NAGEN

• This is the NAGENdata initiative, financed by the Government of Navarra, which will allow the SNS-O to promote personalized and precision medicine in Navarra

The Navarrabiomed biomedical research centre leads the implementation of the NAGENdata project, which aims to develop an infrastructure for sharing genomic data associated with the Navarra Genome Program (NAGEN Program) under criteria of privacy, security, sustainability and circular economy. This initiative in personalized medicine, financed by the Government of Navarra, will also contribute to promoting the health of citizens and promoting health research with a gender dimension.

During its three years, a total of more than 40 professionals with multidisciplinary profiles and links to seven entities will participate: Hospital Universitario de Navarra (HUN), Universidad Pública de Navarra (UPNA), ADItech (coordinator of the R&D&I system in Navarra), the public company NASERTIC, the companies Ysium Medical and Data Value Management, and Navarrabiomed - Fundación Miguel Servet as project leader. The latter will coordinate the participation of professionals from the Genomic Medicine Unit and Biobank at Navarrabiomed and the teams involved from the Medical Genetics, Neurology and Anatomical Pathology Departments at the HUN.

NAGENdata will create a specialized infrastructure that will allow healthcare and research professionals to remotely access and interact with anonymised genomic and clinical data, and will allow connections to similar national and international repositories. In addition, it is expected that the infrastructure will host tools that would allow connection from the SNS-O in the future, thus promoting the reuse of these data for healthcare purposes. The project will also be available to the general public, since they will be able to access a simplified version of the general data contained on the platform. All this within a framework of compliance with the law and guarantee of patient privacy.

Data associated with the NAGEN program 

NAGENdata follows the guidelines of the new European Health Data Space (EHDS) of the European Commission and the Comprehensive Personalized Medicine Strategy of the Government of Navarra, which recognize the reuse of genomic data as an essential tool for producing value-added results for healthcare, research and economic development from translational research projects. 

Navarrabiomed has been developing the NAGEN Program since 2016, and it is also funded by previous calls for the GEMA challenge, which has aimed to implement the use of highly complex genomic sequencing in the SNS-O. Specifically, the program has resulted in six strategic projects that have collected nearly 3000 patient genomes and exomes, clinically interpreted together with their associated clinical and phenotypic descriptors in different health scenarios: diagnosis of rare diseases (NAGEN1000), pharmacogenetics (PharmaNAGEN), complex common disease (NAGENCOL), acute and emergency healthcare in paediatrics (NAGENpediatrics), personalised prevention and population health (NAGEN-Mx), and infertility and reproductive medicine (ReproNAGEN). 

These projects have allowed the development and consolidation of methodologies, processes and infrastructure necessary for the development of cutting-edge technology in Navarra and have provided necessary clinical evidence on the multiple uses of genomic medicine in the SNS-O. All of this has allowed Navarra to become an example of regional development in personalized medicine at the European level. 

Virginia García Solaesa, specialist in the Medical Genetics Department at the Hospital Universitario de Navarra, is part of the Genomic Medicine Unit at Navarrabiomed – Miguel Servet Foundation as Principal Investigator of NAGENdata and coordinator of the project consortium. García stresses the added value provided by this collection of data: “Thanks to the professionals involved, the Government of Navarra and the collaboration of the people who have participated in previous NAGENs, we have a collection of data of great scientific value. It is time to make it available to the scientific community and to the patients themselves, to the general public, with all the guarantees regarding their privacy and security; so that it can give back to the system and lead to the development and optimization of new therapies and drugs.” 

NAGENdata is part of the call for grants to carry out Strategic R&D Projects in the field of personalized medicine of the Government of Navarra 2023 from the the Department of Industry and Ecological and Business Digital Transition of the Government of Navarra, as part of the GEMA VII challenge, and has received a contribution from the Government of Navarra of 830,813 euros.  
 

• The training, which has been developed within the framework of the European IRIS EDIH project, has also addressed the ethical and legal challenges of genomic medicine.

More than 70 healthcare professionals and representatives of private companies and SMEs, as well as people involved in biomedical research, have participated in the course on genomic information interpretation and management "Genomics in Clinical Practice and Biomedical Research", organized within the framework of the Navarra IRIS Digital Innovation Hub and the IRIS EDIH European project by Navarrabiomed and the University of Navarra.

