This essay examines issues involving personal privacy and informed consent that arise at the intersection of information and communication technology and population genomics research. I begin by briefly examining the ethical, legal, and social implications program requirements that were established to guide researchers working on the Human Genome Project. 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. 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 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. (shrink)

The intersection of ethics, computing, and genetics plots a space not yet adequately mapped, despite its importance, indeed, its rapidly growing importance. Its subdomains are well-enough known: or the study of ethical issues in genetics and genomics, is part of core curricula everywhere. Ethics and computing is an established subfield. Computing and geneticshas in little more than a decade progressed from subsubspecialty to the sine qua non of contemporary biomedical research, and it bids fair to transform clinical practice. We must (...) prepare for the complete digitization of the genomes of individual patients and the storage of millions of these genomes in very large databases. (shrink)