Non-reporting and inconsistent reporting of race and ethnicity in articles that claim associations among genotype, outcome, and race or ethnicity.

BACKGROUND: The use of race as a category in medical research is the focus of an intense debate, complicated by the inconsistency of presumed independent variables, race and ethnicity, on which analysis depends. Interpretation is made difficult by inconsistent methods for determining the race or ethnicity of a participant. The failure to specify how race or ethnicity was determined is common in the published literature. HYPOTHESIS: Criteria by which they assign a research participant to racial or ethnic categories are not reported by published articles. METHODS: Methods were reviewed for assigning race and ethnicity of research participants in 268 published reports reporting associations among race (or ethnicity), health outcome and genotype. RESULTS: Of the 268 published reports reviewed, it was found that 192 (72%) did not explain their methods for assigning race or ethnicity as an independent variable. This was despite the fact that 180 (67%) of those reports reached conclusions about associations among genetics, health outcome and race or ethnicity. CONCLUSIONS: More attention needs to be given to the definition of race and ethnicity in genetic studies, especially in those diseases where health disparities are known to exist.

Privacy, families, and human subject protections: some lessons from pedigree research.

Studies that involve getting information from people about other people, including pedigree studies, create obligations to those other people. Defining them as "human subjects," however, does not solve the ethical problems and will, in some cases, make important lines of study impractical or even impossible. The more important task is to define what the ethical obligations are and how to ensure that they are carried out. Some heuristics based on the study of families with inherited Alzheimer's disease suggest that consultation with family members and attention to confidentiality should more directly address the ethical problems than try to treat families merely as collections of people with individual rights. The individual-based approach will necessarily fail when different family members differ in their judgments about the risks and benefits of disclosing information, which will, in turn, lead to the most restrictive individual controlling what others in the family can disclose. This solution is unlikely to be supported in practice by families or researchers or to be sanctioned by the courts. The current policy of the federal Office for Human Research Protections, based on an interpretation of the definition "human subject," is incoherent and will need to be changed, preferably through a process that involves broad debate among all stakeholders but most particularly involving members of families being studied.

Protecting the vulnerable in brain research.

Robert M. Cook-Deegan, M.D., of the Kennedy Institute of Ethics, Georgetown University, looks at several new attempts to forge workable policy on participation in clinical brain research and warns that another unresolved clash of interests will produce only victims. Although the issues are complex, says Cook-Deegan, there is ample common ground. He recommends some principles that could help to end the costly stalemate.

The Human Genome Project after a decade: policy issues.

The Human Genome Project began a decade ago, its early momentum fueled by two reports. A report from the National Research Council (NRC) in February 1998 endorsed the project and provided the basis for the first joint plan by the National Institutes of Health (NIH) and the Department of Energy (DOE). A report from the Office of Technology Assessment (OTA) in April 1988, provided Congress with a means to assess the roles of NIH and DOE. Both reports highlighted the importance of genomics and emphasized the need for a concerted research program. The committees did not predict the large investment of private funds or the extensive patenting of sequences, and they underestimated the rate of progress. Overall, though, the consensus-building provided by the committees helped to set the blueprint for one of the great success stories in modern biology.

The role of physicians in conflicts and humanitarian crises. Case studies from the field missions of Physicians for Human Rights, 1988 to 1993.

Violations of human rights in wars, civil conflicts, and brutal repression mounted by governments against their own citizens often have profound consequences to individual and public health and may, in turn, produce humanitarian crises. The skills of physicians, medical and forensic scientists, and other health workers are uniquely valuable in human rights investigations and documentation, producing evidence of abuse more credible and less vulnerable to challenge than traditional methods of case reporting. Only in recent decades, however, have physicians organized specifically to meet this responsibility. This article presents case studies from the field missions of Physicians for Human Rights to illustrate the investigation and documentation of violations of medical neutrality, refugee health crises, the use of indiscriminate weapons, torture, deliberate injury and rape, and mass executions. Participation of health workers in the defense of human rights now includes investigation and documentation of health effects in threatened populations as well as individual victims.

Origins of the Human Genome Project.

The Human Genome Project has become a reality. Building on a debate that dates back to 1985, several genome projects are now in full stride around the world, and more are likely to form in the next several years. Italy began its genome program in 1987, and the United Kingdom and U.S.S.R. in 1988. The European communities mounted several genome projects on yeast, bacteria, Drosophila, and Arabidospis thaliana (a rapidly growing plant with a small genome) in 1988, and in 1990 commenced a new 2-year program on the human genome. In the United States, we have completed the first year of operation of the National Center for Human Genome Research at the National Institutes of Health (NIH), now the largest single funding source for genome research in the world. There have been dedicated budgets focused on genome-scale research at NIH, the U.S. Department of Energy, and the Howard Hughes Medical Institute for several years, and results are beginning to accumulate. There were three annual meetings on genome mapping and sequencing at Cold Spring Harbor, New York, in the spring of 1988, 1989, and 1990; the talks have shifted from a discussion about how to approach problems to presenting results from experiments already performed. We have finally begun to work rather than merely talk. The purpose of genome projects is to assemble data on the structure of DNA in human chromosomes and those of other organisms. A second goal is to develop new technologies to perform mapping and sequencing. There have been impressive technical advances in the past 5 years since the debate about the human genome project began. We are on the verge of beginning pilot projects to test several approaches to sequencing long stretches of DNA, using both automation and manual methods. Ordered sets of yeast artificial chromosome and cosmid clones have been assembled to span more than 2 million base pairs of several human chromosomes, and a region of 10 million base pairs has been assembled for Caenorhabditis elegans by a collaboration between Washington University and the Medical Research Council laboratory in Cambridge, U.K. This project is now turning to sequencing C. elegans DNA as a logical extension of this work. These are but the first fruits of the genome project. There is much more to come.