During the opening of the conference, Diego Garrido, managing director of ADItech the coordinating entity of the IRIS EDIH project, has insisted on the importance of this type of course aimed at all parties involved in the development of personalized medicine in Navarra. In addition, he highlighted “the great opportunity that the advanced personalized medicine services offered by the EDIH with up to 100% financing represent for SMEs and the Administration”. 

In this regard, Estefanía Huergo, postdoctoral researcher of the Translational Bioinformatics Unit of Navarrabiomed and Marta Pozuelo, bioinformatics of the computational biology and translational genomics program of the Cima University of Navarra, both in charge of the course, have stressed that “nowadays, it is essential to achieve an interdisciplinary understanding of genomics and incorporate genomic studies in the clinical field, research and the private health sector with the aim of improving health, personalizing treatments and advancing in scientific knowledge.”

The course has made it possible to provide participants with a comprehensive view of the impact of genomics on medical care and biomedical research, alternating theoretical modules on the basic concepts of genetics and genomics, the ethical and legal challenges of genetic counselling or on genomic research. On the other hand, more practical modules have been available on tools and resources for the interpretation of genomic data analysis, the resolution of clinical cases and discussions on real cases and the current state of genomics. 
Maite Mendioroz, director of Navarrabiomed, concluded the conference by recalling the pioneering role of Navarrabiomed in the development of personalized medicine in Navarra, with the  NAGEN program, a strategic initiative promoted by the Government of Navarra to implement genome analysis in the clinical practice of the Navarra Health Service-Osasunbidea. Likewise, Navarrabiomed leads the Precision Medicine Infrastructure associated with Science and Technology in Navarra (IMPaCT), coordinated by the Carlos III Health Institute. It is considered the first step of the new Spanish Strategy of Personalized Medicine and is structured in three programs: Predictive Medicine, Data Science and Genomic Medicine.

Digital transformation services for Personalized Precision Medicine

The Digital Innovation Hub of Navarra, within the framework of the Digital Europe program, has been selected by the European Commission to be part of the first network of European Digital Innovation Hubs (EDIHs). This incorporation allows IRIS to act as a catalyst for digital transformation by offering its specialized services in Artificial Intelligence, Supercomputing and Personalized Precision Medicine to companies and public entities at regional, national and European levels.
Navarrabiomed also offers consulting and advisory services to accompany the digital transformation process in the personalized medicine sector: Analysis and identification of endpoints - Health; Knowledge generation based on Clinical History; Standardized System of Medical Records, Screening and stratification of patients through the use of  machine learning tools. These services are provided, through IRIS, from the Methodology and Bioinformatics units.

A group of representatives from the clinical and research field of the Basque Country has visited Navarrabiomed to learn first-hand about the NAGEN strategic initiative. The group has been able to find out the origin of the NAGEN Programme and the implementation of the internal circuits and infrastructures for the implementation of genome analysis technology in the Navarra healthcare system.

Specifically, on behalf of Osakidetza: Nekane Murga, Director of Precision Medicine and Leire Otaolea, head of Clinical Management - Genetic Analysis of Álava. From the Basque Foundation for health innovation and research BIOEF Sergio Cardoso, responsible for the Innosasun Programme, attended and from the Biocruces Health Research Institute the manager Mª Luz de Valle attended; Eunate Arana, scientific coordinator; Esther Sarasola, member of the Genetics-Genomics Platform; Edorta Ander Pérez García, from the infrastructure team and Xabier Elcoroaristizabal, coordinator of the Genetics-Genomics Platform. 

Edurne Echeverría and Angel Alonso, responsible for the management and IP office of Genomic Medicine of Navarrabiomed respectively, have been in charge of explaining the programme and the six projects that compose it for the development of genomic medicine in the Navarra Health Service – Osasunbidea (NAGEN 1000, pharmaNAGEN, NAGENCOL, NAGEN PEDIATRICS, NAGEN Mx and ReproNAGEN)

Likewise, also present was Gonzalo Rodríguez, Director of Personalised Medicine and Laboratories of NASERTIC, a public company that participates in the NAGEN Programme for the development of the massive sequencing of each of the projects.

After the meeting, the group was able to visit the Genomic Medicine laboratories and also learn about the equipment and projects developed by the scientific-technical service of Proteomics led by Joaquín Fernández. 

