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World of Genomics: Spain

Occupying 85% of the Iberian Peninsula, Spain is a geographically and culturally diverse country famed for its sun, sand, and sangria. From the passionate tradition of flamenco in Seville, to the running of the bulls that takes place every July in Pamplona, there’s much to explore within the borders of España – including some of the most impressive health stats in the world.

The population of Spain

The Spanish heartland is known as the Meseta – a broad plateau lying about half a mile above sea level. From the Cantabrian mountains in the North to the orange-lined streets around the valley of the Guadalquivir river in the South, this a country with a history as rich as the food it is famed for today.

Many cultures have shaped the Spain we know and love today. Chief among them are the Castilians, Catalonians, Lusitanians, Galicians, Basques, Romans, Arabs, Jews, and Roma (or Gypsies). The influences of Rome are still evident in many cities around the country, and some of the Roman Empire’s greatest rulers were in fact Spanish – think Trajan, Hadrian, and Marcus Aurelius. The Moors also left their distinctive mark across the country, leaving in their wake a legacy of fine Muslim architecture, poetry, and science. Intriguingly, the cultural diversity of Spain is reflected in the many languages still spoken by its inhabitants today, including Castilian, Catalan, Valencian, Galician, and Euskera (Basque).

After Cristobal Columbus set sail for the Americas in 1492, Spain would enjoy a golden age, making it the richest empire in the world for many generations to come. However, by the 19th and 20th centuries, Spanish power had begun to dwindle and the impact of the Spanish Civil War between 1936-39 would leave the country more isolated from the rest of Europe (under Franco’s rule) than ever before.  

The population of Spain has doubled during the 20th century, mostly thanks to mass emigration from foreigners after their slice of the Spanish sun. The pattern of growth, however, has been very uneven, and many rural communities have been left in the dust as young inhabitants migrate to urban areas on the hunt for jobs. In fact, Spain has one of the lowest population densities in western Europe, but some of the most densely populated inhabited areas. As of 2020, 15.23% of the population are foreign-born, making Spain the fourth most popular country in Europe for people to immigrate to (and 10th in the world).

Geographic and demographic information

Summary statistics

  • Land area: 505,969 sq km (2020)
  • Gross domestic product (GDP):
    • Total: $1.43 trillion (2021)
    • Per capita: $30,115.7 (2021)

Population statistics

  • Population size: 47,326,687 (2021)
  • Birth rate: 7 per 1000 people (2020)
  • Death rate: 10 per 1000 people (2020)
  • Infant mortality rate: 3 per 10000 live births (2020)
  • Life expectancy: 82.3 (2020)
    • Male 2020 estimate: 80 years
    • Female 2020 estimate: 85 years
  • Ethnicities: Native Spaniards (ethnically Mediterranean and Nordic types) constitute 88% of the current total population. The rest is composed of around 1 million Roma/gypsies and 4.6 million of foreign citizens, originating mainly from Latin America (39%), North Africa (16%), Eastern Europe (15%) and Sub-Saharan Africa (4%).

Healthcare system

Since the 1960s, Spain has seen a dramatic increase in prosperity, and therefore in the availability of government-sponsored healthcare. The health system is decentralised and is run nationally through a department known as the Sistema Nacional de Salud (SNS). This system is founded on universal coverage and is mainly funded through taxes. Though planning and regulation of healthcare is managed at the national level, things like resource allocation, purchasing, and provision are the responsibility of the 17 regional health authorities. In 2020, a new national-level secretary of state was created in response to COVID-19.

Access to healthcare is generally good, and teleconsultation uptake has helped maintain access to care during the pandemic. However, Spain spends less per capita on healthcare than many other countries in the EU – in 2019, Spain’s average health spending was 30% below the EU average. To improve on this, the country approved an extra injection of funds totalling 12.2 billion euros in 2020. Outpatient care makes up the largest proportion of spending (36%), and a further 22% is spent on pharmaceuticals – higher than the average across Europe. Spending on preventative care services is far below that of others in the EU – just 53 euros compared to the average 102. And this is a similar scenario for spending on long-term care.

Out-of-pocket payments are relatively high at 21.8% compared to a 15.4% EU average, and as mentioned before, this mostly goes on pharmaceuticals. New regulations and exemptions have recently been introduced to help those on lower incomes and the most vulnerable gain access to such medication.

As for the future, several initiatives have been launched by the Ministry of Health to improve the state of healthcare in Spain. Valtermed is a newly introduced information system that aims to assess the “real” therapeutic value of pharmaceutical drugs. An action plan has also been launched to promote the use of biosimilars and generics in the SNS. And the INVEAT Plan was approved in 2021 to provide 750 high-tech devices enabling greater capacity to diagnose early-stage diseases.

