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Pharmacogenetics Marshfield’s Clinical Play for Personalized Medicine


Wisconsin’s official website lists a bevy of attractions –– idyllic towns, thriving cities, and affordable living, to name a few. But government marketers seem to have missed what may be the state’s most notable resource: the Marshfield Clinic, a healthcare system making huge inroads on the personalized medicine front.

“Wisconsin is unique in that people don’t move around a lot, so we’ve got years of data,” says Cathy McCarty, director of Marshfield’s Center for Human Genetics, who notes that such information is ideal for the large-scale, population-based pharmacogenetic and genetic epidemiology studies the clinic has initiated.

The Marshfield Clinic is one of the nation’s largest health networks, comprised of 41 regional medical centers dotting the landscape of central and northern Wisconsin. Patient care and clinical research are supported via an electronic medical system with records that stretch back 20 years, McCarty says. The records themselves contain de-identified clinical data, but can be updated with new information throughout individual clinical histories.

The architecture of the electronic system is fairly unremarkable, but underlying the medical informatics process is the principle that “nobody should be able to put all of the pieces together,” says Justin Starren, who recently took on the post of director of the clinic’s new Biomedical Informatics Research Center after serving as associate professor of biomedical informatics and radiology at Columbia University. Investigators on the genetics projects are not given access to the clinical system, Starren says, so researchers and physicians are essentially “transferring information via a key that’s held by a third person.”

Starting in 2002, Marshfield began recruiting adult patients from 19 zip codes around the state for its population-based studies. Community support is significant, McCarty says, and with 20,000 patients participating, Marshfield has been able to generate results on several research projects. On the pharmacogenetics front, the center is looking into the genetic bases of response to lipid-lowering medications, beta blockers, and Cox2 inhibitors. In terms of genetic and environmental influences on disease, Marshfield researchers are looking at hypertensive heart disease, osteoporosis, and Alzheimer’s disease.

Results from the Alzheimer’s study have already been submitted to the British Medical Journal. The study examined the development of Alzheimer’s disease in terms of four genes and their interplay with three environmental factors –– statins, smoking, and weight. McCarty says the study found a gene-environment interaction that researchers believe explains up to a third of all Alzheimer’s disease found in Marshfield’s population.

Marshfield isn’t miserly when it comes to data sharing, and its rich clinical and genetic research reserves are open for other institutions to mine. “There’s just so much potential with this,” McCarty says, which “is why we’re trying to encourage collaborations with other investigators as well.” Several collaborators are on board already. One University of Michigan researcher is using data from the clinic’s hypertensive heart disease study to validate gene leads identified in animal models, while the lipid medication study is part of a multi-institutional research program funded by the NIH.

— Jennifer Crebs


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