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Pages 1-8

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From page 1...
... The Committee agreed with this perspective and, indeed, came to see the challenge of develop ing a New Taxonomy of Disease as just one element, albeit an important one, in a truly historic set of health-related challenges and opportunities associated with the rise of data-intensive biology and rapidly expanding knowledge of the mechanisms of fundamental biological processes. Hence, many of the implica tions of the Committee's findings and recommendations ramify far beyond the science of disease classification and have substantial implications for nearly all stakeholders in the vast enterprise of biomedical research and patient care.
From page 2...
... The Com mittee envisions these data repositories as essential infrastructure, necessary both for creating the New Taxonomy and, more broadly, for integrating basic biological knowledge with medical histories and health outcomes of individual patients. The Committee believes that building this infrastructure -- the Information Commons and Knowledge Network -- is a grand challenge that, if met, would both modernize the ways in which biomedical research is conducted and, over time, lead to dramatically improved patient care (see Figure S-1)
From page 3...
... mation and concepts from biomedical research cannot be optimally incorporated into the disease taxonomy of today, opportunities to define diseases more precisely and to inform health-care decisions are being missed. Many disease subtypes with distinct molecular causes are still classified as one disease and, conversely, multiple different diseases share a common molecular cause.
From page 4...
... Widespread incorporation of electronic medical records into the health-care system will make it possible to conduct such research at "point-of-care" in conjunction with the routine delivery of medical services. Moreover, only if the linked phenotypic data is acquired in the ordinary course of clinical care is it likely to be economically feasible to characterize a sufficient number of patients and ultimately to create a self-sustaining system (i.e., one in which the costs of gathering molecular data on individual patients can be medically justified in cost-benefit terms)
From page 5...
... Best practices defined by the pilot studies should then be expanded in scope and scale to produce an Information Commons and Knowledge Network that are adequately powered to support a New Taxonomy. As this process evolves, there should be ongoing assessment of the extent to which these new informational resources actually contribute to improved health outcomes and to more cost-effective delivery of health care.
From page 6...
... of each stage of the process by which the Committee envisions creating a New Taxonomy. Most fundamentally, the molecular and phenotypic data on individual patients that populate the Information Commons must be broadly accessible so that a wide diversity of researchers can mine them for specific purposes and explore alternate ways of deriving Knowledge Networks and disease taxonomies from them.
From page 7...
... onomy incorporating molecular data could become self-sustaining by accelerating delivery of better health through more accurate diagnosis and more effective and cost-efficient treatments. However, to cover initial costs associated with collecting and integrating data for the In formation Commons, incentives should be developed that encourage public–private partnerships involving government, drug developers, regulators, advocacy groups, and payers.


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