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April 10, 2013

Genomics in MedicineMaturation, but Not Maturity

Author Affiliations

Author Affiliation: Maine Dartmouth Family Medicine Residency, Augusta, Maine.

JAMA. 2013;309(14):1522-1524. doi:10.1001/jama.2013.3818

April 14, 2013, marks the 10-year anniversary of the official completion of the entire Human Genome Project.1 This genomics theme issue celebrates recent remarkable advances made possible by one of the greatest biological research projects ever conducted. During the last decade, understanding the complexity of the genome has moved beyond infancy into early childhood, a precarious age of exploration filled with an increasing number of triumphs and the occasional mishap. For the field of genomics, this developmental period has been marked by rapid advances in technologies for dissecting genome function in health and disease. Perhaps most surprisingly, the cost of sequencing the genome has decreased by 5 orders of magnitude through roughly the last 10 years,2 a pace that has exceeded expectations. Many types of basic and clinical studies that would have been unthinkably expensive a decade ago are now quite achievable and proceeding quickly. Reflected in the 2011 strategic vision document authored by the National Human Genome Research Institute is an increasing and welcome trend toward rationally exploring how genomic discoveries affect health.3

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