BRINGING THE GAP BETWEEN MOLECULAR GENETICS AND PAEDIATRICS: ACCESS TO GENETIC INFORMATION

Ségolène Aymé

Inserm SC11, Gene Mapping and Clinical Research, Villejuif, France

Ensuring highly effective health care for children with rare genetic diseases requires a considerable amount of knowledge to be available to patients, health care professionals and researchers Thanks to the World Wide Web, most results of research in genetics are made available to the scientific community in public databases. As the WWW is not structured, accessing the right information is not always easy. Most databases were developed ignoring the other ones, which makes difficult the establishment of systematic links between the different levels of knowledge At the present time there are resources on genetic diseases, on genes and their location, on mutations of already cloned genes and on laboratories performing the mutation analysis. The clinical resources available on the net are the following: OMIM (http://www3.ncbi.nlm.nih.gov/Omim/sarchomim.html) which is the oldest database of human genetic phenotypes and genes. It is not build to serve the clinicians but contains a list of main signs and symptoms and a summary of what is known on the disease at the molecular genetic level. Pedbase (http://www.icondata.com/health/pedbase/pedlynx.htm) contains summary information on many rare diseases but with no reference to the genetic aspect. GeneClinics (http://www.geneclinics.org) is the best resource in the field but the number of diseases which are already documented is not very high. LKKB and Orphanet (http://orphanet.inobiogen.fr) are dedicated exclusively to dysmorphic syndromes. The main resources on human genes are, in addition to OMIM, the Genome database, Genatlas and Genecard. There are also two major sequence databases. All of them can be queried using the OMIM number of the disease. Central databases of mutations, as well as locus specific databases have been created. Their list is maintained at the HUGO mutation database initiative website (http://ariel.ucs.unimelb.edu.au:80/~cotton/mdi.htm).

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 the NCBI is the best example of such an effort with sections on diseases, a genome guide, and locuslinks. To improve the referral to specialized laboratories and provide high quality information to the physicians and the community, several databases of genetic testing resources have been established. GeneTests (http://www.genetests.org) is an online genetics resource that contains a directory of North American laboratories providing testing for heritable disorders. Orphanet is a similar database on French services which has the project to become soon an European database. Even if the clinicians do not have as many services to their disposal as the molecular geneticists, various useful database already exist and should not be ignored anymore in practice.