August 20, 2015

Pharmacogenomics: The Future of Prescribing Could Reside in Your DNA

By Jeff Briggs

In the era of modern medicine, the standard of health care is constantly improving. But what happens when a patient does not respond to standard treatment? Why does chemotherapy work effectively against cancer in some patients, but not in others? Why do some patients experience adverse reactions to medication?

The key to unlocking these mysteries may lie in your DNA, and in the groundbreaking field of pharmacogenomics. Your genetic makeup is a big factor in how your body metabolizes and responds to drugs. By accounting for the complexities of an individual patient’s genome, doctors can maximize the effectiveness of a drug. They can treat patients as they should be treated: like individuals.

Pioneering Genetic Discoveries in Pharmacology

Pharmacologist Richard Weinshilboum, M.D., the Mary Lou and John H. Dasburg Professor in Cancer Genomics Research at Mayo Clinic, has been in intrigued by the potential of genetic research in pharmacology for more than 40 year, when he began painstaking biochemistry techniques in his Pharmacogenomics Laboratory.

Dr. Richard Weinshilboum

Dr. Richard Weinshilboum

As Dr. Weinshilboum's research team studied enzymes involved in eliminating neurotransmitters, they discovered a related enzyme, known as TPMT, that eliminated a particular type of toxicity from the body after drug therapy for certain leukemia patients. Because one in 300 children with leukemia had adverse reactions to the drug therapy, Dr. Weinshilboum was curious whether variations in enzyme levels based on each child's genes played a role in the side effects.

"We wondered if there was a genetic inability to break down the drug, essentially causing an overdose in kids who couldn't metabolize it," he recalls.

The experiments conducted in Dr. Weinshilboum's lab during the late 1970s and early '80s were something of a novelty. According to Dr. Weinshilboum, only two or three other laboratories around the world were exploring the connection between drug metabolism and genes.

When researchers discovered that having an undetectable level of TPMT meant a life-threatening reaction for certain pediatric patients, the discovery became a useful laboratory test. In the early 1990s, Mayo Clinic began measuring the TPMT levels of children before starting leukemia treatment to help prevent adverse reactions.

From this first discovery, Dr. Weinshilboum has dedicated his career to finding the right drug, at the right dose, at the right time. Long before we used terms like individualized or precision medicine, he treated each patient as an individual, knowing that a person’s DNA influenced how he or she might react to a given drug.

Panel 7Pharmacogenomics at Individualizing Medicine Conference 2015

Now Dr. Weinshilboum shares this wealth of knowledge and experience with attendees of the Individualizing Medicine Conference 2015: From Promise to Practice, to be held in Rochester, Minn., from September 20–23. Hosted by the Mayo Clinic Center for Individualized Medicine, the fourth annual conference on genomics medicine features several presentations on how pharmacogenomics is changing the future of medicine.

The director of the Pharmacogenomics program in the Center for Individualized Medicine,  Dr. Weinshilboum leads a research team dedicated to developing sophisticated cell-based genomic techniques in order to determine the mechanisms responsible for variation in drug response phenotypes. His team investigates life-threatening adverse drug reactions in childhood leukemia patients, and drug-related toxicity or failure to respond to treatment in breast cancer patients.

Dr. Weinshilboum will moderate the session “Pharmacogenomics: Discovery to Implementation” on Monday, September 21.

Pharmacogenomics-focused Presentations During the Conference

mss_0001361799Monday, September 21

  • Concurrent Session 1C: Pharmacogenomics: Discovery to Implementation
  • Concurrent Session 2D: Pharmacogenomics Implementation at the Bedside: What Works, What Doesn’t?

Wednesday, September 23

  • Focus Session 6: Metabolomics-informed Pharmacogenomics

For a complete schedule, visit the conference website.

For a complete list of speakers, visit the conference speakers.

New this year, the Center for Individualized Medicine offers a patient and public symposium on September 20, featuring expert talks and exhibits in pharmacogenomics, ethics, microbiome, cancer, and other areas where precision medicine is impacting health care.

If you’re not already signed up for the Individualizing Medicine Conference 2015: From Promise to Practice, register now!

Don’t miss the chatter on Twitter. Follow @MayoClinicCIM or #CIMCon15.


Tags: center for individualized medicine, Dr. Richard Weinshilboum, genomic medicine, individualized medicine, Individualized Medicine Conference 2015, M.D., pharmacogenomics, Precision Medicine, Richard Weinshilboum, Uncategorized

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