PURPOSE: To characterize ethical, legal, and social issues unique to population genetic database research and to determine the relevance of international recommendations and guidelines for addressing these issues in the development of "genebank" projects globally. METHODS: Building on our previous description of eight international genebanks, we conducted a comprehensive electronic search and literature review of relevant publications and consulted national and international documents applicable to genebank research. RESULTS: We identified and characterized five categories of ethical, legal, and social issues unique to genebank development: sponsorship and benefit-sharing, neutrality and regulatory power of ethics committees, public engagement, consent, and data protection. We illustrate these issues with examples from specific genebanks. Not all of the issues are addressed in current international guidelines, many of which are nonspecific and unenforceable. CONCLUSION: The trend of genebank development promises to provide new discoveries to the field of medical science and to greatly improve public health. However, there is a growing need for more explicit, enforceable, and coordinated international guidelines relevant to the development and implementation of genebanks. By comparing ethical, legal and social issues as they arise in genebanks, researchers can better evaluate how to best use these projects to improve public health while protecting participating populations.

Recent completion of the draft sequence of the human genome has been greeted with both excitement and skepticism, and the potential of this accomplishment for advancing public health has been tempered by ethical concerns about the protection of human subjects. This commentary explores ethical issues arising in human genome epidemiology by using a case study approach based on the ongoing Japanese American Family Study at the University of Washington in Seattle (1994-2003). Ethical issues encountered in designing the study, collecting the data, and reporting the study results are considered. When developing studies, investigators must consider whether to restrict the study to specific racial or ethnic groups and whether community involvement is appropriate. Once the study design is in place, further ethical issues emerge, including obtaining informed consent for DNA banking and protecting the privacy and confidentiality of family members. Finally, investigators must carefully consider whether to report genotype results to study participants and whether pedigrees illustrating the results of the study will be published. Overall, the promise of genomics for improving public health must be pursued based on the fundamental ethical principles of respect for persons, beneficence, and justice.

BACKGROUND : The work of Research Ethics Boards (REBs), especially when involving genetics research and biobanks, has become more challenging with the growth of biotechnology and biomedical research. Some REBs have even rejected research projects where the use of a biobank with coded samples was an integral part of the study, the greatest fear being the lack of participant protection and uncontrolled use of biological samples or related genetic data. The risks of discrimination and stigmatization are a recurrent issue. In light of the increasing interest in biomedical research and the resulting benefits to the health of participants, it is imperative that practical solutions be found to the problems associated with the management of biobanks: namely, protecting the integrity of the research participants, as well as guaranteeing the security and confidentiality of the participant's information. METHODS : We aimed to devise a practical and efficient model for the management of biobanks in biomedical research where a medical archivist plays the pivotal role as a data-protection officer. The model had to reduce the burden placed on REBs responsible for the evaluation of genetics projects and, at the same time, maximize the protection of research participants. RESULTS : The proposed model includes the following: 1) a means of protecting the information in biobanks, 2) offers ways to provide follow-up information requested about the participants, 3) protects the participant's confidentiality and 4) adequately deals with the ethical issues at stake in biobanking. CONCLUSION : Until a governmental governance body is established in Quebec to guarantee the protection of research participants and establish harmonized guidelines for the management of biobanks in medical research, it is definitely up to REBs to find solutions that the present lack of guidelines poses. The model presented in this article offers a practical solution on a day-to-day basis for REBs, as well as researchers by promoting an archivist to a pivotal role in the process. It assures protection of all participants who altruistically donate their samples to generate and improve knowledge for better diagnosis and medical treatment.

Since the inception of the Human Genome Project, human genetics has frequently been conducted through big science projects, combining academic, state and industrial methods, interests and resources. The legitimacy of such projects has been linked to national prestige and images of the nation, the purity of scientific endeavour, the entrepreneurial spirit, medical progress and the public health. A key complication in these discourses is that large-scale genetic research has yet to show major results when considered in terms of the objectives used to legitimate investment and social support for these projects. The main area showing promise at present is the developing field of pharmacogenetics, which is now attracting major industry and government investment. Sociological, ethical and philosophical study of human genetic sample-based research and pharmacogenetics has developed in parallel with inquiry in the biological and biomedical sciences. This paper introduces a symposium on the ethical and social aspects of this field of biomedical research.

BACKGROUND: The purpose of this study is to explore laypersons' attitudes toward the use of archived (existing) materials such as medical records and biological samples and to compare them with the attitudes of physicians who are involved in medical research. METHODS: Three focus group interviews were conducted, in which seven Japanese male members of the general public, seven female members of the general public and seven physicians participated. RESULTS: It was revealed that the lay public expressed diverse attitudes towards the use of archived information and samples without informed consent. Protecting a subject's privacy, maintaining confidentiality, and communicating the outcomes of studies to research subjects were regarded as essential preconditions if researchers were to have access to archived information and samples used for research without the specific informed consent of the subjects who provided the material. Although participating physicians thought that some kind of prior permission from subjects was desirable, they pointed out the difficulties involved in obtaining individual informed consent in each case. CONCLUSIONS: The present preliminary study indicates that the lay public and medical professionals may have different attitudes towards the use of archived information and samples without specific informed consent. This hypothesis, however, is derived from our focus groups interviews, and requires validation through research using a larger sample.

A major moral problem in relation to the deCODE genetics database project in Iceland is that the heavy emphasis placed on technical security of healthcare information has precluded discussion about the issue of consent for participation in the database. On the other hand, critics who have emphasised the issue of consent have most often demanded that informed consent for participation in research be obtained. While I think that individual consent is of major significance, I argue that this demand for informed consent is neither suitable nor desirable in this case. I distinguish between three aspects of the database and show that different types of consent are appropriate for each. In particular, I describe the idea of a written authorisation based on general information about the database as an alternative to informed consent and presumed consent in database research.

BACKGROUND: Implementation of the Health Insurance Portability and Accountability Act (HIPAA) Privacy Rule has the potential to affect data collection in outcomes research. METHODS: To examine the extent to which data collection may be affected by the HIPAA Privacy Rule, we used a quasi-experimental pretest-posttest study design to assess participation rates with informed consent in 2 cohorts of patients eligible for the University of Michigan Acute Coronary Syndrome registry. The pre-HIPAA period included telephone interviews conducted at 6 months that sought verbal informed consent from patients. In the post-HIPAA period, informed consent forms were mailed to ask for permission to call to conduct a telephone interview. The primary outcome measure was the percentage of patients who provided consent. Incremental costs associated with the post-HIPAA period were also assessed. RESULTS: The pre-HIPAA period included 1221 consecutive patients with acute coronary syndrome, and the post-HIPAA period included 967 patients. Consent for follow-up declined from 96.4% in the pre-HIPAA period to 34.0% in the post-HIPAA period (P<.01). In general, patients who returned written consent forms during the post-HIPAA period were older, were more likely to be married, and had lower mortality rates at 6 months. Incremental costs for complying with the HIPAA Privacy Rule were $8704.50 for the first year and $4558.50 annually thereafter. CONCLUSIONS: The HIPAA Privacy Rule significantly decreases the number of patients available for outcomes research and introduces selection bias in data collection for patient registries.