In January 2025, Spain’s National Health System took a significant step forward in advancing precision medicine with the update of itsCommon Catalogue of Genetic and Genomic Tests. This update introduced a new section that focused on Respiratory Medicine, adding 29 genetic tests for a variety of respiratory conditions. These tests address diseases such as primary ciliary dyskinesia, cystic fibrosis, idiopathic pulmonary arterial hypertension and lymph angioleio myomatosis (LAM). This addition brings the total number of tests in the catalogue to 701, further strengthening Spain’s commitment to integrating genetic testing into routine clinical care.
The inclusion of these tests is a direct response to the growing recognition that respiratory diseases often have a significant genetic component. Many of these conditions, such as pulmonary interstitial disease related to surfactant proteins, can present diagnostic challenges due to overlapping symptoms with other respiratory disorders. Genetic testing provides a much-needed tool to pinpoint the root cause, enabling more precise diagnoses and targeted interventions.
Respiratory diseases are among the most complex conditions to diagnose and manage, often involving a combination of genetic predispositions, environmental factors and lifestyle influences. The introduction of genetic tests in the catalogue offers transformative potential for healthcare by enabling:
Early Detection and Diagnosis: Genetic testing allows for the identification of mutations long before clinical symptoms manifest. For example, detecting mutations in the CFTR gene can confirm a diagnosis of cystic fibrosis, even in newborns, allowing early interventions that significantly improve long-term outcomes.
Precision Diagnosis: Many respiratory diseases share similar clinical presentations, such as chronic cough or shortness of breath. Genetic testing helps differentiate between phenotypically similar conditions. For instance, it can distinguish idiopathic pulmonary arterial hypertension (IPAH) from other forms of pulmonary hypertension by identifying mutations in the BMPR2 gene, which is often implicated in heritable cases.
Targeted Treatment Strategies: Understanding the genetic basis of a condition enables clinicians to tailor treatments. In diseases likeLAM, which is linked to mutations in the TSC1 and TSC2 genes, genetic testing can inform decisions about mTOR inhibitors, a targeted therapy that directly addresses the underlying genetic pathway.
Family Screening and Prevention: Genetic conditions often have implications for family members. The catalogue’s new tests allow for the identification of carriers and at-risk individuals, enabling family members to seek preventive care or early screening.
The inclusion of these new tests reflects significant advancements in genetic research and a rigorous pathway of scientific validation and regulatory approval. The process involves several critical steps:
- Comprehensive Research: Advances in genetic sequencing and genome-wide association studies (GWAS) have been instrumental in identifying mutations linked to respiratory diseases. For example, surfactant protein gene mutations have been associated with certain forms of pulmonary interstitial disease, highlighting the importance of genetic markers in rare lung conditions.
- Clinical Validation: Before these tests were added to the catalog, they underwent extensive validation to ensure their accuracy and reliability. This includes analytical validity (how well the test detects mutations), clinical validity (how well the mutation correlates with the disease) and clinical utility (how the results improve patient care).
- Multidisciplinary Collaboration: The update reflects input from geneticists, pulmonologists, bioinformaticians and patient advocacy groups. This collaborative effort ensures that the tests address real-world clinical needs and provide tangible benefits to patients.
- Regulatory Approval: Navigating the regulatory landscape is a critical step. The tests were rigorously evaluated to meet Spain’s high standards for inclusion in the Common Catalog, balancing innovation with practicality.
Genetic Tests vs. In Vitro Diagnostics (IVDs)
While genetic tests and in vitro diagnostics (IVDs) are both included in Spain’s Common Catalogue, they serve distinct purposes and offer complementary benefits in clinical practice.
Genetic tests primarily focus on identifying inherited mutations and predispositions, offering long-term insights into a patient’s condition. These tests are often used for diseases with a clear genetic basis, such as cystic fibrosis or methylmalonic acidemia with homocystinuria (type cbIC). They rely on technologies like next-generation sequencing (NGS) and polymerase chain reaction (PCR), enabling the analysis of multiple genes or even entire genomes.
In contrast, IVDs are typically used for detecting biomarkers, pathogens, or analytes in biological samples such as blood or sputum. They are crucial for real-time diagnostics and acute decision-making. For example, an IVD might confirm an active bacterial infection or measure levels of specific proteins in the bloodstream. By integrating both types of diagnostics, Spain’s healthcare system ensures a comprehensive approach to disease management, addressing both the genetic and non-genetic aspects of conditions.
This update to the Common Catalogue has far-reaching implications for both patients and the healthcare system:
- Advancing Precision Medicine: By incorporating these tests, Spain is embracing a more personalised approach to healthcare, where treatments are tailored to the genetic profile of individual patients.
- Reducing Diagnostic Delays: Genetic testing addresses the diagnostic odyssey often faced by patients with rare diseases, offering faster and more accurate answers.
- Improving Resource Allocation: Early and precise diagnoses can prevent unnecessary treatments and hospitalisations, optimising healthcare spending.
- Empowering Families: The ability to screen for hereditary conditions enables families to make informed decisions about their health.
The January 2025 update to Spain’s Common Catalogue of Genetic and Genomic Tests marks a pivotal moment in the integration of precision medicine into routine healthcare. By adding a dedicated section for respiratory diseases, the catalogue addresses critical gaps in the diagnosis and management of these complex conditions. This update not only reflects advancements in genetic science but also highlights Spain’s commitment to equitable access to cutting-edge diagnostics. The result is a more efficient, patient-centred healthcare system that stands at the forefront of innovation.
For further details, the full catalogue can be accessed here.