• Professionals from the SNS, NASERTIC and Navarrabiomed will collaborate on the IMPaCT call for grant applications announced by the Carlos III Health Institute, in the areas of Genomic Medicine, Predictive Medicine and Data Science

Professionals from the Navarre Health Service (SNS), NASERTIC (Navarre Services and Technologies) and Navarrabiomed Biomedical Research Center will participate in three programs in the call to promote the Precision Medicine Infrastructure Associated with Science and Technology (IMPaCT), which is run by the Carlos III Health Institute (ISCIII) and seeks to promote precision medicine.

The three programs promoted as part of this initiative are Genomic Medicine, Predictive Medicine and Data Science.
The call to promote IMPaCT represents the first step in the new Spanish Personalized Medicine Strategy and has been allocated a budget of 25.8 million euros.

The Carlos III Health Institute (ISCIII), an organization belonging to the Ministry of Science and Innovation, is promoting this initiative around these programs.

It will lead to progress in the implementation of personalized precision medicine in Spain by generating genomic information and integrating it with clinical information and environmental factors to improve diagnosis, treatment and the ability to predict diseases, thereby providing safer, more efficient preventive and predictive medicine.

To that end, the plan is to create new massive sequencing and data analysis centers and biobanks, and to promote the development of new computing and data processing techniques and models to improve the exploitation and interoperability of existing systems in order to set up an infrastructure of services with the capacity to support national health systems and the potential to participate in international projects.

Development of programs and public participation in Navarre

The first of the three programs, the Genomic Medicine Program, will involve developing a network of five reference centers for genomic analysis, one of which will be located in Navarre. An alliance between the Hospital Complex of Navarre, Navarrabiomed and NASERTIC has been established in the region of Navarre. Ángel Alonso, head of the Navarrabiomed Genomic Medicine Unit and coordinator of the Technical Committee of the Interdepartmental Strategy for Personalized Medicine of the Government of Navarre, will lead Navarre’s public participation.

In addition, a group of clinical experts will be created and a total of 38 centers from all autonomous communities will take part: 25 hospitals and 13 research centers and universities, including the Universidad de Navarra. Ángel Carracedo, from the CIBER for Rare Diseases (CIBERER), will be responsible for coordinating the program, which will benefit from 7.24 million euros in funding.

Thus, Navarre is set to become one of Spain’s five “genetics capitals” thanks to the Government of Navarre’s commitment to the NASERTIC Center for Mass Sequencing and Supercomputing. The public company will carry out the sequencing of genomes and exomes from patients in Navarre, Cantabria, the Basque Country and La Rioja. In addition, the following will be implemented in coordination with four other sequencing centers (CRG-CNAG, the Galician Public Foundation of Genomic Medicine, CIBERER, and the Progress and Health Foundation) and hospitals and research centers throughout Spain with a view to making progress in the development of the National Genomic Medicine Plan: protocols and standards for the analysis, interpretation and diagnosis of patients with rare diseases and cancer, the study of markers of drugs with high therapeutic impact, data access models, and an ethical and legal framework.

The Predictive Medicine Program aims to create and maintain a population-based cohort (a group that forms part of a clinical trial or study and is observed over a period of time) for including clinical, epidemiological and biological data.

A total of 21 hospitals and research centers throughout Spain are expected to participate and will be coordinated by Marina Pollán from the CIBER for Epidemiology and Public Health (CIBERESP). Navarre will participate in the project through the primary care department of the Navarre Health Service. The team will be led by Patricia Palacios.

Like the previous program, it will be managed at the national level by the CIBER Consortium and will benefit from funding of 14 million euros.

The Data Science Program will involve creating and maintaining a system for collection, integration and analysis of clinical and molecular data. The program will benefit from the participation of 47 institutions representing all autonomous communities with accredited health research institutes, as well as the collaboration of companies, foundations, universities and research centers. It will receive funding to the tune of 4.55 million euros. The initiative will be coordinated by Alfonso Valencia from the Barcelona Supercomputing Center (BSC).

