• 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 organizations regarding molecular studies of human disease. The report will not, however, 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, provide new tools for defining diseases by their biological mechanisms. The recognition 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 molecular 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 research 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 “taxonomy” of human diseases. The feasibility of such a program, including the

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