Impact of the human genome project on pediatric endocrinology.

摘要

A genomic approach to human biology involves examination of the entire complement of human genes and their protein products in contradistinction to the conventional phenomena-driven examination of individual components, one at a time. This approach may have limitations, but it also has the potential to increase our knowledge by an order of magnitude or more. It is expected that it will leave no field of biology and medicine unaffected, and this includes endocrinology. The structural and functional aspects of the human genome are reviewed, and the nature of the novel knowledge from the genome effort (acquired or expected) is described. More importantly, an overview is given of new ways of thinking and new approaches to endocrine research using genomic concepts and tools. Although these research breakthroughs have relatively few applications in clinical practice at the present moment, the clinician must expect drastic changes in diagnostics and therapeutics in the next decade or two, and endocrine- specific examples of such applications are given. Finally, the question is raised of social and ethical issues that these developments are generating.