PopAffiliator: online calculator for individual affiliation to a major population group based on 17 autosomal short tandem repeat genotype profile.

Because of their sensitivity and high level of discrimination, short tandem repeat (STR) maker systems are currently the method of choice in routine forensic casework and data banking, usually in multiplexes up to 15-17 loci. Constraints related to sample amount and quality, frequently encountered in forensic casework, will not allow to change this picture in the near future, notwithstanding the technological developments. In this study, we present a free online calculator named PopAffiliator ( http://cracs.fc.up.pt/popaffiliator ) for individual population affiliation in the three main population groups, Eurasian, East Asian and sub-Saharan African, based on genotype profiles for the common set of STRs used in forensics. This calculator performs affiliation based on a model constructed using machine learning techniques. The model was constructed using a data set of approximately fifteen thousand individuals collected for this work. The accuracy of individual population affiliation is approximately 86%, showing that the common set of STRs routinely used in forensics provide a considerable amount of information for population assignment, in addition to being excellent for individual identification.

Impact of development of population-based study in biomedical field on laws and regulations: a cross-strait experience on biobank development.

Together with the completion of the Human Genome Project, biomedical research has marched into the "Post-Genomic Era." In order to take advantage of these extracted gene related information extensively and precisely so as to realize the human being's biological phenomena as well as the mechanism of pathogenesis, consequentially, large scale sample collection of different geological areas and/or ethic group becomes necessary for the future population based genetic research of a country and, in turn, the construction of population-based genetic database (Biobank). In recent years, both mainland China & Taiwan have not only made great progress in information & computation technologies but have also gradually taken a close look into the quality of medicine delivery. Thus, it becomes unavoidable for both sides to create each one's population-based genetic databases (Biobank). Theoretically speaking, the Biobank development shall benefit the study on the correlation between genes and disease and, also, the solution for disease treatment. At the same time, medical diagnosis technology has also been significantly improved. It is believable that the population-based genetic database might be utilized to promote medical quality and to reduce the cost of public health delivery. Furthermore, in the near future, it might become the "raw materials" for medical research application. However, when taking the public welfare promotion as the premises for a Biobank development, severe and multi challenges occurred against traditional legal rules in terms of the privacy protection, public trust development, the compliance of informed consent principle, the implementation of a benefit-sharing doctrine and the possible discrimination concern on the population/participants selection and some other ELSI issues. In this paper, the major legal issues encountered by the Biobank development will be firstly reviewed accompanied with the background information concerning the Biobank development scenario crossing the Taiwan Strait. Also, mainly following the realm of comparative policy or legal approaches, the paper, learning from the fruits of this comparative study, tries to propose some recommendations for future legislative consideration by both mainland China & Taiwan. It's been this author's wish that, when establishing a large scale population based Biobank, the promotion of public trust shall be placed as the primary goal together with the emphasis on the supporting publicity and transparency on the administrative practices, so as to encourage the public participation in observing the principle of altruism and, in turns, benefit the future biomedicine development.

Human genetics studies: the case for group rights.

In this essay, the author focuses on an underlying theoretical issue which she believes seriously affects our collective response to the idea of group rights in the genetic-control context. That issue is to what extent are our responses to claims of group rights hampered by our bringing to the table (consciously or unconsciously) a model which is structured to acknowledge only individual concerns? Put another way, to what extent are our objections to group rights in this context a product of our inability (or refusal) to imagine the idea of group rights, rather than the product of truly substantive concerns?

Human genetic databases and liberty.

This paper examines an act of the Icelandic Parliament on health-sector databases. Both the legislation itself and the manner in which it was presented by the Government to the Parliament and the general public raise various questions about democratic parliamentary procedures, community consultation, autonomy, privacy, professional confidence, control of health data in hospitals and business relationships between medical doctors and biotechnology corporations. A major question to be asked is: In whose interest is it that such sensitive data are handed over to for-profit corporations? Furthermore, is it within the authority of the legislature to authorize politically appointed boards of health institutes to transfer such data without the direct informed consent of the patient and without the relevant physicians' having a say? Does experience teach us to entrust private companies with sensitive personal data? Should the Government be involved in the research policy-making of the biotechnology companies that have been given access to the genetic data of a population, or should the profit motive be the sole deciding influence? That is, should the interest of the shareholders of the companies prevail over the interest of underprivileged groups who are most in need of new methods or medicine to alleviate their situation due to incurable diseases? Or is the invisible hand of the market the only competent decision-maker? Finally, will the proliferation of databases containing sensitive personal data, such as human genetic data, limit our personal liberty?

Common-pool resources and population genomics in Iceland, Estonia, and Tonga.

This paper addresses the application of the ethical concept of trust and the legal and political concept of public trust to population genomics projects in Iceland, Estonia, and Tonga. Focusing on trust and public trust, the paper explores analogies between the genomics projects and the treatment of other common-pool resources, making use of the notion of trust as an ethical demand, derived from the works of Emmanuel Levinas and Knud Eljer Løgstrup. The paper discusses the degree to which the ethical demands for trust and public trust have been established and maintained in the three national population genomics projects.

Population genetic studies: is there an emerging legal obligation to share benefits?

It appears that large-scale population genetic studies are the necessary next step in genomics research. Such studies promise to provide correlative data to permit researchers to understand the etiology of a vast array of complex human diseases. Simultaneously, such studies are increasingly seen as yet another mechanism for the developed world to benefit at the expense of the developing world. In fact, a recent World Health Organization Report suggests that "without explicit attention at the international level, the initial technological fruits of genomics are likely to consist primarily of therapeutic and diagnostic applications for conditions affecting large populations in rich countries." (World Health Organization, Genomics and World Health, 2002). In developed and developing countries alike, there are concerns that the pharmaceutical industry stands to gain at the expense of the population(s) from which population genetic data are derived. In light of the current interest concerning ongoing population genetic studies and an increasing interest by many countries, Canada included, in embarking on large-scale population genetic research, it is appropriate to consider the concept of benefit-sharing as a potential mechanism to assuage these concerns. It is the author's position that by virtue of common law equitable principles and developing norms in international law, including the Human Genome Organization Statement on Benefit-Sharing, that there are principled legal and ethical reasons to compel the sharing of benefits that accrue from the commercialization of the resulting data. Using the United Nations Convention on Biological Diversity and the Bonn Guidelines as a model, I suggest that appropriate benefit-sharing mechanisms have been considered in the context of non-human biological materials and that these same mechanisms may be applicable in the context of international and intra-national population genetic studies.

Governing population genomics: law, bioethics, and biopolitics in three case studies.

Existing scholarship on population genomics has only superficially addressed issues of power and political process. Accordingly, questions of politics and governance pervade the analysis of three population genomics case studies that follow: the Human Genome Diversity Project, Iceland's Health Sector Database, and "Clinical Genomics" as defined by the Beth Israel-Ardais collaboration. An examination of these case studies reveals that the common law, U.S. regulatory law, and international law have not developed the political sophistication to make the traditional promises of biomedical ethics--respect for autonomy, justice, and beneficence--come to fruition. Further, comparisons of these projects illuminate three areas ripe for reframing--informed consent, expert ethical oversight, and commercial benefits. Four avenues of reform are suggested.