This meeting has served as an exchange of good practices between autonomous communities and opens the doors to future institutional collaborations. 

Within the framework of the call for Strategic R&D Projects, and led by Navarrabiomed, it aims to identify the genetic alterations causing severe hypercholesterolemia.
 

The Department of Economic and Business Development of the Government of Navarra has financed, under the Strategic R&D projects, with 1.4 million euros the project NAGENCOL which allows advancing the knowledge of the use of genome-wide analysis technology and thus to identify the genetic alterations causing severe hypercholesterolemia and markers of response to treatments using this technique.

The General director of Industry, Energy and Strategic Projects S4, Uxue Itoiz, has visited Navarrabiomed to get to know the results of the NAGENCOL project, together with the director of the strategic projects service S4, Delia Sola; the project manager of Navarrabiomed, Jorge Marín; the researcher of the University Hospital of Navarra-Navarrabiomed, Ángel Alonso; the member of the TRACASA Instrumental R&D&i team, Pablo Vega; the NASERTIC R&D&i project manager Gorka Las Heras, as well as other members of the project development team.

This initiative is part of NAGEN, a program that aims to implement the analysis of the human genome in the public health network of Navarra. As they have explained from the Genomic Medicine Unit of Navarrabiomed, “every person contains thousands of genetic variants in their DNA, some of them being important for health. Having this information will allow clinicians to help in the diagnosis and treatment, not only of a specific disease such as familial hypercholesterolemia, but of other diseases that may develop throughout the patient's life”. Currently, NAGENCOL has completed its development phase and the objective, from now on, is to extend all its benefits to all patients with SNS-O hypercholesterolemia.

This project evidences the benefits of personalized medicine in the detection and prevention of diseases, "positioning Navarra at the forefront of these advanced therapies”. Its development, carried out over 3 years, has been implemented through a consortium in which the Miguel Servet Foundation–Navarrabiomed, the Navarra Health Service-Osasunbidea, NASERTIC and TRACASA have participated. This joining of forces highlights the importance of the triple helix of knowledge. On the one hand, with the participation of technological and knowledge centres, on the other, the economic sector with the participation of companies and, finally, the involvement of the Administration that has the ability to support sequencing thanks to the NASERTIC supercomputing centre.
 
Study results

Familial hypercholesterolemia is a major public health problem, since cholesterol is the cause of 22% of coronary events in the world and most of them could be avoided with an early diagnosis and proper treatment. The lives of untreated familial hypercholesterolemia patients are shortened by about 25 years on average and 50% of them will suffer a heart attack before the age of 55. In addition, there are approximately 1500-2500 people with this disease in Navarra, and less than 20% of them are aware of this.

NAGENCOL arises from a study of the genome in 507 patients with familial hypercholesterolemia or with LDL cholesterol levels above 190mg/dL. In 62.7% of patients it has been possible to identify a genetic alteration causing the elevation of cholesterol and in 31.1% the presence of a genetic alteration that justifies a poorer response or greater probability of side effects with the usual pharmacological treatments. It has also been possible to study which genetic variants confer a higher cardiovascular risk and therefore those patients who should have a more intensive follow-up are identified. In addition, detection has made it possible to identify affected relatives to whom early treatment can be offered to improve their prognosis.
The study has also managed to identify and characterize new (early and progression) protein biomarkers, to improve the prevention of cardiovascular diseases, one of the main causes of death in Navarra.

Once the study phase is completed, the objective is to extend all these benefits to all patients with SNS-O hypercholesterolemia. To this end, algorithms are being developed that help the clinician to more easily identify patients with hypercholesterolemia more likely to have a genetic cause, as well as others that improve the estimation of cardiovascular risk and therefore facilitate the follow-up of those at higher risk.
The project is part of the call for Strategic R&D Projects carried out annually by the Department of Economic and Business Development. This call encourages the implementation of projects with high innovative impact that are aligned with the sectors identified in the Smart Specialization Strategy (RIS4) of Navarra. Specifically, the NAGENCOL project is included in the GEMA (genomics and advanced medicine) challenge.
 

The ReproNAGEN project partners have met to start the work of this project whose objective is to identify new causes and solutions for infertility of genetic origin and the prevention of serious genetic diseases in new-borns.

