Abstract
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The initiators of the Human Variome Project recently recognized that having access to some of the immense resources of unpublished information already present in diagnostic laboratories would provide critical data to help manage genetic disorders.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 guidelines have been reviewed by the Ethics Committee of the Human Genome Organization (HUGO). Hum Mutat 31:–6, 2010. © 2010 Wiley-Liss, Inc.
Highlights
This document is designed to assist a curator who intends to provide access to the information contained in a human Locus Specific variation Database (LSDB)
The need for these guidelines has been highlighted by the recognition by initiators of the Human Variome Project (HVP) of the immense unpublished and inaccessible resource of information existing in diagnostic laboratories and the significant clinical need to have access to this information [Cotton et al, 2007; Kaput et al, 2009]
The development of a common ethical framework must be nurtured by culture and country-specific input, the converse holds true: the guidelines will serve as reference for the developers of national laws and local ethics committees
Summary
This document is designed to assist a curator who intends to provide access to the information contained in a human Locus Specific variation Database (LSDB). LSDBs must be cautious in accepting unpublished data from any investigators or from accredited diagnostic laboratories, and consider issues that could limit the clinical accuracy of unpublished submissions, including standardization of clinical language, source of data, individual identification, and consent.
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