Pairing genetic information with clinical information in electronic health records is paving the way for a revolution in health care, pioneers in the field say. Ultimately, clinicians will be able to much more precisely pinpoint disease treatments that will yield the best results for a patient. And business intelligence and data mining applications are playing key roles in the early research efforts.
Here's how John Quackenbush, a Harvard University professor of computational biology and bioinformatics, describes what's at the end of the rainbow: "The goal is to try to use existing clinical information and new types of assays [tests] to better direct therapy and understand which patients are likely to respond to different therapeutic protocols. Then we can get patients involved in a protocol as early as possible with the greatest likelihood of success."
Quackenbush, who heads a personalized medicine project at Dana-Farber Cancer Institute in Boston, predicts the price of determining a genome, the entirety of an individual's hereditary information, will decline from the current $10,000 to about $1,000 within five years. "Genome sequencing will then become a regular part of clinical care," he says.
"In 10 years, we'll have a core of genetic variants that are a routine part of most people's electronic records," predicts Dan Roden, M.D., assistant vice chancellor for personalized medicine at Vanderbilt University Medical Center in Nashville. "Fast forward 30 years from now. We'll have a system where everybody's genome is part of their record." The genetic information, paired with electronic health records, will enable clinicians to, for example, target therapy for a diabetic to minimize the risk of an amputation, he says.
Roden also offers the example of potentially altering the current practice of prescribing Plavix or a similar blood clot prevention drug to all patients with stents to help avoid a coronary event, such as a heart attack. Researchers have determined that only 20% of stent patients who get a placebo instead of Plavix develop a coronary event within a year. "So by giving Plavix to all, we're wasting money on 80% of patients," he notes. "If we could use personalized medicine to identify the 20%, we could save a lot."
To achieve such results, however, will require researchers at numerous medical centers to work together, sharing genetic information and electronic health records, he contends. Vanderbilt and many other medical centers are doing early research on their own and taking small steps toward collaborative efforts for broader studies.
Today, most pioneering personalized medicine research involves gathering DNA samples and pairing them with electronic health records for the patients involved, but stripping all the information of personal identifiers. The data is then being used to do big-picture research on treatments for types of diseases, rather than creating patient-specific treatment plans.
But researchers are hopeful that today's aggregate research will lead to tomorrow's truly personalized medicine, where an individual's genetic information enables clinicians to pinpoint effective treatments, case by case.
"Personalized medicine is more than a bunch of genes in your record," Roden contends. "It includes more participation by the consumer in their own health care," he adds. And it requires that clinicians investigate the patient's social circumstances to determine whether they can actually afford the treatment recommended or need help addressing the cost.
Getting the Ball Rolling
To get rolling on personalized medicine research, Dana-Farber Cancer Institute leveraged a $1 million grant from Oracle Corp., Redwood Shores, Calif., to create a data mart to store de-identified information from multiple clinical databases. It's using Web-based business intelligence software from Inforsense, a unit of the British firm IDBS, to enable researchers to make their own queries without the aid of a programmer, Quackenbush explains.
The initial project involves collecting genetic information from patients with multiple myeloma, a type of cancer, pairing it with clinical data and attempting to pinpoint the therapies that yield the best results for specific types of patients. The cancer center is reaching out to other provider organizations across the globe, initially in France, to build a broad database to support the project.
Early this year, Dana-Farber plans to launch an ambitious effort to collect genetic information on virtually all of its cancer patients as a routine part of their assessments, Quackenbush says. "This will give physicians additional information that they can use to help direct therapy," he says. For example, if one gene carries a mutation, "we already know certain therapies simply won't work for you. We'll direct patients to the therapies that, based on our clinical trials, would be most useful."
Personalized medicine likely will make its biggest initial inroads in the area of cancer, Quackenbush predicts, because patients are motivated to support research. "Patients are very willing to sign consent forms enabling us to use tissues for research."
Quackenbush isn't sure whether, over the long haul, genetic information will be stored in a central database or within an individual patient's electronic record. "The ability of EHRs to cope with new types of information is lagging far behind our development of technologies that generate the data," he says. "So it's a research project for us."
The Role of EHRs
Vanderbilt University Medical Center is one of several organizations participating in a national project, called the eMERGE Network, that's attempting to determine the role EHRs can play in personalized medicine for patients with certain chronic conditions. For example, Vanderbilt is using EHRs, paired with genetic data, to research how genetic variations affect the electrical activity of the heart. Meanwhile, Marshfield (Wis.) Clinic is studying how genetics affects development of cataracts as well as the level of HDL cholesterol.
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