10,000 people help answer a basic individualized medicine question
Nearly 1 out of every 3 American adults has high blood pressure. About 70 percent of them take medication for their condition, but only half have it under control. Why? The answer gets to the heart of individualized medicine: Because each person has a unique genetic makeup, everyone responds differently to drugs.
In recent years, individualized medicine, sometimes called precision medicine, has made headlines by predicting the possibility an individual may develop a specific disease — think BRCA1 and BRCA2 genetic mutations linked to breast and ovarian cancers.
But that is just the tip of the genomic iceberg, says Richard Weinshilboum, M.D., director of the Mayo Clinic Center for Individualized Medicine’s Pharmacogenomics Program and the Mary Lou and John H. Dasburg Professor of Cancer Genomics.
“When you look at the clinical application of genomics, everyone thinks of cancer — and this is appropriate, because cancer is a genomic disease,” Dr. Weinshilboum says. “However, the aspect of clinical genomics that will affect everyone everywhere is pharmacogenomics,” or how an individual’s genetic makeup influences the body’s response to medications.
How common are these drug-related genomic variations? A Mayo Clinic study found that 99 percent of participants have a “clinically actionable” genetic variant related to just five genes that affect drug response. This means virtually every participant, depending on future health needs, may be prescribed a medication or typical dosage that, at best, acts as a placebo and, at worst, may cause serious side effects.
Known as the RIGHT Protocol (short for the Right Drug, Right Dose, Right Time: Using Genomic Data to Individualize Treatment), the study pre-emptively embeds a patient’s genetic information in the electronic health record for future use to see if doing so improves long-term outcomes for both the patient and the health care delivery system at large.
In the RIGHT Protocol’s initial phase, researchers from the Center for Individualized Medicine sequenced DNA from more than 1,000 Mayo Clinic Biobank participants who also receive primary care at Mayo Clinic. They screened for variants in 84 genes known to influence drug response and embedded information for five genes known to have clinical utility in each patient’s electronic health record.
Having developed and tested its systems with the initial 1,000 study participants, researchers are expanding the RIGHT Protocol to 10,000 Mayo Clinic Biobank participants. A sample size of this magnitude will help researchers answer the ultimate, big-picture question: “Does any of this make a difference?” To date, more than 5,000 participants have been consented to the RIGHT 10K study.
“This is a new enough area that no one really knows if you implement pharmacogenomics widely across the United States, will it be cost-effective?” says Jennifer St. Sauver, Ph.D. She is the epidemiologist guiding this aspect of the RIGHT Protocol and works in the center’s Population Health Sciences Program. “Is it worth genotyping all of these patients? Is it possible to integrate into the clinical practice and train clinicians? All of this requires a pretty significant upfront investment in infrastructure.”
But in certain cases, it could pay dividends in better long-term outcomes, she says. For patients with high blood pressure, what if getting the right drug and dose the first time lowered the national incidence of stroke, heart attack, kidney failure and other costly conditions? Prevented emergency room visits and hospitalizations? Reduced missed days of work related to health complications?
“There is a tremendous opportunity here,” says Dr. Weinshilboum. “The benefits of broadly implementing pharmacogenomics for patients and the health care system need to be tested systematically — and that’s what we plan to do.”
Learn more about those collaborating in this research project:
The Right 10K study – read the full story.
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For more information on the Mayo Clinic Center for Individualized Medicineand our recent Individualizing Medicine Conference 2016: Advancing Care Through Genomics, visit our blog, Facebook, LinkedIn or Twitter at @MayoClinicCIM.
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Tags: #Dr. Jennifer St. Sauver, #electronic medical record, #Mayo Clinic Biobank, #Mayo Clinic Robert D. and Patricia E. Kern Center for the Science of Health Care Delivery, #PrecisionMedicine, center for individualized medicine, Dr. Richard Weinshilboum, Genetic Testing, mayo clinic, PGx, pharmacogenomics, RIGHT Protocol, Uncategorized