Safe-Guarding Protected Information Stored in Genomic Biobanks

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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.

Ethical concerns

As biobanks proliferate, the ethical challenges loom large, with concerns that extend beyond the traditional domain of research ethics. These have been addressed by governing organizations, both national and international, but no consensus has been reached.2

Problems related to informed consent typically top the list. Consent is an intuitive concept meant to respect the right of the person over his or her bodily material and genetic information, and there are a number of novel complications with genomic research.3,4 For example, not all future uses of the data are known at the time of consent. Advances in technology, biology, and medicine continually open new realms of research, often in unexpected ways.

Limiting the use of biological material to the terms of consent from a bygone era, however, seems to be excessively restrictive, precluding the use of extremely valuable and irreplaceable material. Yet returning to the individual that donated material for biomedical research each time a new use is identified is wholly impractical in most cases. The “opt-out” option turns a blind eye to the issue of consent: a practical stop-gap to a thorny problem.

Another issue pertains to safe-guarding the sensitive genetic and clinical information critical to the biobanking enterprise. The genome is a well of powerful information. It can reveal predispositions to mortal conditions for the individual and his or her children. It can disclose secrets about the individual's heritage. It also contains information that cannot be deciphered with today's technology that may be considered sensitive in the future. The potential for misuse is high simply because the data are so revealing and poorly understood.

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