Early detection of rare diseases has become a strategic priority in several Spanish healthcare systems, with Andalusia and Castilla-La Mancha being two of the regions making the most visible progress. Through new plans, advanced genetic screening, and pilot projects for whole-genome sequencing in newborns, the authorities are seeking to shorten diagnosis times and improve treatment options with orphan drugs funded in Spain.
These initiatives aim not only to strengthen newborn screening programs and genetic testing , but also to offer more comprehensive care to patients and their families, with multidisciplinary consultations, telemedicine tools, and closer coordination with research. All of this with a clear objective: to ensure that those living with a rare disease are no longer the forgotten victims of the healthcare system.
Andalusia strengthens early detection with a new plan for rare diseases
The Andalusian Regional Government has presented a revised Plan for the Care of People Affected by Rare Diseases, updating the strategy initiated in 2008 and adapting it to current scientific and technological advances. The program targets approximately half a million Andalusians suffering from rare diseases and places particular emphasis on the early diagnosis of hereditary conditions.
The Andalusian president, Juanma Moreno , explained at the Virgen del RocÃo University Hospital in Seville that the plan will have an investment of over 8,5 million euros until 2029. This funding will be used, among other things, to expand screening programs, introduce advanced tests for the detection of genetic disorders , and create coordinated care centers for these patients.
As the regional government explained, the program aims to ensure that people with rare diseases are not invisible to the healthcare system or society as a whole. To this end, it focuses on strengthening the resources of professionals already working in this field and improving referral pathways so that diagnoses are made earlier and more accurately.
The plan stems from a fact acknowledged by health authorities: a large proportion of rare diseases have a genetic origin and manifest themselves at early ages, so detecting alterations as early as possible can make a difference in prognosis, quality of life and access to specific therapies.
Moreno insisted that the initiative was designed "by and for patients" and stressed the need to address these pathologies with sensitivity, empathy and a long-term vision, not limited solely to the specific medical act in the consultation.
Advanced genetic testing and expanded screening in the Andalusian system
Among the most noteworthy measures of the new Andalusian plan is the incorporation of cutting-edge genetic diagnostic techniques to identify rare hereditary diseases earlier. This aims to go beyond traditional biochemical screenings and integrate tests capable of detecting genetic variants that can lead to serious but treatable pathologies if addressed in time.
The Andalusian Health Service has begun expanding its newborn and prenatal screening programs , including new conditions in the well-known heel prick test and broadening the range of tests available for pregnant women with risk factors. Furthermore, it plans to increase preconception counseling in primary care to assess medical history and potential genetic risks before pregnancy.
Another area of ​​focus is improving the management of clinical information : requests for genetic testing will be integrated into the electronic health record, making it easier for healthcare teams to have all the relevant data without duplicating tests or wasting time on paperwork. Telemedicine is also seen as a key tool for bringing specialized care to areas without referral centers.
The Andalusian plan is not limited to already diagnosed diseases. It includes specific actions for undiagnosed cases , a large group of patients who have been undergoing tests for years without a clear answer. The intention is to strengthen protocols for these complex cases and facilitate their referral to highly specialized teams in genetics and rare diseases.
In parallel, the community maintains a network of 23 reference centers specializing in rare diseases , in addition to specialized regional units. The current strategy aims to consolidate and coordinate this network, so that patients can navigate the system with fewer administrative barriers and less fragmentation of care.
Multidisciplinary consultations and comprehensive support for families
One of the recurring elements in the Andalusian initiative is the creation of multidisciplinary consultations in which professionals from different fields converge in the same structure: medical specialists, nursing staff, psychology, social work and even educational profiles when the situation requires it.
The aim is for patients and their families to receive the most comprehensive response possible through a single pathway , avoiding unnecessary trips between services and reducing waiting lists for key tests and assessments. These units seek to integrate healthcare, social, and educational aspects, with a particular focus on employment and school inclusion.
The plan also includes specific programs for undiagnosed diseases , as well as the updating of genetic protocols and the incorporation of new professional profiles into the public portfolio, such as podiatry, to address specific complications linked to certain rare pathologies.