The program will be managed in Navarre by the Navarrabiomed Translational Bioinformatics Unit and will be led by unit head David Gómez-Cabrero. In addition, professionals from NASERTIC, the Navarrabiomed Methodology Unit and the Government of Navarre’s Department of Health and Department of University, Innovation and Digital Transformation will participate.

In total, more than 100 institutions from all autonomous communities will collaborate on implementation of the three IMPaCT programs.
 

• The technology makes it possible to analyze a person’s entire genome in 24 hours and identify mutations that can cause hereditary or genetic diseases

María Chivite, the President of the Government of Navarre, inaugurated the region’s first mass sequencing center this afternoon at an event that also featured a speech by Rafael Rodrigo, the Spanish Secretary-General for Scientific Policy Coordination.

The center, which is located on the premises of the public company NASERTIC and was promoted by the Interdepartmental Commission for Personalized Medicine, will be the second public center with these capacities in the whole of Spain.

The President stressed that personalized medicine “is one of the driving forces behind the Government of Navarre’s various economic and social regeneration projects,” as set out in the Reactivating Navarre Plan and for which financial support is being sought from European funds and initiatives arising from public-private partnerships.

Chivite defended this “cutting-edge medicine under public leadership,” since institutions must undertake to “provide the greatest good to the most people.” She also stressed the commitment of the teams involved in making this project a reality and praised the strength and excellence of Navarre’s health system, which “has been under pressure during the pandemic, but we know is in the hands of exceptional professionals.” The President said that Navarre is a region with excellent healthcare and “thanks to projects like this, it will continue to be at the forefront of medicine in the future.”

In his speech, Rafael Rodrigo pointed out that “during this phase of rebuilding society, the economy and healthcare, it is more important than ever to promote a new way of providing medical care that is linked to scientific knowledge and the ability to exploit all available information in order to increase the quality and efficiency of the healthcare system.” He went on to say, “This approach is designed to obtain safer, more efficient, preventive and predictive medicine,” and “centers like the one being unveiled today are key components along the path in the field of personalized medicine.”

Program

The event, which was held both online and on site at the public company’s premises, was opened by three members of the Government of Navarre: Juan Cruz Cigudosa, Minister of Universities, Innovation and Digital Transformation; Santos Induráin, Minister of Health; and Manu Ayerdi, Minister of Economic and Business Development. In addition, Gonzalo Rodríguez, Director of Personalized Medicine and Laboratories at NASERTIC, took the participants on a live, virtual guided tour of the facilities.

Two roundtable sessions and three speeches were organized as part of the event. Iñaki Pinillos, Managing Director of NASERTIC, was in charge of moderating the roundtable session “How to Create an Ecosystem Around Personalized Medicine”, in which different speakers participated on behalf of different entities, such as the company Illumina, the National Center for Genomic Analysis (CNAG), the Fundación Progreso y Salud and NASERTIC itself.

Specifically, the conversation focused on subjects such as the role of genomics in research, the principles that should underpin a strategic personalized medicine framework and the role played by industry in the personalized medicine ecosystem.

The roundtable session “Personalized Medicine: Clinical Applications and European Outlook” was moderated by Toya Bernad, Director of Innovation and Business Culture at NASERTIC, and benefited from the participation of representatives from institutions such as Navarrabiomed-CHN, CIMA Lab Diagnostics and Barcelona Supercomputing Center.

There was a debate on how to integrate this practice into the field of healthcare and the role played by hospitals, research centers and universities. A discussion was also held on the impact that the commitment to personalized medicine could have on future crises like the one created by COVID-19.

Following Rafael Rodrigo’s inaugural speech, two further speeches were given. Ángel Carracedo, a professor of legal medicine at the Universidad de Santiago de Compostela (USC) and Director of the Galician Public Foundation for Genomic Medicine, talked about the transfer of personalized medicine, while Francisco Fonseca, Director of the Representation of the European Commission in Spain, reflected on the challenge of digitalization in Europe in the global context.

