Recommendations of the 2006 Human Variome Project meeting.

Lists of variations in genomic DNA and their effects have been kept for some time and have been used in diagnostics and research. Although these lists have been carefully gathered and curated, there has been little standardization and coordination, complicating their use. Given the myriad possible variations in the estimated 24,000 genes in the human genome, it would be useful to have standard criteria for databases of variation. Incomplete collection and ascertainment of variants demonstrates a need for a universally accessible system. These and other problems led to the World Heath Organization-cosponsored meeting on June 20-23, 2006 in Melbourne, Australia, which launched the Human Variome Project. This meeting addressed all areas of human genetics relevant to collection of information on variation and its effects. Members of each of eight sessions (the clinic and phenotype, the diagnostic laboratory, the research laboratory, curation and collection, informatics, relevance to the emerging world, integration and federation and funding and sustainability) developed a number of recommendations that were then organized into a total of 96 recommendations to act as a foundation for future work worldwide. Here we summarize the background of the project, the meeting and its recommendations.

The role of the World Health Organization in promoting medical genetics in Latin America.

The Human Genetics Program of the World Health Organization (WHO) has analyzed the needs for genetic services worldwide and the promotion of genetic approaches for the prevention of diseases linked to primary health care. This article presents a summary of the most important initiatives of the WHO in this field, which have served as a background for the Consultation in Medical Genetics in Latin America, which took place in Porto Alegre, Brazil, in June 19, 2003, and whose working reports are published in this special issue of Community Genetics.