Leiden University Scholarly Publications

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Povey, S.; Aqeel, A.I. al; Cambon-Thomsen, A.; Dalgleish, R.; Dunnen, J.T. den; Firth, H.V.; ... ; Cotton, R.G.H. (2010)

Practical Guidelines Addressing Ethical Issues Pertaining to the Curation of Human Locus-Specific Variation Databases (LSDBs)

Article / Letter to editor
More than 1,000 Web-based locus-specific variation databases (LSDBs) are listed on the Website of the Human Genetic Variation Society (HGVS). These individual efforts, which often relate phenotype to genotype, are a valuable source of information for clinicians, patients, and their families, as well as for basic research. The initiators of the Human Variome Project recently recognized that having access to some of the immense resources of unpublished information already present in diagnostic laboratories would provide critical data to help manage genetic disorders. However, there are significant ethical issues involved in sharing these data worldwide. An international working group presents second-generation guidelines addressing ethical issues relating to the curation of human LSDBs that provide information via a Web-based interface. It is intended that these should help current and future curators and may also inform the future decisions of ethics committees and legislators. These...Show moreMore than 1,000 Web-based locus-specific variation databases (LSDBs) are listed on the Website of the Human Genetic Variation Society (HGVS). These individual efforts, which often relate phenotype to genotype, are a valuable source of information for clinicians, patients, and their families, as well as for basic research. The initiators of the Human Variome Project recently recognized that having access to some of the immense resources of unpublished information already present in diagnostic laboratories would provide critical data to help manage genetic disorders. However, there are significant ethical issues involved in sharing these data worldwide. An international working group presents second-generation guidelines addressing ethical issues relating to the curation of human LSDBs that provide information via a Web-based interface. It is intended that these should help current and future curators and may also inform the future decisions of ethics committees and legislators. These guidelines have been reviewed by the Ethics Committee of the Human Genome Organization (HUGO). Hum Mutat 31: 1179-1184, 2010. (C) 2010Wiley-Liss, Inc.Show less
phenotype LSDB data-sharing ethics curators guidelines diagnostic test consent human variome project recommendations privacy
All authors
Povey, S.; Aqeel, A.I. al; Cambon-Thomsen, A.; Dalgleish, R.; Dunnen, J.T. den; Firth, H.V.; Greenblatt, M.S.; Barash, C.I.; Parker, M.; Patrinos, G.P.; Savige, J.; Sobrido, M.J.; Winship, I.; Cotton, R.G.H.
Date
2010-11-30
Journal
Human Mutation
Volume
31
Issue
11
Pages
1179 - 1184
DOI
doi:10.1002/humu.21339