Massive Sequencing

The genome of every human being is composed of 3 billion elements (bases) that make it unique. Changes to any of these bases (known as mutations) may be responsible for the diseases that a person suffers from or may suffer from in the future. Massive sequencing offers the possibility of analyzing a person’s entire genome in 24 hours and identifying mutations that cause hereditary or genetic diseases, such as cystic fibrosis and different kinds of cancer.

The Massive Sequencing Center uses the Illumina NovaSeq6000 sequencer, a state-of-the-art piece of equipment with the speed and capacity to perform genome sequencing projects quickly, economically and in a scalable manner.

The €2 million price tag on the Illumina NovaSeq6000 sequencer was financed by the Ministry of Economic and Business Development, and led to the launch of the Massive Sequencing Center, whose infrastructure is complemented by NASERTIC’s supercomputing cluster (HPC) and the addition of Dr. Gonzalo Rodríguez to NASERTIC’s staff as Director of Personalized Medicine and Laboratories.

The aim is for this center to help make Navarre a benchmark in the field of genomics and personalized medicine, and strengthen Navarre’s industrial sector, promote research in this field, and improve the health and well-being of society.

Along similar lines, the Ministry of Health highlighted the project’s huge commitment to innovation and its potential as a driver of economic and social development, but stressed that its ultimate raison d’être and purpose is to improve people’s lives. For the Ministry, the Mass Sequencing Center provides a substantial boost to its commitment to personalized medicine and will equip Navarre with a leading innovation center whose influence may even be felt abroad. From the perspective of equal access, ethics, effectiveness and sustainability, the Ministry also believes the center could generate benefits for patient diagnosis and care.
 

“NAGEN 1000” is a Spanish regional pilot study to incorporate recent advances in cutting edge genomic research technology (Whole Genome Sequencing) into the real clinical practice.

The “NAGEN 1000” study targets mainly rare-disease patients and their families. The field of rare diseases is closely linked to Personalised Medicine: A specific diagnosis and treatment is needed for a small group of patients, or even for an individual person. In addition to providing answers about rare diseases, the whole genome data of the NAGEN 1000 study addresses the area of personalised prevention by analysing genetic factors that are connected to the risk for serious preventable diseases. In addition, the analysis of pharmacogenomic variants allows first insights into the kind and dosage of certain drugs that are tolerated by the individual person, which allows a more personalised treatment with lower adverse effects.

“NAGEN is an implementation project with the main goal to speed up the transfer of the extraordinary scientific advances in the field of genomics to the bedside of the patients.”

Angel Alonso, Director of Project NAGEN 1,000

This project addressed the difficulties encountered for this implementation and provided innovative solutions to overcome the main barriers for genomic medicine progression, i.e. healthcare workforce education and public empowerment, optimized use of available infrastructures and resources, adaptation of pre-existing electronic health records, provision of big data analysis, ICT innovations, and ELSI regulations.

With an expected recruitment of 1,000 rare disease patients and their relatives, NAGEN has already provided complex genetic diagnoses for one third of the participating families, found transcendental genetic variations related to personal and reproductive risk to serious preventable diseases in 1 out of 20 enrollees, and identified a mean of 3.5 actionable pharmacogenomic variants, providing a base for a more efficient, less toxic drug prescription, in 100% of participants.

“Once we learnt about the cause of our son’s condition, we understood all those symptoms we’ve never been able to interpret. I’m now optimistic about the future; this opens the door to gene therapy; it is very expensive and it may be still in its infancy, but…who knows?...”

Paco, father of a participant patient in NAGEN 1,000.

Further, strong candidate genomic findings, potentially explaining patients’ diseases, have been found in an additional 40% of the cohort, paving the way for new diagnoses to come and collaborative research projects in the future.

“In my family everyone had Parkinson’s disease: my grandpa, two aunties, my dad, two of my brothers. Suddenly I noticed some trembling and stiffness and I thought: Will I have Parkinson’s too? Having the genetic answer has brought a lot of reassurance to us; now we know and can live within our circumstances.”

Mari, NAGEN 1,000 patient.

"NAGEN 1000” illustrates how translational research and innovation in the field of genomics and personalised medicine (PM) is already delivering benefit to real patients and it was awarded as a Best Practice in Personalised Medicine by ICPerMed in 2018.

