SCIENTIFIC CONTRIBUTION Ethical aspects of genome diversity research: genome research into cultural diversity or cultural diversity in genome research? Ilhan Ilkilic Æ Norbert W. Paul Published online: 1 July 2008 Ó Springer Science+Business Media B.V. 2008 Abstract The goal of the Human Genome Diversity Project (HGDP) was to reconstruct the history of human evolution and the historical and geographical distribution of populations with the help of scientific research. Through this kind of research, the entire spectrum of genetic diversity to be found in the human species was to be explored with the hope of generating a better understanding of the history of humankind. An important part of this genome diversity research consists in taking blood and tissue samples from indigenous populations. For various reasons, it has not been possible to execute this project in the planned scope and form to date. Nevertheless, genomic diversity research addresses complex issues which prove to be highly relevant from the perspective of research ethics, transcultural medical ethics, and cultural philosophy. In the article at hand, we discuss these ethical issues as illustrated by the HGDP. This investigation focuses on the confron- tation of culturally diverse images of humans and their cosmologies within the framework of genome diversity research and the ethical questions it raises. We argue that in addition to complex questions pertaining to research ethics such as informed consent and autonomy of probands, genome diversity research also has a cultural–philosophi- cal, meta-ethical, and phenomenological dimension which must be taken into account in ethical discourses. Acknowledging this fact, we attempt to show the limits of current guidelines used in international genome diversity studies, following this up by a formulation of theses designed to facilitate an appropriate inquiry and ethical evaluation of intercultural dimensions of genome research. Keywords Autonomy Á Culture Á Genome diversity research Á Human Genome Diversity Project Á Identity Á Informed concent Human genetic research started to exceed the investigation of Mendelian and classic monogenic diseases long ago. With the sequencing of the human genome a transformation from structural to functional genome research was induced. Nowadays genome research not only investigates the foundations on which genetically determined diseases emerge; it also endeavors to provide elementary knowledge about the biological foundations of life as well as gene– environment interactions and thus strives for an explanation of the underlying mechanisms of complex, multifactorial diseases (Collins and McKusick 2001; Henn 2007; Schrei- ber 2007). In this context, population-based approaches, such as screening procedures using phenotypes and geno- types and large-scale genetico-epidemiological studies and biobanking, have taken on great significance (WHO 2002; Sass 1998; Khoury et al. 2004). For a long time it has been predicted that these research approaches and the results they yield could change our concepts of identity, self-under- standing and thus also social relations (Paul 2001b, 2002). As yet, there is only a weak impact on and no decisive use of genome research findings in everyday medical practices (Ilkilic and Paul 2005; Ilkilic et al. 2007). How potential applications might change medical actions and decisions and thus the physician–patient relationship remains largely unclear (Paul 2001a, 2003). I. Ilkilic Á N. W. Paul Institute for History, Philosophy and Ethics of Medicine, Johannes Gutenberg University, Mainz, Germany I. Ilkilic (&) Institute for History, Philosophy and Ethics of Medicine, Johannes Gutenberg University Mainz, Am Pulverturm 13, 55131 Mainz, Germany e-mail: ilkilic@uni-mainz.de 123 Med Health Care and Philos (2009) 12:25–34 DOI 10.1007/s11019-008-9147-x