Bridging the gap between molecular genetics and metabolic medicine: accessto genetic information

Thanks to the World Wide Web, most results of research in genetics are made available in public databases. At the present time there are resources on genetic diseases, genes and their location, mutations of already cloned gen es and on laboratories performing the mutation analysis. The main resources on phenotypes are On-line Mendelian Inheritance in Man (OMIM), Pedbase, Ge neClinics, London Dysmorphology Database (LDDB) and Orphanet. The main reso urces on human genes are, in addition to OMIM, the Genome Database, Genatla s and Genecard. There are also two major sequence databases. All of them ca n be queried using the OMIM number of the disease. Central databases of mut ations, as well as locus specific databases have been created. Their list i s maintained at the Human Genome Organisation mutation database initiative website. Several initiative have been taken to integrate all these data and help the clinician to find out quickly what he/she needs. The website of t he National Center for Biotechnology Information is the best example of suc h an effort with sections on diseases, a genome guide, and locus links. Sev eral databases of genetic testing resources have been established. GeneTest s is an on-line genetics resource that contains a directory of North Americ an laboratories providing testing for heritable disorders. Orphanet is a si milar database on French services which is in the process of becoming a Eur opean database. Conclusion Even if clinicians do not have as many services at their disposa l as the molecular geneticists, various useful databases already exist and should no longer be ignored in practice.