Update of genetic tests map in the Spanish National Health System

In April 2019, the Andalusian Agency for Evaluation of Health Technologies, AETSA, has released a report updating the map of genetic tests available in the Spanish National Health System.

This study aimed to update the information about the procedures and genetic tests included in the genetic services from each Autonomous Region Health System in Spain, contained in a previous report published in 2013.

Results

• Information related to genetic techniques and analysis was received from all the Autonomous Regions except for the Canary Islands and the Autonomous City of Melilla, resulting in a participation of 94.7%
• There is little variability among the Autonomous Regions regarding the performance of prenatal tests in amniotic fluid, peripheral maternal blood, and chorionic villi. On the other hand, there is a larger variability between the tests of postnatal studies. The most frequently performed are those of chromosomal abnormalities (especially 13, 18, 21, X and Y), sex determination, chromosome painting, chromosome reorganization, and genetic material loss, and gain
• Concerning techniques, karyotype, FISH, MLPA, conventional PCR, Multiplex PCR, and sequencing are available in almost every region
• A total of 1174 genetic test were available in the Basic Genetics Welfare Services in Spain, aimed to diagnose 787 diseases. The study of oncohematologic disorders are the most widely included
• Madrid, Castilla- León, Cataluña, and Andalucía, are the regions with the highest number of genetic tests included, while Castilla-La Mancha, Aragón and Murcia include the lowest number
• Regarding pharmacogenomics, 70 drugs which require a genetic test to use it were identified. Of these, 85 % are oncohematologic drugs. Finally, 850 genetic tests aimed to diagnose or manage rare diseases, available in our country were found

Conclusions

• The number of genetic tests performed in the Spanish Basic Genetics Welfare Services has doubled since 2013, and the number of diseases covered has increased by 75 %
• Similarly to 2013, all of 16 Autonomous Regions provide basic techniques for cytogenetic studies. All of them provide prenatal and postnatal genetic tests
• Despite some exceptions (Madrid, Castilla-La Mancha, Aragón and Murcia), the number of genetic tests included, correlates with the Autonomous Region population. The studies aimed to diagnose or manage oncohematologic disorders are the most frequently provided within the Spanish Basic Genetics Welfare Services
• Furthermore, common genetic diseases or disorders are widely covered
• The majority of drugs which require a genetic test to use it are oncohematologic drugs

See the report in Spanish with executive summary in English here.

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