Health priorities

Spain has one of the highest life expectancies in the world, mostly thanks to a lower percentage of deaths attributed to dietary risks (10% compared to the 17% average in Europe). Though this has fallen drastically in the last couple of years due to the impact of COVID-19, Spanish life expectancy is still almost 2 years higher than the EU average.

Deaths from preventable and treatable causes are generally lower in Spain than the rest of the EU. This is mostly thanks to the low mortality rates from ischaemic heart disease (in particular among women), cerebrovascular diseases (stroke), and breast cancer.

This said, the burden of cancer in Spain is close to the average for Europe. The 5-year survival rates for many types of cancer – including breast, colon, and prostate cancer – are higher than the EU average. Due to the high incidence of smoking in the country, lung cancer survival rates remain low. However, the introduction of smoking laws from 2005 and onwards has helped address this.

Cancer care has generally improved since 2000 with the introduction of multidisciplinary teams and cancer networks, greater use of clinical guidelines, and more rapid access to innovative pharmaceuticals. As an example, the survival rate for colon cancer has increased from 57% to 63% in the last decade. In March 2021, the country updated its 10-year National Plan for Cancer, aiming to improve the quality of care received by cancer patients. This is aligned with Europe’s Beating Cancer Plan. Screening for cancer is generally high in Spain, with 74% of women aged 50-69 having participated in breast cancer screening in 2020 (compared to the EU average of 59%. However, the pandemic has impacted this greatly.

As is the case for many countries, COVID-19 had a profound impact on healthcare in Spain. Overall, COVID-19 accounted for over 10% of deaths in Spain, making it the leading cause of death in 2020.

Vaccination rates have always been relatively high, but increased efforts during the pandemic have really paid off, and Spain now has 70% of its population with two doses in comparison to the 54% seen across the EU.

Genomic medicine capabilities

Genomic screening of new-born children is typically conducted without explicit consent as it is believed to be in the child’s best interests – though there is an “opt-out” system in place. Seven diseases included in the Common Portfolio of Services are included in these tests.

Genetics training has been hampered by the social and political unrest in the country, and as a result many choose to study abroad. However, between 2007 and 2010, important events occurred in Spain that stressed the impact of human genetics on healthcare and the need for qualified genetic services. For example, a law came into place regulating genetic testing and screening in biomedical research and healthcare applications. Also, the launch of the National Strategy for Rare Diseases in the National Health System indicated that 3,000,000 Spanish citizens could be affected by a rare genetic disease. After this, Spain became a partner in EUROPLAN (the European Project for Rare Diseases National Plans Development) and CIBERER (Center for Network Research on Rare Diseases) was born.

This innovative research structure is a member of a broader umbrella comprising another 11 consortia dedicated to the main priorities in the National Health System, such as Obesity and Nutrition, Diabetes and Metabolic Disease, Hepatic and Digestive Disease, Respiratory Diseases, Epidemiology and Preventive Medicine, Mental Health, Neurodegenerative Diseases, Bioengineering, Nanomedicine, Cancer, Cardiovascular Diseases, and Aging. Today there are 62 research groups making up this organisation, with more than 700 scientists from 29 institutions. The CIBERER has many recommendations to follow a similar model to that of Genomics England and establish centres across the country. Still, despite a high incidence of rare disease and cancer in the country, the profession of genetic counsellor has not been yet formally recognized in Spain.

Notable projects

  • Centre for Genomic Regulation Strategic Plan (2021-2024): Through establishing strategic alliances and partnerships locally and worldwide, the CRG aims to implement quantitative approaches to help solve fundamental problems in genomics, gene regulation, cell and tissue organization, and the pathological alterations that lead to disease.
  • The strategic plan for research and innovation in Health (PERIS): This is a strategic initiative set out by the Catalonian government to fund activities that promote health research. It includes 24 research projects aimed at primary healthcare, and 16 aimed in personalised medicine, regenerative medicine, and independent cooperative clinical research.
  • IMPaCT project: This is a framework for national personalised medicine initiative. It includes three programs to be managed by the Instituto de Salud Carlos III in predictive medicine, genomic medicine, and data science. The aim is to create a collaborative structure within Spain for implementing genomic medicine. This will mean patients have equitable access to all genomic testing and data available to help treat their specific disease.
  • The Spanish node of ELIXIR: ELIXR is a European intergovernmental organisation made up of life scientists, computer scientists, and support staff. Their goal is to enable researchers to take advantage of the massive amounts of data available in across life science fields. The “Hub and Nodes” model has its base in the Wellcome Genome Campus, Cambridge, UK. ELIXIR Spain is chiefly composed of the Spanish National Bioinformatics Institute (INB). The INB coordinates bioinformatics resources for projects in proteomics, genomics, and translational medicine, and has participated in national and international genome projects.

