualized medicine has the potential to benefit patients with everything from diabetes to depression.
“The genomic revolution has immediate implications that will basically affect everyone everywhere,” said Weinshilboum, whose work focuses on three clinical goals: maximizing drug efficacy, selecting responsive patients and avoiding adverse drug reactions.
He noted that the most popular childhood cancer, acute lymphoblastic leukemia (ALL), was basically incurable not long ago, but now about 90 percent of children can be cured with drug therapy. Tragically, a few children develop life-threatening adverse drug reactions. Weinshilboum’s research identified a genetic variation in the expression of an enzyme that the body uses to metabolize anti-ALL drugs, and because of this research, there is now a test that children can take to avoid life-threatening toxicity prior to treatment.
It’s one step along the way toward achieving the ambitious goal of uploading everyone’s genomic information into an electronic system that doctors can readily access to identify exactly which medicines and dosages will be effective for each individual. Getting there will require large sums of money and the development of new ways to connect and share data.
Weinshilboum, who has laid significant groundwork in his field over the past few decades and likes to crack jokes about his time living during the Paleolithic era, says one major key in making headway is handing off the problems to young, up-and-coming scientists.
“They don’t pay any attention to the boxes in the organizational chart,” Weinshilboum said. “They just want to solve some science.”