The first meeting of the ReproNAGEN consortium took place last Friday at Navarrabiomed headquarters. This new initiative aims to study the impact of human genome analysis on the diagnosis and treatment of couples with fertility problems by creating a personalized diagnostic algorithm and therapeutic circuit based on the study of the complete parental genome. The consortium of the project is formed by the University Hospital of Navarra (HUN), the company NNBi, and the Navarrabiomed biomedical research centre, which leads and coordinates its development. Together, they form a complete team of professionals from very different fields, involved in the use of genomic data for health and development purposes, working jointly to make this project a reality.

It should be noted that approximately 1 in 6 people worldwide suffers from fertility problems during their reproductive life, some 48 million couples. The usual protocols for the diagnosis of fertility problems and repeated abortions are often ineffective since the problem persists in a relevant proportion of couples with idiopathic sterility or with repeated abortions of unknown cause. 

One of the main limitations of in vitro fertilization treatments is the existence of hormonal alterations that hinder the interaction of the embryo with the endometrium, necessary for implantation. The ReproNAGEN project aims to analyse, through genetic sequencing, the cause or set of genetic causes underlying human infertility problems, specifically those related to poor embryo quality manifested in the form of recurrent implantation failure and repeated abortions.

ReproNAGEN has a budget of 1.3 million euros, financed by the General Directorate of Industry, Energy and Strategic Projects S4, of the Department of Economic Development, through the call for aid for strategic R&D projects promoting the implementation of high-impact initiatives that are aligned with the sectors identified in the Smart Specialization Strategy (RIS4) of Navarra.

NAGEN Program

Since the year 2016 Navarrabiomed leads the Navarra Strategy in Genomic Medicine of the SNS-O (NAGEN). Since then, and thanks to the support of the Government of Navarra, the centre has promoted the development of five strategic projects: NAGENMx, NAGENCOL, NAGENPediatrics, Pharmanagen and NAGEN1000. The common denominator of all these projects is the use of the information contained in the human genome to improve the management and treatment of SNS-O patients. The information contained in the genome intersects with other aspects of the pathology and with the information contained in the clinical history. The combination of these sources of information, namely, genomics and clinical, has made it possible to pinpoint the causes of some diseases, make more precise diagnoses or modify patient management towards a more effective treatment.

These initiatives, together with ReproNAGEN, are making it possible to implement the necessary infrastructures in the SNS-O healthcare circuit so that the information contained in the genome can be used as a method for the diagnosis and treatment of diseases. 
 

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Caption
Jesús Zabaleta, Coordinator of the Assisted Reproduction Unit of the University Hospital of Navarra - principal investigator of the project, Amaia Martínez Carrasco, Obstetrics and Gynaecology Service of the HUN, Ángel Alonso, director of the NAGEN program and Principal investigator of the Genomic Medicine Unit of Navarrabiomed and Beatriz Orduña Navarrabiomed project management. Onintza Sayar from the company NNBi participated online.

The project, coordinated from the Genomic Medicine Research Unit of Navarrabiomed by Juan José Beloqui Lizaso, in collaboration with the Pharmacy Service of the HUN, has been acknowledged in the international awards granted by ICPerMed. 

Medicina Genómica y Bioinformática Traslacional de Navarrabiomed.

The International Consortium for Personalized Medicine (ICPerMed), has awarded "PharmaNAGEN" ‘Best International Practice in Personalized Medicine’ for its work in the implementation of genomic medicine in healthcare practice. The project aims to implement Pharmacogenetics in the Public Health System and professionals from the Pharmacy Sub-directorate, the Digestive and Haematology Services of the HUN and from the Innovation and Organization Section of the Navarra Health Service-Osasunbidea, as well as from the Genomic Medicine and Translational Bioinformatics Units of Navarrabiomed.

Juan José Beloqui Lizaso, specialist doctor of the HUN Pharmacy Service, Navarrabiomed researcher and coordinator of ‘PharmaNAGEN’, will collect the award on June 21st at a meeting organized by the consortium in Brussels, which internationally recognizes the initiative.
PharmaNAGEN has been awarded 1.5 million by the General Directorate of Industry, Energy and Innovation, of the Department of Economic Development, within the framework of the S4 Smart Specialization Strategy. The project is part of the NAGEN program, that pursues the advancement in the knowledge and use of genomic analysis technology in the public health network of Navarra, together with NAGENMx, NAGENCOL, NAGENPediatrics and NAGEN1000, the latter also recognized in 2020 in the awards granted annually by ICPerMed. 

