Case studies

The three case studies we have chosen for detailed analysis in the context of global genomic governance are the International HapMap Project; pharmacogenomics and AD; and DNA profiling for criminal investigation. Our three cases constitute different, though partially overlapping fields of genomics knowledge and applications. They display different constellations of actors, and pose different challenges for governance, thereby exemplifying the complexity and variety of the topic.

The first case study (the HapMap project) looks at the case of transnational/global organization of a science/technology project; the second case study, in the field of pharmacogenomics, looks at an example of how a disease of aging (AD) is being dealt with by means of genomics research and testing in the global/regional arena; and, our third case study, DNA profiling for criminal investigation, examines how a socio-political problem field, crime, is being dealt with through genomics research and organization.
Case Study 1: The HapMap Project
In 2002, a grant of USD 100 million from the NIH, the Canadian government, the Wellcome Trust Sanger Institute in the UK, the SNP Consortium, and sources in Japan and China, kicked off the International HapMap project. Its objective is to examine 200 to 400 genetic samples from three population groups: From Utah (northern European ancestry), from Nigeria (Yoruba), and from eastern Asia (Chinese and Japanese). It draws upon previous research suggesting that haplotype pattern differences correlate partly with migration histories (The International HapMap Consortium 2003).
With its overall objective to learn about complex diseases, it is based upon the so-called common disease – common variant hypothesis: the theory that complex diseases are influenced by genetic variants which are common in human populations. While this hypothesis has many critics (Kittles & Weiss 2003), supporters hold that the HapMap Project could facilitate association studies of candidate genes and chromosome regions without knowing the functions of the putative variants by helping to establish a “catalogue of common variants by contributing to our understanding of the patterns of linkage disequilibrium in multiple human populations” (Rotimi 2004: S43). The information obtained through the HapMap Project will be made freely available in the public domain.
We will study the HapMap project as one instance in which genomic governance is “deliberately” global, both in the way the project is organized, and with regard to its research objective. The point of reference is the world’s population in its entirety; the examined populations are seen to be as close as possible to being representative of the world’s population. Nevertheless, this global dimension of genomic governance interacts with particular regional concepts of identities, the right moral conduct, and best scientific practice. We will analyze how identity and difference of human beings are constructed through the project, and in what ways they differ from traditional categories of “race” and “ethnicity”. We will also raise questions of possible group stigmatization (in a study with samples from identified populations), the role of sex and gender, and take into consideration ongoing discussion about the value of creating haplotype “maps”. What sort of global genomic geography is being constructed? Where are the points of opposition/resistance (also as compared to the Human Genome Diversity Project)? What are the new ethical challenges and how do we govern them?
  Case Study 2: Pharmacogenomics and Alzheimer´s disease (AD)
Pharmacogenomics represents a relatively new field of genomics. The declared end of the “one size fits all” approach in pharmaceutical drug development, prescription, and therapy brings about the emergence of new biosocialities (Rabinow 1996) that are relatively independent from national boundaries and regional practices and knowledge. The case of AD represents an intriguing instance of how clinical practices and knowledges have been transformed by the influx of genomics.
Controversy has existed for a long time about whether or not AD is a distinctive clinical entity, and to what extent its boundaries to other forms of dementia (Lewy body dementia, vascular dementia) are fluent (Hedgecoe 2004). Traditionally, the diagnosis of AD has consisted mainly of ruling out alternative conditions. Whereas the lack of clarity with regard to the distinctiveness of AD from other diseases has not been fully resolved, the development of APOE genotyping (a test for the existence of a particular version of a gene – APOE - held partly responsible for the development of AD) despite considerable resistance from the side of clinicians, has affected both clinical practices and the relevant body of knowledge in the field of AD .
Some of the unintended consequences of the global scientific debate about the importance of the APOE gene in the development of the disease are establishing an agreed upon understanding of AD as a genetic disease (although not solely genetic); the channelling of attention and research funds to individual and “ethnic” genetic variations (see, for example, Farrer et al 1997) both for the development of the disease but also to responses to drugs (Tacrine); and, significant non-corporate and corporate interest. The global practices and knowledges of pharmacogenomics have altered clinical practices in the field of AD and produced new infrastructures, identities, and knowledges. In our project we will thus address questions with regard to both pharmacogenomics in general and AD in particular. These will include: What does the “rationalization” of medicine, through the means of pharmacogenomics, mean on a global scale? What does it mean when propagators of pharmacogenomics speak of more “efficient” drugs? Are these “global” categories? What socio-economical impacts can be expected from a shift in pharmaceutical research towards personalized medicine? What is the role of the pharmaceutical and life sciences industries, and also the effect of testing on insurance issues?
  Case Study 3: DNA profiling for criminal investigation
When DNA evidence arrived in our courtrooms some 15 years ago, it was labelled, “the single greatest advance in the ’search for truth‘, and the goal of convicting the guilty and acquitting the innocent, since the advent of cross-examination” (New York v. Wesley 1988: 644). Genomics has entered the field of criminology and law enforcement as a new “language of truth”, which, despite ongoing discussions about the correct interpretation of the use of forensic DNA data, is still seen as more reliable than many other kinds of “evidence”.
Since then, the material and discursive infrastructure that the increasing use of DNA profiling for forensic purposes has brought about, has significantly changed practices of criminal investigation. The technologies and practices needed to build up and maintain such complex systems of suspects, samples and identities, circulate in global spaces and get adopted into regional knowledges and practices. The use of forensic DNA banks modifies the daily construction of such categories as “suspect” and “the convicted” at regional levels. At the same time, emerging networks of forensic DNA data and knowledge not only facilitate the globalization of law enforcement but also open up to other realms of application.
The use (and possible abuse) of national DNA collections for the purpose of the victim identification after the Tsunami represents an example of the power of genomics as a “language of truth”, which transcends boundaries of trust and informed consent because of the reliability ascribed to it on a global scale. In our research project, we embrace the notion of “biological citizenship” (Novas & Rose 2000), and the implications for such citizenship in the emergent global discourse of genomic security with regard to forensics and criminal investigation. We examine key questions such as: What impact does DNA profiling in criminal investigation have on the emergence (and/or modification) of genomics as a “global language of truth”? How do regional practices and knowledges interact with the global flow of forensic DNA practices and knowledges? How do medical and non-medical applications of genomic knowledge and practices interact? To what extent do forensic biobanks contribute to both a regional and global “state of exception”?
 Updated 2006-03-28