Genomic Information and the Future of Health Care

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Embracing all the myriad variations of the human genome should, in theory, lead to rewards that all can share.
Embracing all the myriad variations of the human genome should, in theory, lead to rewards that all can share.

The genomic revolution, ushered in by the completion of the human genome project in 2003, promises to deepen our understanding of human life. Many scientists hope that by undertaking genomic sequencing of large swaths of the human population we will be able to shed light on such diverse areas as the history of the species, the conspiracy of environment with the genome, and the genetic idiosyncrasies of drug metabolism.

Encouraged by these prospects, large-scale genetic databases, or biobanks, were created worldwide to take advantage of the skyrocketing efficiency of high-throughput genomics techniques. Research universities, pharmaceutical companies, government organizations, and private corporations have launched initiatives to found repositories of biological samples, many of which exist as isolated silos contained within their respective institutions.

Some biobanks focus on a particular disease process or condition, such as breast cancer or inflammatory bowel disease. Others are prospective population-based collections that aim to uncover the peculiar predispositions of a specific ethnic or geographical group. For either project, biological material must be matched with clinical and ethnographic information, such as medical records and lifestyle information. And the larger the sample size, the greater the statistical power, and the wider the genomic and clinical variation. This has engendered a movement to liberalize the access to biobanks for research purposes.

A leader in this area is the Global Alliance for Genomics and Health, an international, nonprofit alliance based in Toronto, Canada, which has called for a framework to facilitate responsible and effective data-sharing among independent “siloed” databases. They have put forward an open-ended approach, known as the “Beacon Project,” to simplify and standardize the means of sharing biomedical data via the internet.1 One problem for this project is the ethics of large-scale genomics research.

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