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P4 Medicine on the Horizon future of medicine, continued from page 1 paradigm that incorporates analysis of vast data inputs to consider the complexity of biological systems and their responses to wellness and disease, in aggregate and <strong>for</strong> individual patients. “Medicine has become an in<strong>for</strong>mational science, and my view of medicine is one that is in<strong>for</strong>mation-based and data-driven,” he explained. “In the future, each patient will be surrounded by a virtual cloud of billions of data points and the question will be, how can we use that complexity to find parameters <strong>for</strong> wellness that are unique to each individual?” Hood is co-founder of the Institute <strong>for</strong> Systems Biology (ISB), a research institute dedicated to the integration of technology, computation, biology, and medicine. Hood believes the P4 approach—predictive, personalized, preventive and participatory medicine—will drive the health- care system in the 21st Century, and he sees it as nothing short of revolutionary. “Many people don’t understand technology, but it’s what drives all of science. That’s why the advance of science is often thought of as being terribly incremental—and that’s true when technology isn’t changing too rapidly. But today it’s changing enormously quickly. We’re seeing exponentially higher throughput, more accurate data, and costs being driven down,” he explained. A Mere Drop of Blood Hood envisions that within 10 years, most everyone will have had a complete genomics analysis run at a reasonable cost. This in<strong>for</strong>mation will enable a data mining of sorts that will provide a clear picture of health and disease <strong>for</strong> each individual, effectively shifting the focus of medicine from disease to wellness. On top of that, he sees a time when biannually, patients will provide a one-drop blood sample from which about 2,500 protein measurements will be taken, and these also will be used to assess health as opposed to disease <strong>for</strong> 50 major organ systems. If this seems pretty far removed from today, Hood pointed to several projects ISB has underway that are planting seeds to achieve the P4 medicine model. Scientists at ISB recently completed an entire genome sequence <strong>for</strong> a family of four. This ef<strong>for</strong>t identified 230,000 new rare variants within the family and enabled investigators to create a precise recombinant map. “That gave us exactly the haplotypes of the parental chromosomal regions that conjoin together to make up the chromosomes of the children,” he explained. “What was fascinating is that about 70 percent of these recombinations fell in hotspots of recombination, and that has important implications <strong>for</strong> genetics.” ISB researchers also have been studying prion disease in mice, analyzing its behavior as a network from a state of wellness through neuronal degeneration. The first set of analyses involved nearly 50 million data points. “This required creation of entirely new computational and integrative methods <strong>for</strong> dealing with a significant amount of data,” said Hood. The researchers also employed subtractive biological analyses to address “absolutely overwhelming” signal-to-noise problems. Hood believes this type of analysis can help investigators understand how biological networks become perturbed, and to eventually develop interventions to modify disease progression in humans. In addition, ISB scientists have a goal to create within the next few years mass spectrometry assays <strong>for</strong> about 20,000 human proteins. Already they have developed such assays <strong>for</strong> 97% of yeast proteins, according to Hood. Overcoming the Skeptics ISB is beginning to tie the themes of its work together in a pilot project with Ohio State University Medical Center. “With lung cancer we plan to develop very early diagnostic markers and be able to stratify patients into different types so we can match them with appropriate drugs,” Hood explained. “In wellness, we hope to develop molecular and cellular parameters <strong>for</strong> evaluating each individual’s wellness status and use that to optimize behaviors to achieve greater wellness.” This ef<strong>for</strong>t will be essential to moving the P4 medicine paradigm <strong>for</strong>ward, according to Hood. “Scientists are trained to be inherently skeptical, cynical, and conservative, and they don’t feel com<strong>for</strong>table with new ideas, so you just have to overwhelm leroy hood, md, phd, says the emergence of p4 medicine will revolutionize the healthcare system in the 21st century. James Thomson, vmd, phd, presented his research on human-produced pluripotent stem cells and potential medical applications. them with success,” he observed. As P4 medicine gains ground—an eventuality about which Hood is utterly confident—it will trans<strong>for</strong>m the entire healthcare landscape. “This will <strong>for</strong>ce every sector of healthcare to rewrite business plans in major ways,” he predicts. Laboratories will be part of this sweeping change. “My own feeling is that specialty diagnostic companies will emerge that have finetuned technologies that enable us to do what can’t be done today. There’ll be real opportunity <strong>for</strong> economic advances <strong>for</strong> these new companies,” said Hood. Stem Cell Therapy Coming of Age Pioneering stem cell researcher Thomson gave a compelling presentation about developments in and the promise of stem cell research in trans<strong>for</strong>ming medicine. The first scientist to isolate and culture an embryonic stem (ES) cell line in 1998, Thomson is the John D. MacArthur professor and director of regenerative biology at the Morgridge Institute <strong>for</strong> Research at the University of Wisconsin. In 2007, his lab made history again by deriving eight new cell lines from human skin cells aided by four transcription factors. Like ES cells, these induced pluripotent stem (iPS) cells are capable of differentiating into any of the 220 cell types in the human body and proliferating indefinitely. However, they do not carry the same ethical, legal, or political controversies that surround ES cells. A Profound Change The remarkable achievement of creating ES and iPS cell lines will open wide the doors of scientific discovery in ways that can’t even be <strong>for</strong>eseen right now, Thomson predicted. A comparable situation existed with the advent of recombinant DNA research in the 1970s. “Everyone knew that DNA was really important, but no one got the details right. We thought gene therapy was going to be easy, and we’re 30 to 40 years into it now and there’s no gene therapy to speak of. It profoundly changed everything, but the specifics were not accurate,” he observed. Thomson also suggested that the breakthroughs made by his and other labs would pick up the pace of discovery in the field. “A relatively small number of genes allowed us to do this, and it’s clear the work has implications beyond making the functional equivalent of human embryonic stem cells,” he indicated. “My sense is that things are going to move <strong>for</strong>ward even faster now.” Many Challenges Ahead Even as the field advances rapidly, Thomson cautioned that a number of challenges still need to be worked out <strong>for</strong> both ES and iPS cell-based transplantation therapy. For example, researchers need to be able to reliably make the type of cells of interest, such as neurons or hematopoietic cells. Concerns exist as well about whether stem cells introduced into a patient’s body can provoke an immune rejection response. In 2009, Thomson’s lab tackled a key safety concern associated with viral vectors, the method he used initially to deliver genes into skin cells in order to make iPS cells. The concern was that iPS cells created by this approach carried residual genetic material that could have triggered mutations in the induced cells. However, Thomson successfully used plasmids to introduce genetic material into the target cells. These circles of DNA that can replicate, but lack the complexity and efficiency of chromosomal DNA, can be engineered to introduce genetic material into cells and then be subsequently eliminated, thereby creating a line of iPS cells free of exotic genetic material. “We believe this was the first time human-induced pluripotent stem cells have been created that are completely free of vector and transgene sequences,” said Thomson. “It’s another important step along the way toward developing cells in sufficient quantity and quality to explore the possibility of human therapeutic use.” Edging Towards Everyday Use As Thomson’s lab continues its groundbreaking work, he looks <strong>for</strong>ward to the practical application of stem cell therapy in areas such as drug discovery and regenerative medicine. The hope is that stem cells can improve the drug development process by helping researchers identify candidate compounds that are likely to be effective in specific patients. “If you already know See future of medicine, continued on page 4 CliniCal laboratory news <strong>oCtoBeR</strong> <strong>2010</strong> 3
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