Promoting precision medicine in SNS-O

PharmaNAGEN has worked on obtaining the individual pharmacogenetics profile that makes us unique in relation to the efficacy and toxicity of drugs. In this regard, the project has created a prescription assistance tool that, based on this profile, will offer recommendations to clinicians that help to individualize pharmacological therapies. This has been possible thanks to the development of tools and procedures for obtaining that genetic profile in a simple way through mass sequencing techniques and the systematic review of the scientific literature and the main guidelines to choose those most effective and adapted to the reality of the Foral Community. In all, the pharmacogenetics profile of 274 patients and 114 recommendations have been obtained for 52 commonly used drugs.

About ICPerMed

The International Consortium for Personalized Medicine, ICPerMed, brings together more than 30 international partners, mainly European, and is funded by the European Commission. Its main objective is to promote joint initiatives in personalized medicine and encourage research.
 

The IMPACT TEA program, promoted by the Carlos III Health Institute in the Strategic Health Action call, plans to recruit a total of 1,000 patients from 6 Autonomous Communities, including Navarra.

With the aim of fostering translational research and advancing the understanding of the genetic basis of autism, the Carlos III Health Institute (ISCIII) has promoted, within the framework of the National Strategy for Precision Medicine, the IMPACT TEA program, in which the University Hospital of Navarra and the Biomedical Research Centre of Navarra, Navarrabiomed, take part. The research is funded with 3 million within the Strategic Action in Health (AES) projects.
The study, which is entitled "Comprehensive study of genetic and molecular variation of Autism Spectrum Disorders”, has recently started and is led by the Gregorio Marañón Hospital from Madrid. In addition to the Navarrese entities, it has the participation of the Virgen de Arrixaca University Hospital from Murcia, the Virgen del Rocío Hospital of Sevilla, the Hospital Clinic of Barcelona and the University Complex of Santiago/Public Foundation for Genomic Medicine from Galicia.
It should be noted that tomorrow is the World Autism Awareness Day, which this year will address inclusive education in the context of the Sustainable Development Goals, specifically the 4th: ensure inclusive, equitable and quality education and promote lifelong learning opportunities for all.
 
Features of the research

Despite being a very common disease with a prevalence in Europe of 1 in 100 and that continues to increase thanks to better detection, the studies on autism carried out so far are inconclusive and their genetic bases are still unclear. Currently, clinical practice applies a standardized diagnostic protocol with multiple complementary tests, however, in a high percentage of children with ASD (around 70-80%) the cause of autism is not known.
The IMPACT TEA program aims to recruit a total of 1,000 children coming from 6 Autonomous Communities, a sample size that generates scientifically based knowledge transferable to clinical practice.
The aim of the study is to create genetic diagnostic algorithms that can be used for facilitating and speeding up decision-making in the healthcare process, incorporating a variety of diagnostic tests into the national health system, selected based on the foreseeable diagnostic performance for each patient on an individualized basis.
In Navarra, the project is formed by a multidisciplinary team composed of neuropaediatricians, psychiatrists and psychologists from the public health network of Navarra, and staff from the Genomic Medicine Unit of Navarrabiomed.
To carry out the research a sample of 160 patients under the age of 16 with ASD will be recruited from the neuropediatric consultations of the HUN, with suspected genetic basis associated with different comorbidities. Whole genome sequencing will be applied to all of them, a novel technique that allows sequencing the entire genome of the individual at once, obtaining information to better understand the genetic bases of this disease.
"The progress in research will allow us to move forward to avoid, for both the child and his or her family, an interminable amount of tests and interventions”, explains Nerea Gorría Redondo, neuropaediatrician of the HUN and Principal Investigator of the project, referring to the progress made by whole genome sequencing in rare diseases compared to the performance of complementary tests that are usually performed, including specific genetic tests guided by a clinical suspicion, often a trial and error process that can be prolonged in time without obtaining results.
“This type of analysis can help us to refine the genetic cause more precisely and earlier, thus impacting on the improvement of prognosis and the prevention of comorbidities”, concludes Gorría.
 
