The Ministry of Health presents the new Common Catalog of Genetic and Genomic Tests of the National Health System
The catalog, which currently includes 672 tests, will continue to be progressively expanded due to its 'flexible' nature, with the commitment to ensure more homogeneous and equitable access to these tests for all patients in need.
On January 23rd, the Ministry of Health presented the new Common Catalog of Genetic and Genomic Tests of the National Health System (NHS). This is a significant step, as genetic and genomic tests currently play an essential role in the diagnosis and prognosis of major disease groups such as rare and oncological diseases. These tests are also used in other medical fields as a mechanism for selecting and monitoring optimal treatments, as well as a decisive factor in the reproductive area.
The update of the common portfolio of genetic services is included, as a transformative measure of the SNS, in Component 18 of the Recovery, Transformation, and Resilience Plan (PRTR). This includes an investment of 50 million euros, of which 23 million will be allocated to autonomous communities and Ingesa for expanding the catalog of genetic tests of the SNS through the purchase of necessary equipment; another 23 million for the information system supporting this network; and an additional 4 million euros for establishing a central node to ensure interoperability.
In 2022, 40 million euros were already distributed from compensatory measures resulting from the execution of the Collaboration Agreement between the General State Administration and Farmaindustria for financing the Program for the development of measures to improve the efficiency and sustainability of the SNS.
The first proposal of the catalog was approved by the Interterritorial Council of the National Health System (CISNS) on July 23, 2023. This proposal was born with the aim of ensuring more homogeneous and equitable access within the framework of the SNS to these tests for all patients in need.
The catalog has started with the first prioritized areas: Adult Oncohematology, Pediatric Oncohematology, Pharmacogenomics, Cardiovascular diseases and disorders of the circulatory system, Ophthalmological diseases, Hereditary and mitochondrial metabolic diseases, Neurological and neuromuscular diseases, and Neurodevelopmental disorders, including neurocognitive deficits. Currently, the catalog consists of 672 tests.
This catalog will continue to be progressively expanded with the addition of the remaining areas yet to be addressed. Health authorities emphasize that it is a "flexible project that will be expanded and modified over time."
A periodic update will be carried out through a process qualified by Health as "agile," taking into account the requirements that genetic or genomic analyses must meet to be included in the common services portfolio of the SNS.
In this way, Health has informed that in the second phase (first quarter of the year), skin diseases, digestive diseases (including hepatic diseases), renal and urogenital disorders, respiratory diseases, bone diseases (including craniofacial anomalies), and otorhinolaryngological diseases will be included. The third expansion phase (second quarter of the year) will add immunodeficiencies, autoimmune diseases, autoinflammatory and connective tissue diseases, endocrine diseases (including DDS), hereditary hematological diseases, fetal anomalies and fertility disorders, and other complex diseases not grouped in the previously mentioned categories.
A computer tool has been developed to support the catalog of genetic and genomic tests that are part of the common services portfolio. Under the name 'CGEN,' this platform's main mission is to make the catalog accessible to the public, professionals, health administrations, and interest groups.
This application will enable the public consultation of catalog information, as well as its update. There are plans to develop a genetic map that displays information regarding the distribution of authorized centers in Spain that perform each of the genetic tests and the quality criteria they must meet.
The implementation of this catalog represents a significant step in the fight against rare diseases, as highlighted by Juan Carrión, president of the Spanish Federation of Rare Diseases (FEDER), during its presentation. He denounced that 'only 20% of rare diseases are investigated,' thus advocating for the specialty of Clinical Genetics.
Currently, Spain is the only country in the European Union without a specialization in Genetics. While many hospitals have services, and genetics is used for the diagnosis and treatment of diseases, our country lacks an officially recognized specialization in Clinical Genetics that regulates the profession.
'The common catalog of genetic tests is the map representing the territory we are navigating, but the map needs the complement of the compass. This complement is what makes the development of the genetics specialty necessary so that we can navigate this sea with specific professionals,' stated the Secretary of State for Health, Javier Padilla.
From AseBio, we positively value the forward step that this catalog represents as a boost to precision medicine and advanced diagnostics at the national level.