Implementing Personalized Medicine

The completion of the Human Genome Project (HGP) brought with it the opportunity to explore the whole spectrum of human health and disease from the fresh perspective of genome science. The vision of genomics research as detailed in the blueprint for the genomic era81 was formulated into three major themes—genomics and biology, genomics in health, and genomics to society— and six elements cross-cutting all three thematic areas. The six elements were resources, technology development, computational biology, training, ethical, legal, and social implications (ELSI), and education. Finally, a series of bold achievements was proposed that would have profound implications for genomics research and its applications to medicine.

As to the second of the major themes set forth in the blueprint, genomics in health, the original framers of the HGP were explicit in their expectation that it would lead to improvements in human health. With the completion of the HGP, the vision included the development and application of strategies to identify genes and pathways with roles in health and disease and how they interact with the environment; to develop, evaluate, and apply genome-based diagnostic methods for the prediction of susceptibility to disease, drug response, early detection, and accurate molecular classification of disease; and to develop methods that catalyze the translation of genomic knowledge into therapeutic advances.

Collins and colleagues81 and Khoury82 both argued for the organization of large, longitudinal population-based prospective cohort studies as resources to meet the goals outlined above. Projects such as the UK Biobank (www.ukbio, the Estonian Genome Project (, and the Marshfield Clinic Personalized Medicine Research Project (www.mfldclin. edu/pmrp) were already seeking to provide such resources.

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