The final report of the workshop, "Functional Consequences of Gene Expression in Health and Disease," held March 31 to April 3, 1997, in San Antonio, Texas, has been published by DOE

At the workshop were experts representing genetics, biochemistry, molecular and cellular biology, physiology, oncology, radiology, and nuclear medicine. They discussed with DOE representatives the expectations and possibilities for helping clinical investigators and physicians use the vast new knowledge coming from the Human Genome Project. A workshop goal was to identify (1) functional units in terms of biochemical circuits within such complex adaptive systems as the human body that can be observed in vivo and described as a consequence of interacting substrates in response to specific gene expression; (2) useful, practical, and economical tools for in vivo observations of metabolic and functional circuits in response to gene expression in individuals; and (3) promising applications of these concepts and tools for medical research and practice. Specific models, radiopharmaceuticals, measurement techniques, instrumentation, and methods for linking recognized phenotypic molecular expressions to individual genotypes are crucial to the task.

Broad discussions clarified individual perceptions of concepts, tools, and applications. These sessions were followed by presentations of experimental data on various aspects of signal transduction and pathways in cellular metabolism. Also covered were the technology of studying the relationship between genes and particular metabolic reactions and phenomena in specific organs, and respective modeling and data interpretation. In this context, genotype and phenotype linkage as active in both directions was reemphasized. Immediate research opportunities exist for studying various specific metabolic reaction circuits in recognized linkage to gene expression in neurology, cardiology, oncology, and gerontology.

The workshop concluded with a plea to exploit new opportunities created by the genome program's success, integrate diverse efforts, and optimize resources.