Abstract

Understanding the organization, variation, and expression of the human genome is central to the principles of genomic and precision health. Based on the availability of a reference sequence of the human genome, on an emerging appreciation of the extent of genome variation among different individuals and populations, and on a growing understanding of the role of genome variation in disease, it is now possible to begin to exploit the impact of that variation on human health on a broad scale. The comparison of individual genomes underlies the conclusion that virtually every individual has his or her own unique constitution of gene products, produced in response to the combined inputs of the genome sequence and one's particular set of environmental exposures and experiences. This awareness is reminiscent of what the British physician Archibald Garrod termed “chemical individuality” over a century ago and provides a conceptual foundation for the practice of genomic and precision health.

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