Naming names in human genetic variation research

• Published in: Genome research 1998-08, Vol.8 (8), p.755-757
• Main Authors: Foster, M W, Freeman, W L
• Format: Article
• Language: English
• Subjects: Bioethics; Biological Specimen Banks; Confidentiality; Continental Population Groups - genetics; Ethics, Medical; Genetic Predisposition to Disease; Genetic Variation; Genetics, Medical - legislation & jurisprudence; Human Genome Project; Humans; Minority Groups; Tissue Donors
• ISSN: 1088-9051; 1549-5469
• DOI: 10.1101/gr.8.8.755

Genetic differences within and between populations may provide especially productive opportunities for using the sequence generated by the Human Genome Project. In particular, research into human genetic variation may hold long-sought answers to questions about common, complex diseases such as cancer, diabetes, and heart disease. Whereas research into genetic variation is growing rapidly, existing human subjects' protections may not fully take into account population-specific risks. Most threats come from lay persons rather than scientists. Naming a population in a scientific publication, though, can subject all members who share that social identity to risks. Adverse association with disease predisposition can lead to discrimination and stigmatization. The legal status of some populations may be jeopardized by genetic findings about their histories, for instance, affecting claims on land and prehistoric remains asserted by Native Americans. Findings that contradict how a community has used its traditional version of history to construct a unique identity may cause internal sociocultural harms, including psychosocial stress. Population anonymity may eliminate many of these collective risks. If published scientific findings are not linked to a socially identifiable population, those results cannot endanger persons who share such identities. The scientific validity of studies of disease susceptibility and resistance would not be significantly diminished by anonymity - just as pedigree studies have been unaffected by the use of anonymity. As in the case of anonymous pedigree studies, researchers can contact authors of population-anonymous studies for further information should there be reason to replicate findings, make additional comparisons, or investigate new questions. That exchange of information can be handled in a confidential manner that maintains respect for the population's authority to consent to new research proposals.