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Article Excerpt
Abstract. This essay examines issues involving personal privacy and informed consent that arise at the intersection of information and communication technology (ICT) and population genomics research. I begin by briefly examining the ethical, legal, and social implications (ELSI) program requirements that were established to guide researchers working on the Human Genome Project (HGP). Next I consider a case illustration involving deCODE Genetics, a privately owned genetics company in Iceland, which raises some ethical concerns that are not clearly addressed in the current ELSI guidelines. The deCODE case also illustrates some ways in which an ICT technique known as data mining has both aided and posed special challenges for researchers working in the field of population genomics. On the one hand, data-mining tools have greatly assisted researchers in mapping the human genome and in identifying certain "disease genes" common in specific populations (which, in turn, has accelerated the process of finding cures for diseases that affect those populations). On the other hand, this technology has significantly threatened the privacy of research subjects participating in population genomics studies, who may, unwittingly, contribute to the construction of new groups (based on arbitrary and non-obvious patterns and statistical correlations) that put those subjects at risk for discrimination and stigmatization. In the final section of this paper I examine some ways in which the use of data mining in the context of population genomics research poses a critical challenge for the principle of informed consent, which traditionally has played a central role in protecting the privacy interests of research subjects participating in epidemiological studies.
Key words: data mining, deCODE Genetics, distributional group profiles, epidemiology, genetic exceptionalism, genomic research, informed consent, non-distributional group profiles, personal privacy, population genomics
Introduction: Some background issues
The notion that information acquired through genetic and genomic research can have significant ethical and social implications, especially for those persons who may experience stigmatization and discrimination as a result of this research, is now fairly well accepted. Anticipating certain kinds of ethical concerns that would likely arise out of work on the Human Genome Project (HGP), the National Human Genome Research Institute (NHGRI) proposed that ethical, legal, and social implications (ELSI) be identified and addressed. HGP's planners recognized that information gained from mapping and sequencing (1) the human genome would very likely have profound ethical implications for individuals, families, and society in general. (2) For example, they realized that while this information would have the potential to dramatically improve human health, certain uses of it could also easily result in harm to some people.
In 1990, the ELSI working group issued its first report in which it also described ELSI's scope and primary functions. Among the specific responsibilities identified in that report were that the ELSI Program, in addition to anticipating and addressing social and ethical implications of mapping and sequencing the human genome, would seek to: (a) stimulate public discussion of the issues, and (b) develop policy options that would help to assure that the information acquired via genomic research would be used to benefit individuals and society. (3) The ELSI Program has provided genomic researchers with a fairly comprehensive set of ethical guidelines. To its credit, ELSI was the first bioethics program to take a proactive rather than a reactive approach to addressing ethical concerns likely to arise in the course of medical and bio-technological research. (4)
Work on the HGP, whose initial focus was on mapping the human genome, has since spawned a number of related programs and initiatives. One such program is the Environmental Genome Project (EGP), recently launched in the U.S. by the National Institute for Environmental Health Sciences (NIEHS). (5) Operating on the assumption that nearly all human diseases result from a combination of environmental exposures and genetic variation, EGP research focuses on the analysis of common sequence variations in environmental-response genes (Christiani, Sharp, Collman, and Suk, 2001). EGP is part of a larger initiative involving genetic and genomic research, which is now commonly referred to as population genomics. The goal of this relatively new field is to identify the underlying genes responsible for common chronic diseases, such as breast cancer and heart disease, in large populations (Taubes, 2001).
An early example of population genomics research (in the 1970s) can be found in Nancy Wexler's classic study of an extended Venezuelan family to locate the gene for Huntington's disease. Since Wexler's discovery, faster methods of testing DNA samples have been developed. Faster computers, as well as a new generation of software to compare and contrast DNA variations, are now also used. Because of the advances in both ICT and genomics technologies, it is easier, both in principle and in practice, to identify individuals and groups that are susceptible to certain kinds of diseases. Some broader ethical and social issues associated with these technological advances cause us to question whether the original ELSI guidelines are still adequate.
We should note that the ELSI guidelines were developed at a point in time when HGP researchers focused primarily on mapping the human genome. Now that this phase of HGP has been successfully completed, EGP researchers are concentrating their efforts on understanding the function of particular genes and gene segments. Assuming that the ELSI guidelines may have been adequate in the earlier days of HGP research, (6) we can ask whether they are now sufficiently robust to handle ethical concerns that arise because of work on later-HGP initiatives such as EGP? (7) We next consider a case that illustrates some ethical concerns that could not easily have been anticipated by the framers of the ELSI guidelines at the time the ELSI Research Program was established.
