[Spanish scientific output on thirty pathologies of genetic origin]

The Spanish scientific output during the years 2000-2005 on 30 pathologies of genetic origin included in the OCDE survey on molecular genetic testing has been studied.

A total of 105 articles were in MedLine journals on 20 of the pathologies considered. This represents 0.4% of the worldwide publications. However, the Spanish contribution is greater than 2% in some of the pathologies studied worldwide. A total of 266 articles, on 25 pathologies, were found in the Spanish databases IME/ISOC/ICYT. This result makes the total Spanish contribution equivalent to 1.4% of the worldwide output, a value lower than that observed for Spain in Biomedicine and Health Science (2.4%). The number of Spanish articles published on the pathologies studied is greater than those published by Portugal or Holland and lower than those from Italy and France, although Spanish publications are the most abundant for some pathologies.

Out of the Spanish articles published in MedLine journals, 52% have been cited on an average of 12 times. These contain more basic research than those appearing in IME journals, the latter having a more applied character and being published more frequently in Pediatrics journals. Regarding the Spanish articles, 65% come from 97 laboratories in public hospitals, 10 of which are responsible for 43% of the articles in MedLine journals. These show a certain degree of specialization on at least five pathologies.