Towards precision personalized medicine

The IMPACT TEA study emerged from the NAGEN Pediatrics project, an initiative started in 2020 that, thanks to the application of whole genome sequencing, is making it possible to shorten diagnosis times in children with different genetic diseases that are difficult to diagnose (sometimes years) to 2-3 weeks, currently, in a significant percentage of cases. 
In turn, NAGENPediatrics is part of the NAGEN program, which pursues the advancement in the knowledge and use of genomic analysis technology in the public health network of Navarra, together with NAGEN1000, PharmaNAGEN, NAGENMx and NAGENCOL. Led by Navarrabiomed, the NAGEN Program is supported by the Department of Economic and Business Development of the Government of Navarra, within the framework of the Smart Specialization Strategy (S4).

•   The healthcare pathway has been implemented as a result of the pilot initiative NAGENPediatrics.

Genomic sequencing in pediatric patients is transitioning from the realm of research to clinical practice, thanks to the coordination between the Genetics and Pediatric Departments, and the Management of the University Hospital of Navarra. Leading this initiative is Josune Hualde, a pediatrician at the University Hospital of Navarra and researcher at the Genomic Medicine Unit of the biomedical research center Navarrabiomed.

Between 2020 and 2022, Navarrabiomed spearheaded the NAGENPediatrics project, aimed at integrating the use of genomic analysis technology in pediatric patients within the Navarre Health Service (Osasunbidea).

Throughout 2023, infants up to four months old who are born with a high suspicion of genetic disease or have tested positive in the traditional heel-prick screening will benefit from this advanced technique. This methodology will enable the identification of altered genomic variants, thereby facilitating early and accurate diagnoses of genetic diseases.

The major advantage of this pathway is the exceptional speed at which highly significant genomic results are obtained, thus enabling the early implementation of personalized treatments and the integration of multidisciplinary care. A comprehensive treatment plan, which is personalized and agreed upon, can be established, ensuring ongoing care and follow-up.

The NAGEN Pediatrics project, part of the NAGEN Program, was selected for funding in the call for strategic R&D projects by the Department of Economic and Business Development in 2020. The project received funding amounting to €1,450,819 for its development and implementation between 2020 and 2022. With the support from this department of the Government of Navarra, NAGENPediatrics has allowed the testing of whole-genome sequencing technology in the Navarre Health Service (Osasunbidea), which will now be effectively incorporated into the healthcare portfolio outside the project itself.
 

Clinical care pathway established at the University Hospital of Navarra (HUN)

Ainhoa Iceta and Alberto Valiente, heads of the Pediatric and Genetics Departments, respectively, along with the HUN management team, have worked in coordination to facilitate the implementation in clinical practice. “These accurate and early diagnoses will have a direct impact on families by reducing the 'diagnostic odyssey' traditionally faced by families and promoting a more sustainable healthcare system by avoiding unnecessary tests or treatments,” says Iceta.

For Hospital Management, the transfer of knowledge gained from this research to the clinical care of patients helps progress towards the development of more precise medicine, more efficient resource utilization, and higher quality healthcare for the patient and their family.

NAGENPediatrics Project

NAGENPediatrics, led by the biomedical research center Navarrabiomed, has sequenced the genomes of 758 individuals from 266 participating families and has enabled genetic diagnosis in one-third of the studied children, with an average turnaround time of 18 days.
NAGENPediatrics is part of the NAGEN Program, an initiative developed by Navarrabiomed since 2016 and funded by the Government of Navarra, aiming to implement genome sequencing and analysis in specific individuals and pathologies within the SNS-O (Navarre Health Service).

From left to right: Maite Mendioroz (Navarrabiomed), Alberto Valiente (Genetics, HUN), Ainhoa Iceta and Josune Hualde (Pediatrics, HUN), Amaya Bengoa (Genetics, HUN), and Alfredo Martínez (HUN).

Navarrabiomed has organized a talk-colloquium having the participation of Minister Santos Induráin and Minister Juan Cruz Cigudosa.

In order to analyse and disseminate the potential of genomic medicine in public health care in Navarra, Navarrabiomed has gathered patients and clinical and research staff of the NAGEN program at the Pamplona / Iruña Planetarium. Led by the public biomedical research centre together with the University Hospital of Navarra, NAGEN is a strategic program, funded by the Department of Economic and Business Development of the Government of Navarra, to implement genome analysis in the clinical practice of the Navarra Health Service-Osasunbidea (SNS-O).