Case Illustration: deCODE Genetics, Inc.
In 1996, Kari Stefansson, then a professor of Neurology, Neuropathology, and Neroscience at Harvard University, left his academic position to set up a genetics company in the private sector. His work on a Harvard-sponsored investigation into multiple sclerosis, and his concerns about limited resources involving access to data about populations, influenced Stefansson's decision to seek private funding to start a genetics company. Stefansson believed that technology was no longer the primary limiting factor in genetic research; rather, he saw the policies and bureaucracies in academia as posing major roadblocks to genetic discovery. He also believed that the right kind of resources needed for genetics research could be found in a homogeneous population such as that of Iceland, his native country. Iceland's 280,000 inhabitants are descended from a common set of ancestors (Norse and Celts) who arrived there in the ninth century. Because the country's population was virtually isolated until World War II, it has remained remarkably homogeneous and thus provides population genomics researchers like Stefansson with an ideal resource.
Stefansson negotiated with the Icelandic government for access to the nation's health care records, which date back to 1915. He already had easy access to the Iceland's genealogical data, comprised of records that date back more than 1,000 years. Iceland's Parliament also promised Stefansson access to any government-owned medical information that he would need to conduct his research. With these and other agreements in hand, Stefannson founded deCODE Genetics, Inc. (8) and immediately began work on the construction of a genetics database consisting of information based on DNA samples acquired from 70,000 volunteers. DeCODE was then able to link together and cross-reference medical/healthcare records, genealogical records, and genetic information included in the three separate databases that comprise the Icelandic Healthcare Database (IHD). With this information, deCODE has thus far successfully identified genes associated with several different diseases, including osteoporosis, osteoarthritis, schizophrenia, and psorosis (Taubes, 2001).
Why exactly is the deCODE Genetics case of special interest? First, we should note that deCODE is neither the first nor the most recent private firm to engage in population genomics research. For example, Newfoundland Genomics (Newfoundland, Canada), Autogen (Melbourne, Australia), Uman Genomics (Umea, Sweden), DNA Services (Freemont, California), and Welcome Trust Medical Research Council (UK) are but a few of the privately owned businesses currently engaged in population genomics research. So deCODE's foray into genomic research as a privately funded commercial enterprise is by no means peculiar. However, some of deCODE's practices, unlike those of other commercial genetics companies, have raised controversies that far exceed the criticisms leveled against other private-sector enterprises.
For one thing, critics point to the special relationship that has evolved between deCODE and the Icelandic government. They also point out that the Icelandic parliament's decision to grant deCODE exclusive rights (for 12 years) to the information included in the nation's health-records database--in accordance with Iceland's Act on a Health Sector Database (1998)--raises questions having to do with fairness and equal access. Consider, for example, that researchers who are not affiliated with deCODE are required to pay for the use of medical information that was once freely available to them. But many other kinds of concerns have also been raised with respect to deCODE's relationships with the Icelandic government, as well as with the company's practices involving the collection and cross-referencing of genetic data. For our purposes, four are worth briefly mentioning; these involve allegations having to do with: (1) deceiving the Icelandic population, (2) raising conflicts of interest in the commercial sphere, (3) commodifying genetic information, and (4) violating Iceland's Constitution.
First, consider some criticisms involving the charge of deception. Members of the Icelandic Medical Association (IMA) believe that because deCODE has both exaggerated the results of its research and grossly underestimated the risks to individual privacy and confidentiality, it seriously misled and deceived the Icelandic population and its government. This organization also believes that deCODE used deceptive tactics in manipulating Icelanders by appealing to their sense of patriotism in encouraging them to volunteer their DNA for purposes of the national interest. Second, critics alleging conflict of interest in the commercial sphere point to certain business/financial relationships and arrangements that deCODE has developed with pharmaceutical companies and computer firms. They note that deCODE signed a contract estimated at $200 million with Roche, a Swiss pharmaceuticals company, and signed a 3-year contract with IBM to sell jointly an integrated computer system that combines deCODE's proprietary "gene-mining" software with IBM's servers and database software. Third, charges involving...
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