Authors' objectives:

The main objectives of this report are: - to elaborate a directory of Spanish molecular genetic testing (MGT) laboratories - to analyse the results of a survey carried out on the identified laboratories according to the procedures established by OECD.

Authors' results and conclusions: From the 102 originally detected labs, 72 valid complimented questionnaires were received and analysed. All Spanish Regional entities have Molecular Genetic Testing Labs. An institutional distribution of the Spanish labs shows that 54% are in public hospitals, 15% are private labs and 19% are research centres. Monogenic diseases are practically studied by all the labs. Pre-synthomatic tests are more frequently realized in private labs or hospitals. An important number of labs are concerned with pharmaco-genetics. The majority of lab directors or supervisors have long experience (40%) or have been trained on molecular genetics (60%). The genetic counselling is provided by physician professionals employed or associated to the labs. 77% of labs analyse specimens collected either in-situ or ex-situ. All labs accept samples of whole blood, 68% organ and 55% post-mortem (tissues or fluids). Samples from other countries are accepted and studied by 41% of the labs. All the disorders (32) included in the OECD questionnaire are offered by the Spanish labs. There is an evident heterogeneity in the methodology used by the Spanish labs. Small percentage of the labs use automated systems and commercial reagents (11%), 54% uses non-automatic systems and in-house reagents. The most frequent method is the direct mutation analysis using PCA-based technique (90%) followed by direct mutation analysis using sequencing. Standard operating procedures are available in the majority of Spanish labs but in 40% of the research centres. Nearly all labs (92%) issue a report to the referring physician or institution, summarizing the results of the Molecular Genetic analysis. Only 29% of the tests are also sent directly to the patient. The Informed Consent of the patient is prior to any of the Genetic testing offered by the labs though only 60% of them request a documented consent. Licensing and accreditation: As a result of the absence of any specific legislation in Spain on MGT labs, 75% of the labs believe that licensing is not necessary and only 23% believe the opposite. Only 35% of the labs answered that they accredited/certified by recognised agency or accrediting body. Those results show a confusing situation in our country. Participation in proficiency testing programmes is the case with 75% of the Spanish laboratories. Few labs (13%) offer tests covered by patents recognized in our country.

Authors' recommendations: In the first place, it has to be noted that more than 70% of the labs answered the survey. An important increase of the number of Spanish labs performing MGTs has been observed in comparison to previous studies. The number of Spanish labs identified as research centres or private labs is similar to that identified for the whole OECD countries, nevertheless slightly lower in the case of the research centres and higher in the private labs. It appears a confusing situation among the laboratory directors concerning the necessity or not of licensing and possible accreditation mechanisms. This can be explained by the absence of specific regulation in Spain for this type of laboratories and activities. Another aspect that needs further studies is the lack, in our National Health System, of clinical geneticists with formal medical qualification trained in Molecular Genetics.

Authors' methods: Survey

Project Status: Completed

URL for project: http://www.isciii.es/aets

Year Published: 2004

English language abstract: An English language summary is available

Publication Type: Not Assigned

Country: Spain

Organisation Name: Agencia de Evaluacion de Tecnologias Sanitarias

Contact Address: Instituto de Salud "Carlos III", Calle Sinesio Delgado 6, Pabellon 4, 28029 Madrid, Spain. Tel: +34 9 1 822 2005; Fax: +34 9 1 387 7841;

Contact Name: Luis M. Sánchez Gómez

Contact Email: luism.sanchez@isciii.es

Copyright: Agencia de Evaluacion de Tecnologias Sanitarias (AETS)