& A Foundation for a Community Consortium in an Inherited Disease and Complete Mutation Collection Proper genetic health care can only be given if standardized genetic tests and information about other patients with particular mutations are available. In this way, physicians are more able to properly advise a patient about the consequences of their mutation. At present, the listing of variations causing disease (mutations) is not complete. Mutation data lie buried in hospital records around the world, which is frustrating since data in Australia, for example, might help to inform medical decisions in Brazil or Canada.
One of the aims of the Human Variome Project (HVP) Consortium (www.humanvariomeproject.org) is to collect all variants that cause disease in articles and databases (See Cotton et al., Genet Med 11:843-849, 2009). Databases of mutations have existed since the 1950s but were often on disparate software in isolation and usually unfunded, and thus vulnerable. In 1992, this journal instituted a ''Mutation Update'' article format, in which expert authors collect mutations, predominantly from the literature. This often led to useful web-based databases.
One disincentive for mutation submission to databases is that there is no reward by way of citation. However, journals will not publish just the 50th or 100th mutation in a gene, so many mutations are never made public. Also, busy clinicians have little time to submit to databases. This led to Human Mutation requesting in 2008 that lead authors of ''Mutation Updates'' invite all labs worldwide that are working on the same gene, to provide mutations to the article in exchange for co-authorship. Nature Genetics has a similar policy.
The article by Boria et al. in this issue (Hum Mutat 31:1269-1279, 2010) reports all mutations in the nine Diamond-Blackfan anemia (DBA) genes identified to date and exemplifies the outcome of this policy. Twenty nine authors from six countries collaborated on the paper, which also updates developments with the DBA Mutation Database. These authors form a potential consortium where scientists will be comfortable contacting each other on problems and strategies. This may well overcome the feeling of isolation felt by labs investigating specific inherited diseases.