August 2025 update of the Catalog of Genetic and Genomic Tests in Spain

In August 2025, the Common Catalog of Genetic and Genomic Tests of the National Health System in Spain was updated. The Catalog launched by the Ministry of Health in 2024 should guarantee that genetic and genomic tests listed within it are available to the population nationwide. Individual Autonomous Communities, which are responsible for the organization and provision of healthcare in their territories, should align their regional coverage policies with the national Catalog. 

Two sections, "Bone diseases, including craniofacial anomalies" and "Kidney diseases and urogenital disorders", were added, introducing a total of 140 new genetic tests targeting the respective conditions; some examples of clinical indications are provided below (studied genes or regions are shown in brackets):

• Achondroplasia (FGFR3);
• Levin-Sensenbrenner syndrome (IFT122, IFT140, WDR35);
• Autosomal dominant tubulointerstitial kidney disease (HNF1B, MUC1, UMOD, SEC61A1, REN);
• Genitopatellar syndrome (KAT6B);
• Hereditary amyloidosis with primary renal involvement (APOA1, FGA, GSN, LYZ, TTR).

In addition, six new tests were added to the section "Pediatric oncohematology"; as an example, a test for ALK-negative large B-cell lymphoma (ALK) was introduced.

The update also related to multiple tests in the areas of adult oncohematology, pediatric oncohematology, and hereditary metabolic and mitochondrial diseases: the description of the tests already included in the Catalog was enriched, including, in some cases, the detailing of the information on the genes or gene regions considered for specific pathologies in these areas. As an example, the following genes/gene regions were specified for defects in tryptophan metabolism: HAAO, KMO, KYNU, TDO2.

The full details in Spanish can be found here.

This news is just one of about 300 market access news collected by our team in the subscription services "HTA Alerts" and "Reimbursement Alerts" every two weeks from more than 80 organizations. Access our paid subscription services to stay on top of all developments specifically for your products in Europe (reimbursement news) and globally (HTA news). Contact us to get a free, three-month, no-obligation trial.