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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.
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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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