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World of Genomics: Spain

Original article by Lauren Robertson, October 2022. Updated by Gemma Davies, September 2023. 

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. 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: 505,969km2
  • Gross domestic product (GDP):
    • Total: $1.4 trillion (2022 estimate)
    • Per capita: $29,350.2 (2022 estimate)

Population statistics

  • Population size: 47.5 million (2023).
  • Birth rate: 7.0 per 1000 people (2023).
  • Death rate: 9.5 per 1000 people (2023).
  • Infant mortality rate: 2 per 1000 live births (2023).
  • Average life expectancy: 83.3 years (2023).
  • Male: 80.3 years (2023).
  • Female: 86.2 years (2023).
  • Ethnicity: Native Spaniards (ethnically Mediterranean and Nordic types) comprise 88% of the population. Around 1 million Roma and 4.6 million foreign citizens make up the rest of the population, 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, which has increased 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, 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 for most Spanish citizens, 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 in 2020. Outpatient care makes up the largest proportion of spending, accounting for 36% of the budget, while a further 22% is spent on pharmaceuticals, which is higher than the average across Europe. Conversely, spending on preventative care services was far below that of others in the EU in 2020, at just €53 per inhabitant, compared to the average €102, which is also the case for spending on long-term care.

Spain’s out-of-pocket payments are high at 21.8% compared to the 15.4% EU average, consisting mainly of co-payments for medicines, medical devices outside hospitals and dental care. New regulations and exemptions have recently been introduced to help those on lower incomes and the most vulnerable gain access to 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. Furthermore, the INVEAT Plan was approved in 2021 to budget €800 million to renew or purchase 851 high-tech devices to enable the early diagnosis of diseases.

Health priorities

Spain has one of the highest life expectancies in the world, mostly thanks to a low 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 due to the low mortality rates from ischaemic heart disease (in particular among women), cerebrovascular diseases such as stroke, and breast cancer.

However, the burden of cancer in Spain is close to the average for Europe. The 5-year survival rates for many cancer types including breast, colon and prostate are higher than the EU average. Unfortunately, due to the high incidence of smoking in the country, lung cancer survival rates remain low. However, the introduction of smoking laws in 2005 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 faster 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, Spain 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 impacted this greatly and in 2022 breast cancer screening attendance was lower than before the pandemic.

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 were highly successful, so that 70% of the Spanish population has now received two vaccine doses, in comparison to the average of 54% seen across the EU.

Genomic medicine capabilities

Genomic screening of new-born children is typically conducted without explicit consent in Spain as it is believed to be in the child’s best interests. However, parents can choose to “opt-out”. 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. 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. In 2007, the Act on Biomedical Investigations came into place regulating genetic testing and screening in biomedical research and healthcare applications. Additionally, 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. Following this, Spain became a partner in EUROPLAN (the European Project for Rare Diseases National Plans Development), and the CIBERER (Centre for Network Research on Rare Diseases).

CIBERER is an innovative research structure under a broader umbrella of 11 consortia dedicated to the main priorities in the National Health System: 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. CIBERER follows a similar model to that of Genomics England and aims to establish centres across the country. Still, despite a high incidence of rare disease and cancer in the country, the profession of genetic counselling has not been yet formally recognized in Spain.

Notable projects

  • Centre for Genomic Regulation Strategic Plan (2021-2024): Through establishment of 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): An 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 at personalised medicine, regenerative medicine, and cooperative clinical research.
  • IMPaCT project: Framework for a national personalised medicine initiative, including three programs managed by the Instituto de Salud Carlos III in predictive medicine, genomic medicine and data science. This programme aims to create a collaborative structure within Spain for implementing genomic medicine, providing access to genomic testing and data to help treat a patient’s 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 across life science fields. The “Hub and Nodes” model is based at the Wellcome Genome Campus, Cambridge, UK. ELIXIR Spain is chiefly composed of the Spanish National Bioinformatics Institute (INB), which coordinates bioinformatics resources for use in proteomics, genomics and translational medicine. The INB has participated in national and international genome projects.
  • The Genome 1000 Navarra Research Project (NAGEN 1000): An initiative led by the biomedical research centre Navarrabiomed, aiming to transfer the use of the cutting-edge technology for complete human genome analysis to the public health network of Navarre. The Navarrese Health Service-Osasunbidea (SNS-O) is carrying out the study of 1,000 genomes of patients and their relatives with rare diseases and some types of cancer.

Notable organisations and companies

  • The Centre for Genomic Regulation (CRG): 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 CRG aims to improve health through interdisciplinary team collaboration, helping to understand the complexity of life from the whole genome to single cells. The programme recruits group leaders who then receive support to set up their own research groups.
  • National Centre for Genomic Analysis (CNAG-CRG): A non-profit organization funded by the Spanish Ministry of Economics Affairs & Digital Transformation and the Catalan Government through the Economy and Knowledge and Health Departments. On the 1st of July 2015, the CNAG was 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 largest public institution in Spain dedicated to scientific and technical research. Created in 1940 by the Franco regime, this council aims to promote and manage research as part of the government Ministry of Education and Science. There are several branches of the CSIC throughout Spain, with the largest number of research centres located in Madrid.
  • The Institute for Research in Biomedicine (IRB): A biomedical research centre founded in 2005 in Barcelona. A number of groups within the centre are working on research within the genomics space, including functional genomics, data integration and cancer genomics.
  • IVO Biobank: A hospital biobank mainly focused on oncological pathology that collects, stores and distributes quality biological samples from oncological patients for use in biomedical research and for collaboration with other research groups.

Notable individuals

  • Margarita Salas: A medical researcher and scientist, Margarita helped develop molecular biology in Spain and discovered the bacterial virusΦ29 DNA polymerase. This discovery enabled trace amounts of DNA to be replicated more quickly and reliably, which is particularly useful in the field of oncology. In 2016, Margarita was the first woman ever elected to the Royal Spanish Academy, 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 general ethics in genetics.
  • Manel Esteller: A medical geneticist with a 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-Chief 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, Gines 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.”

References

CRG Strategic Plan 2021-2024. Available online at: https://www.crg.eu/en/content/about-us-general-information/policies#s1

European Commission. “European 1+ Million Genomes Initiative”. Available online at: https://digital-strategy.ec.europa.eu/en/policies/1-million-genomes

ESMO. Sixteen EU member states sign the genomics declaration. Available online at: https://www.esmo.org/oncology-news/archive/sixteen-eu-member-states-sign-the-genomics-declaration

State of Health in the EU: Country Health Profiles. Spain: Country Health Profile 2021. Available online at: https://read.oecd-ilibrary.org/social-issues-migration-health/spain-country-health-profile-2021_7ed63dd4-en#page21

Pampols, T, Ramos, F J, Lapunzina, P, Gozalo-Salellas, I, Perez-Jurado L A, Pujol A. A view on clinical genetics and genomics in Spain: of challenges and opportunities. Mol Genet Genomic Med. 2016. 4, 376-391. doi: 10.1002/mgg3.232

World Health Organisation. Spain: Health System Review. 2018. Available online at: https://www.euro.who.int/__data/assets/pdf_file/0008/378620/hit-spain-eng.pdf


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