The regional government emphasizes that improved care cannot be separated from emotional and psychological support . Many families endure years of uncertainty, financial burden, and personal strain, so plans are underway to strengthen mental health resources and support services both during the diagnostic process and in the treatment and follow-up phases.
To ensure the measures are not merely theoretical, the program will have a monitoring team that will oversee its implementation, evaluate results, and maintain constant communication with patient associations and sector entities. This body will be responsible for identifying problems in the plan's practical application and proposing adjustments when necessary.
GENEBORN Project: Neonatal Genomic Screening in Spain
While Andalusia strengthens its regional strategy, the University Hospital of Toledo participates as an associated group in the GENEBORN Neonatal Genome Project , a state-level initiative that aims to integrate genomic screening into neonatal care within the National Health System.
This pilot project, coordinated by the Biomedical Research Networking Center for Rare Diseases (CIBERER) and funded by the Ramón Areces Foundation , involves whole-genome sequencing (WGS) of just over 1.000 newborns . The aim is to assess whether this screening model allows for the early detection of actionable genetic diseases , many of them rare, before symptoms appear.
The Genetics Department at the Toledo center, headed by Carles de Diego , participates alongside a multidisciplinary team that includes medical geneticists, neuropediatricians, neonatologists, and pharmacogenetic specialists. Their work is twofold: first, to apply sequencing technology, and second, to translate that information into useful clinical decisions for monitoring newborns.
The major innovation of GENEBORN lies in its ability to analyze hundreds of genes associated with serious but treatable diseases ( if detected early) using a single technique. According to project data, 481 genes linked to 508 actionable diseases , many of them metabolic, will be studied. There are approximately 183 drugs available for these diseases that could improve the prognosis.
This approach aims to go beyond traditional biochemical methods, offering broader and more detailed information. Furthermore, pharmacogenomics is emerging as a key tool for better tailoring treatments and reducing adverse drug reactions, a problem that translates into additional consultations, hospitalizations, and preventable complications.
From IMPaCT to 1 Million Genomes: connecting with Europe and precision medicine
GENEBORN did not emerge from nothing, but rather leverages the infrastructure created for the IMPaCT project , promoted by the Carlos III Health Institute to deploy genomic medicine within the National Health System. This previous initiative focused on the genomic diagnosis of rare diseases in adults and children, generating tools, databases, and protocols that are now being reused for newborn screening.
Furthermore, the project maintains a clear European focus. One of its objectives is to establish networks with other international centers developing similar programs, which will allow for the sharing of information on rare diseases, emerging treatments, and poorly described genetic variants.
In this context, Spain is also participating in the European megaproject 1 Million Genomes , which aims to gather the genomic information of one million European citizens to deepen our understanding of the human genome and facilitate the development of new therapies. The idea is that the data generated will be used for medical and scientific purposes, always under strict ethical and data protection standards.
Similar initiatives have already been launched in other countries, such as BabySeq and Guardian in the United States, and The Newborn Genomes Research project in the United Kingdom, which aims to sequence the genomes of 100.000 newborns . The goal of these programs is to assess whether genomic screening can eventually replace traditional metabolic screening, something that the proponents of GENEBORN consider increasingly likely.
To move forward in this direction, a thorough review by ethics committees and the development of highly detailed informed consent forms, aligned with Spanish and European data protection regulations, have been necessary. Only genes with a high level of scientific evidence and high penetrance are analyzed, and only variants classified as pathogenic or probably pathogenic, following the criteria of the American College of Medical Genetics and Genomics, are reported.
Taken together, the initiatives launched in Andalusia and genomic projects like GENEBORN demonstrate how the Spanish healthcare system is taking firm steps to ensure that the early detection of rare diseases ceases to be an exception and becomes part of standard clinical practice. From expanding screenings and genetic testing to creating multidisciplinary clinics and connecting with European precision medicine networks, everything points toward a model in which diagnosis is earlier, treatment is more tailored, and families feel less alone when faced with conditions that, although rare, have an enormous impact on their daily lives.
