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Appendix A The Statement of Task with Additional Context THE NATIONAL ACADEMIES NATIONAL ACADEMY OF SCIENCES NATIONAL ACADEMY OF ENGINEERING INSTITUTE OF MEDICINE NATIONAL RESEARCH COUNCIL DIVISION ON EARTH AND LIFE STUDIES BOARD ON LIFE SCIENCES PROJECT DESCRIPTION Framework for Developing a New Taxonomy of Disease Statement of Task At the request of the Director’s Office of NIH, an ad hoc Committee of the National Research Council will explore the feasibility and need, and develop a potential framework, for creating a “New Taxonomy” of human diseases based on molecular biology. As part of its deliberations, the Committee will host a large two-day workshop that convenes diverse experts in both basic and clinical disease biology to address the feasibility, need, scope, impact, and consequences of defining this New Taxonomy. The workshop participants will also consider the essential elements of the framework by addressing topics that include, but are not limited to: • Compiling the huge diversity of extant data from molecular studies of human disease to assess what is known, identify gaps, and recommend priorities to fill these gaps. • Developing effective and acceptable mechanisms and policies for se- lection, collection, storage, and management of data, as well as means to provide access to and interpret these data. • Defining the roles and interfaces among the stakeholder communities— public and private funders, data contributors, clinicians, patients, in - dustry, and others. 93

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94 APPENDIX A • Considering how to address the many ethical concerns that are likely to arise in the wake of such a program. The Committee will also consider recommending a small number of case studies that might be used as an initial test for the framework. The ad hoc Committee will use the workshop results in its deliberations as it develops recommendations for a framework in a consensus report. The report may form a basis for government and other research funding organiza - tions regarding molecular studies of human disease. The report will not, how - ever, include recommendations related to funding, government organization, or policy issues. Project Context and Issues: The ability to sequence genomes and transcriptomes rapidly and cheaply is producing major advances in molecular genetics. These advances, in turn, pro - vide new tools for defining diseases by their biological mechanisms. The recog - nition and classification of human diseases are fundamental for the practice of medicine, with accurate diagnoses essential for successful treatment. Although diagnostics have begun to embrace the identification and measurement of mo - lecular disease mechanisms, the classification of disease is still largely based on phenotypic factors, or “signs and symptoms.” Assigning a name to a disease is not necessarily accompanied by a clear understanding of its biochemical causes or of the variations in disease manifestations among patients. Remarkable advances in molecular biology have brought biomedical re - search to an “inflection point,” putting the life sciences at the cusp of delivering dramatic improvements in understanding disease to reap the health benefits that formed the rationale for the Human Genome Project. In 2010, we are now poised to use genomics, proteomics, metabolomics, systems analyses, and other derivatives of molecular biology to: • understand disease based on biochemical mechanisms rather than clinical appearances or phenotypes; • transform disease diagnosis; • develop improved screening for, and management of, risk factors for disease; • discover new drugs and reduce side effects by predicting individual responses based on genetic factors; and • transform the practice of clinical medicine. For these benefits to be realized, however, much work remains to be done. Some in the life sciences community are calling for the launch of a wide-ranging new program to use molecular and systems approaches to build a new “tax - onomy” of human diseases. The feasibility of such a program, including the

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95 APPENDIX A readiness of the technology, willingness of the scientific community to pursue it, and compelling nature of the gaps it would fill, remains to be explored. Em - barking on such a program would require that existing data linking molecular, environmental, and experiential factors to disease states be surveyed and com - piled, and that gaps in these data be identified and priorities set and acted upon to fill these gaps. In addition, effective and acceptable mechanisms and policies for selection, collection, storage, and management of data, as well as percep - tion, construction, and manipulation network relationships within the data, are clearly needed. Criteria must also be established for providing or denying access to and interpretation of data. Roles of and interfaces among the involved communities (public and private funders, data contributors, clinicians, patients, industry, and others) would need to be explored and defined. And the many ethical considerations surrounding such a program would need to be addressed. Each of these areas is technically complex. Some are also vast, e.g., the compilation of current knowledge and the scientific research efforts needed to fill gaps. Undertaking such a program would clearly require the participation and collaboration of many government and private entities over a considerable period of time. To ensure that progress is being made, goals and milestones against which program success can be measured would need to be developed. The NIH seeks the advice of an expert NRC Committee charged with explor- explor- ing the feasibility and need, and developing a framework, for a potential “New Taxonomy of Disease” effort. The Committee would leverage the expertise of additional scientists, clinicians, and others by holding a large (approximately 100 participants) workshop to obtain ideas from the broader scientific and medical communities. Following the workshop, the Committee will use the workshop results to distill its findings and recommendations for the structure and components of a framework into a consensus report to NIH. The Commit - tee will also consider recommending a small number of case studies that might be used as an initial test for the framework.

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