Clinical researchers, practicing physicians, patients, and the general
public now live in a world in which the 2.9 billion
nucleotide codes of the
genome are available as a resource for scientific discovery. Some of
the findings from the sequencing of the human genome were expected, confirming
knowledge presaged by many decades of research in both human and comparative
genetics. Other findings are unexpected in their scientific and philosophical
implications. In either case, the availability of the human genome is likely
to have significant implications, first for clinical research and then for
the practice of medicine. This article provides our reflections on what the
new genomic knowledge might mean for the future of medicine and how the new
knowledge relates to what we knew in the era before the availability of the
genome sequence. In addition, practicing physicians in many communities are
traditionally also ambassadors of science, called on to translate arcane data
or the complex ramifications of biology into a language understood by the
public at large. This article also may be useful for physicians who serve
in this capacity in their communities. We address the following issues: the
number of protein-coding genes in the human genome and certain classes of
noncoding repeat elements in the genome; features of genome evolution, including
large-scale duplications; an overview of the predicted protein set to highlight
prominent differences between the human genome and other sequenced eukaryotic
DNA variation in the human genome. In addition, we show how this
information lays the foundations for ongoing and future endeavors that will
revolutionize biomedical research and our understanding of human health.
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