Notable organisations and companies

  • The Centre for Genomic Regulation (CRG): The CRG is an international biomedical research institute of excellence, created in July 2000. It is a non-profit foundation funded by the Catalan Government, the Spanish Ministry of Science & Innovation, and the “la Caixa” Banking Foundation. The basis of the CRG is to improve health through interdisciplinary team collaboration, helping to understand the complexity of life form the whole genome to single cells. it works by recruiting group leaders who then receive support to set up their own research groups.
  • National Centre for Genomic Analysis (CNAG-CRG): The CNAG-CRG is a non-profit organization funded by the Spanish Ministry of Economics Affairs & Digital Transformation and the Catalan Government through the Economy and Knowledge Department and the Health Department. From the 1st July 2015, the CNAG is integrated into the CRG. Their mission is to carry out genomics analysis projects that lead to significant improvements in the health of the Spanish population – covering cancer genetics, rare disorders, and host-pathogen interactions.
  • The Higher Council for Scientific Research (Consejo Superior de Investigaciones Científicas; CSIC): The CSIC is the largest public institution in Spain dedicated to scientific and technical research. It is with the government Ministry of Education and Science and was created in 1940 by the Franco regime to promote and manage research. There are several branches of the CSIC throughout Spain, with the largest number of research centres being located in Madrid.
  • The Institute for Research in Biomedicine (IRB): The IRB is a biomedical research center founded in 2005 in Barcelona. A number of groups within the center are working on research within the genomics space, including functional genomics, data integration, and cancer genomics.

Notable individuals

  • Margarita Salas – a medical researcher and scientist, Margarita helped develop molecular biology in Spain and discovered the bacterial virus Φ29 DNA polymerase. This discovery enabled trace amounts of DNA to be replicated more quickly and reliably – particularly useful in the field of oncology. She was also the first scientific woman ever elected to the Royal Spanish Academy and in 2016, and was an outspoken activist for feminism in science.
  • Juan Ramón Lacadena Calero – an agronomical engineer who has published more than 100 papers about chromosomal behaviour in cytogenetics, as well as bioethics and ethics in genetics more generally.
  • Manel Esteller – a medical geneticist with a research focus on the molecular genetics of inherited breast cancer. He is the Director of the Cancer Epigenetics and Biology Programme of the Bellvitge Institute for Biomedical Research (IDIBELL) in Barcelona and Editor-in-Chef of the peer-reviewed journal Epigenetics.
  • Gines Morata – a Spanish biologist who has spent many years studying the developmental biology of the Drosophila melanogaster fly. Through his research, he has enabled a deeper understanding of the process of organ regeneration in humans, as well as the treatment of cancers and aging.
  • Antonio de Zulueta – the pioneer of genetic research in Spain, Antonio mainly investigated inheritance in beetles. Through this work, he discovered the existence of genes on the Y chromosome, and therefore that genetic inheritance was linked to sex.

The future genomics landscape

The last two decades have seen huge improvements in technology development in clinical genomics, both within and outside of Spain. Further developments around empowering patients (exemplified by the Federación Española de Enfermedades Raras) and an increasing awareness of the ethical, legal, and social impact of genetics will only see more translation of new advances to the clinic.

The CRG’s strategic plan for 2021-2024 sets out a vision in which quantitative biology aids innovative and fundamental research. Their hope is that this will form an international reference in genomics that can then be applied to other areas such as biomedicine and biotechnology. Some of the key actions include the creation of a joint centre with the EMBL-Barcelona focused on modelling and predictive biology, the development and application of transforming technologies in genomics (especially in the AI space), and further developing quantitative cell biology. As part of this strategy, they also plan to create a “transversal Medical Genomics Programme” that focuses on translational research and strengthens European collaboration. The broader impact of this initiative is to drive the development of personalised medicine and ultimately contribute to a science-educated society.

As of September 2022, Spain (along with institutes from Finland, Germany, Norway, and Sweden) become part of the Federated European Genome-phenome Archive (Federated EGA), one of the largest international networks for discovery and access to sensitive human data. This is a collaboration brought about by the EMBL’s European Bioinformatics Institute, the CRG in Spain, and supported by ELIXIR.

“We are entering a new era of medical research and treatment, with countries around the world launching large-scale genomics research projects to make the most out of advances in personalised medicine,” said Arcadi Navarro, Professor at Universitat Pompeu Fabra and Director of the EGA team at the CRG. “This has only been possible because citizens and scientists decided to share their data and their discoveries. Easier discovery and sharing means higher quality science and a better return for the people it serves. By launching this initiative, we aim to help make all this possible.”


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