“To Navarrabiomed leading the NAGEN strategy since 2017 has been a wonderful opportunity to show how a research center can directly improve the care given to patients in the health system.”

Iñigo Lasa, Director of Navarrabiomed, Biomedical Research Center.

Significantly, it resulted in setting the new Genomic Medicine Unit of Navarrabiomed and its NAGEN strategy which has now raised €6Mio for 3 R&D projects on PM over the last 4 years. NAGEN became an exemplar practice for the Spanish Senate Initiative for a National Strategy on Genomics and PM (2018), and has given rise to the launch of the Navarra Government Strategy on Personalised Medicine announced in November 2019.

High-cholesterol levels, or hypercholesterolemia, affects nearly 1500-2500 people in Navarra, and less than 20 per cent of them are not aware that they suffer from this condition. Hypercholesterolemia is considered to cause 22 per cent of coronary events, most of which could be prevented with early diagnosis and treatment. The biomedical research centre Navarrabiomed has launched NAGENCOL, a project to address this issue using whole-genome sequencing as a diagnostic tool to offer personalised treatment to patients who suffer from hypercholesterolemia. The project is framed within NAGEN, a global strategy aimed at applying genomic medicine in the Navarra Health System-Osasunbidea (SNS-O).

Currently, hypercholesterolemia poses a real challenge to the public health system, because the life expectancy of untreated patients can decrease by 25 years, and 50 per cent of them are more likely to have a heart attack before the age of 55. NAGENCOL addresses this problem, offering a new model that uses genomic information, together with other clinical and demographic data, to bring precision medicine to individual patients.

This ambitious public health project has a budget of 2 million Euro, contributed by the Department of Economic Development at the Directorate-General for Industry, Energy and Innovation of the Government of Navarra, within the framework of the Genomics and Advanced Medicine project (GEMA) and the Intelligent Specialisation Strategy S3.

The NAGENCOL activities are managed by five strategic partners specialising in clinical practice, scientific and technical services, and research. They include the Navarra Hospital Complex (CHN), Nasertic, Tracasa Instrumental SL and Navarrabiomed as the leader of the study. The project is headed by Dr Ander Ernaga and Dr Juan Pablo Martínez from the Endocrinology Service at CHN.

NAGEN Strategy

Since 2016, Navarrabiomed has been leading the Genomic Medicine Strategy (NAGEN) of the Navarra Health System-Osasunbidea. With the support of the Government of Navarra, Navarrabiomed has since coordinated two strategic projects: NAGEN 1000 (best precision medicine project award winner in 2018) and Pharmanagen.

The two initiatives, along with NAGENCOL, are being used to set up, in the SNS-O patient care units, the infrastructure required for using genomic data as a powerful diagnostic tool and to determine the best personalised treatment for each patient.

• A consortium headed by Navarrabiomed will bring Navarra to the forefront of personalised/precision medicine.
   

NAGEN: Navarra Genome 1000 was presented earlier today at the Navarra Hospital Complex (CHN). NAGEN 1000 is an initiative led by the biomedical research centre Navarrabiomed, whose aim is to transfer the use of cutting-edge human genome analysis technology to Navarra’s public health system. A thousand genomes of patients with rare diseases and certain types of cancer in the Navarra Health System-Osasunbidea (SNS-O) and their relatives will be analysed.

The presentation was attended by CHN Managing Director Antonio Merino; the head of the R&D+I at the Directorate-General for Industry, Energy and Innovation of the Government of Navarra, Ana Vicente; the Director of NAGEN 1000, Ángel Alonso; and the Managing Director of Navarra de Servicios y Tecnologías (Nasertic), Iñaki Pinillos.

NAGEN 100 is a pioneering three-year project that will place Navarra at the top of Spain’s public health system in terms of genomic analysis and technology.
Modern medicine is moving towards clinical practice based on genetic diagnosis and DNA testing. In this context, NAGEN 1000 will lead the way to personalised and precision medicine, as it uses genomic information for disease prevention and the promotion of biomedical research. Also, it will drive technological progress in the precision medicine industry in Navarra.