The medical challenges of the future require the promotion of personalized and precision medicine, and the most disruptive change arises from the knowledge of the genetic profile of each person in order to, depending on their individual characteristics, adjust the most appropriate health care, at the appropriate time, according to their health or illness conditions. This way every the patient is the focus and research and collaboration are key in the health ecosystem.

This has been pointed out by the Minister of Health, Santos Indurain, during the institutional opening. Induráin has highlighted the importance of sharing experiences, achievements and difficulties in the progress towards personalized medicine “to improve the assistance provided to the patient, contribute to a more rational use of health resources and favour the sustainability of the public health system”. In addition, he has stated that “the NAGEN program has positioned Navarra at the forefront of this methodology at the state level, and it can be an important instrument for regional development since it promotes biomedical research and explores a new area of industrial development”.

For her part, the director of Navarrabiomed, Maite Mendioroz, he stressed “the need for research and clinical care to be well interconnected. This bidirectional transfer is necessary to put the patient at the centre of research, and thus ensure that research activity has a direct impact on people's quality of life.”

Mendioroz has also dedicated words of gratitude to patients, patient associations, the centre’s staff, and public health professionals "that enable initiatives like NAGEN to go beyond the laboratory and be applied in patient consultations”.

Experts and patients share their experience

This was followed by a panel discussion moderated by Ángel Alonso, head of the Genomic Medicine Unit of Navarrabiomed, who explained the beginnings of the program that began in 2016 with the NAGEN1000 project, dedicated to the diagnosis of rare diseases: “The success of this first project led us to expand its field of application to other sectors such as pharmacological prescription, familial hypercholesterolemia, rapid diagnosis for the management of children in acute serious clinical situations, or the prevention of breast cancer”. The colloquium focused on these issues, which brought together patients, patients' families and genetic counsellors in the same forum.

During discussion, special emphasis was placed on the usefulness of genome-wide study for an accurate diagnosis in cases of illness in which there is no specific clinical suspicion, the possibility of obtaining secondary findings that allow to establish preventive controls in diseases such as breast cancer, the genetic study in direct relatives or the secondary reuse of genomic data for clinical and research purposes.

Patient Associations in Navarra have also had a prominent role in the conference, represented by María José Oraá, president of Saray. According to Oraá “by empowering the patient, the quality of health care can be significantly improved. In this regard, the study of the genome allows us to know each patient individually, we do not cure the disease, but we understand that specific patient”. The president of Saray referred to knowledge and research as levers for better health, and recalled the role played by patient associations, with a long history behind them in social awareness, dissemination and disease prevention.

Scientific conference for clinical and research staff

The talk-colloquium put an end to the conference organized by Navarrabiomed under the title “The potential of genomic medicine in public health care in Navarra”, which has also included a scientific session this morning at the University Hospital of Navarra, aimed at clinical and research staff. The meeting has analysed the present and future of the NAGEN program, with the participation of Juan Cruz Cigudosa, Minister of University, Innovation and Digital Transformation.

During his intervention at the scientific conference of the NAGEN program, the Minister Cigudosa, has recognized the progress of Personalized Medicine in the Regional Community during the last years with the support of the Government of Navarra.

The development of this medicine, the Minister has pointed out, “is a decisive commitment for this Government because it not only improves patient care, but also promotes scientific and technological research and stimulates economic development, making the Autonomous Community a leading region in this area”. And he has encouraged the clinical staff to become aware of what is coming: “Navarra takes the lead in our country in the field of precision medicine, related concepts and needs. We have to take advantage of this moment and success largely depends on health professionals”.

The NAGEN program consists of 6 projects that will sequence about 3,500 genomes in Navarra in 9 years, and is one of the most ambitious European initiatives in this field. The program has been awarded by the International Consortium of Personalized Medicine ICPerMed, with the award for the Best Practice in Personalized Medicine in 2018 and 2021.

Photo caption. From left to right: Ane Miren Sagardia; Sara Pasalodos; Ángel Alonso; Izakun Goñi; Maite Mendioroz; Santos Induráin; Juan Cruz Cigudosa; Mª José Oraa; and Mónica Arasanz.