Practical guidelines addressing ethical issues pertaining to the curation of human locus-specific variation databases (LSDBs)

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The initiators of the Human Variome Project recently recognized that having access to some of the immense resources of unpublished information already present in diagnostic laboratories would provide critical data to help manage genetic disorders.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.

[1]  Andrew Menzies,et al.  A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation , 2009, Nature Genetics.

[2]  Sue Povey,et al.  Sharing data between LSDBs and central repositories , 2009, Human mutation.

[3]  Toshio Kojima,et al.  Planning the Human Variome Project: The Spain report , 2009, Human mutation.

[4]  Patrick L. Taylor.  Personal Genomes: When consent gets in the way , 2008, Nature.

[5]  Paolo Boffetta,et al.  Assessing pathogenicity: overview of results from the IARC Unclassified Genetic Variants Working Group , 2008, Human mutation.

[6]  A. Spurdle,et al.  Locus‐specific databases and recommendations to strengthen their contribution to the classification of variants in cancer susceptibility genes , 2008, Human mutation.

[7]  S. Nelson,et al.  Resolving Individuals Contributing Trace Amounts of DNA to Highly Complex Mixtures Using High-Density SNP Genotyping Microarrays , 2008, PLoS genetics.

[8]  R. Rosenfeld,et al.  Ethics , 2008 .

[9]  C. Barash.  Threats to Privacy Protection , 2007, Science.

[10]  A. Aqeel.  Islamic ethical framework for research into and prevention of genetic diseases , 2007, Nature Genetics.

[11]  George P Patrinos,et al.  Documentation of inherited disorders and mutation frequencies in the different religious communities in Israel in the Israeli National Genetic Database , 2007, Human mutation.

[12]  H. Tabor,et al.  Ethical implications of array comparative genomic hybridization in complex phenotypes: points to consider in research , 2007, Genetics in Medicine.

[13]  R. Matthews.  Consent is crucial to medical research , 2007 .

[14]  Francis S. Collins,et al.  Identifiability in Genomic Research , 2007, Science.

[15]  R. Cotton.  Recommendations of the 2006 Human Variome Project meeting , 2007, Nature Genetics.

[16]  Francis S Collins,et al.  Ethics. Identifiability in genomic research. , 2007, Science.

[17]  C. Walter.  A little privacy, please. Computer scientist latanya sweeney helps to save confidentiality with "anonymizing" programs, "deidentifiers" and other clever algorithms. Whether they are enough, however, is another question. , 2007, Scientific American.

[18]  George P Patrinos,et al.  National and ethnic mutation databases: recording populations' genography , 2006, Human mutation.

[19]  C. Sallée,et al.  Locus‐specific databases: from ethical principles to practice , 2005, Human mutation.

[20]  I. Fokkema,et al.  LOVD: Easy creation of a locus‐specific sequence variation database using an “LSDB‐in‐a‐box” approach , 2005, Human mutation.

[21]  Marya Ostrowski.  A little privacy, please , 2002 .

[22]  B. Knoppers,et al.  Ethical guideposts for allelic variation databases , 2000, Human mutation.