The project has been granted 2,984,000 Euro, as part of the Strategic R&D Project Call 2017-2019 of the Advanced Genomics and Medicine (GEMA) challenge launched by the Economic Development Department at the Directorate-General for Industry, Energy and Innovation within the Intelligent Specialisation Strategy S3.
Multidisciplinary consortium

NAGEN 1000 will be developed by a consortium made of the CHN, Nasertic (a company run by the Government of Navarra), Avantia and Navarrabiomed, leader and coordinator of the project.

Nearly fifty professionals will be using genomic data for medical and development purposes to attain the goals of NAGEN 1000. The head of the team is Ángel Alonso, doctor at the CHN Medical Genetics Service and prominent researcher at Navarrabiomed. They will share knowledge and technical-scientific infrastructure within the consortium.

Other national and international institutions will bring support to the consortium: the Centro Nacional de Análisis Genómico (CNAG-CRG) and the Clinical Bioinformatics Research Area of Fundación Progreso y Salud (AIBC-FPS), reporting to the regional Government of Andalusia. These organisations will facilitate and supervise research and the transfer of technology to the consortium, following with the instructions given by the Higher Scientific Committee, made of renowned national and international experts in the implementation of genomics in medical practice.

Navarra as a strategic region

International consultants have pointed out that four characteristics can be found in Navarra that are important to the development and implementation of genomic medicine: digital medical records of residents to easily link genetic data to; a single tertiary referral hospital to coordinate all the medical specialties in the region; a rather small territory that is nevertheless enough for patient selection, recruitment and follow-up; and preserved core families for easy access to patients’ close relatives. Also, the project will analyse one genome every 500 inhabitants.

An ICT supercomputing infrastructure will be built simultaneously that will store, process and scale genomic information securely, in compliance with the relevant regulations. A Bioinformatics Unit will be created to analyse the genomic data obtained for clinical practice purposes. Also, a multidisciplinary Genomic Medicine Unit will be established made of SNS-O doctors to provide health professionals with the knowledge required to ensure that patients benefit from the latest advances in genomic medicine.

The importance of genomics goes beyond the scientific sphere, as this emerging medical discipline has an impact on the economy and is a driving force in the industry. Proof of this are past experiences, such as the Human Genome Project in the USA or the 100,000 Genomes Project in the UK, which was coordinated by Genomics England Ltd (GEL), a company the Navarra-based consortium is in contact and has established lines of cooperation with.

In the context of NAGEN 1000, different value-added strategies will be developed in accordance with the regulations in force. Giving a boost to biomedical research and exploring a new path for industrial development, the project is an important tool for development in the region that will bring Navarra and its public health system to the forefront of personalised medicine.

 

On Thursday, about 30 students from CP Ermitagaña School visited the headquarters of Navarrabiomed and attended the presentation of "¡La medicina personalizada y el mundial de fútbol!" (Personalised Medicine and FIFA World Cup!), the third volume of the popular science series published by the Economic Development Department in an effort to arouse interest in science and technology among primary school children.

The event was attended by Manu Ayerdi, Deputy Minister of Economic Development, who highlighted the importance of encouraging the pursuit of scientific careers by popularising biomedical research and bringing schoolchildren into contact with real-life scientists and research centres.

Personalised medicine

At the event, Angel Alonso, a specialist from the Medical Genetics Research Unit at the Navarra Hospital Complex (CHN) and one of the contributors to ¡La medicina personalizada y el mundial de fútbol!, talked to the children.

Dr Alonso explained how personalised medicine intends to find clues to a variety of illnesses by analysing the genetic codes of individuals and offering more accurate diagnoses, new treatments and specialised therapies.

Dr Alonso’s talk was followed by a workshop on neuroscience, conducted by professionals from the Navarrabiomed Biobank. The children, equipped like real scientists, did hands-on experiments and learned a few facts about the functions of the brain and donation post-mortem for scientific research, thus coming into contact with complex subjects in ways they can understand.