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World of Genomics: Italy

Italy is famous for its rich history, beautiful architecture and world-renowned cuisine. Surrounded by such inspiration and the legacy of great thinkers such as Galileo, Da Vinci and Cicero there’s so much to learn and explore in Italy– and that includes an excellent healthcare system, one of the best in the EU.

The population of Italy

Italy, the boot-shaped peninsula, extends deep into the Mediterranean Sea and is bordered by France, Switzerland, Austria and Slovenia in the north. In Italy, there are the famous cities of Rome, Venice, Milan, Florence and Naples. There are also mountain ranges including the Alps with glacier-carved valleys, and the Apennines, which is home to the famous Mount Vesuvius, as well as beautiful coastal beaches.

Figure 1 ¦ Map of Italy

Before the Romans were the Etruscans, an ancient civilisation that settled between the Arno and Tiber rivers. In the 3rd century BCE the Romans rose to become the dominant power, and by the 2nd century BCE the Roman empire stretched from Scotland to India, making up 20% of the world’s population. In the 5th century CE, the Roman empire fell thanks to an uprising of the Huns, Lombards, Ostrogoths and Franks, who each seized different parts of Italy.

This fragmented the country, and southern Italy was ruled by a succession of Byzantine, Arab, Norman, Spanish and Bourbon rulers. In the Renaissance era (15th and 16th centuries) cities in the region flourished, contributing greatly to the intellectual, artistic and technological advancements of that time. During this time central and northern Italy were Papal States, meaning they were under the direct sovereign rule of the pope of the Roman Catholic Church.

Italy came together as one country, unified in the 19th century under King Victor Emmanuel II. In WW1 Italy joined the allied forces, but in WW2 fought against the allies. After WW2 was the Italian Civil War, and this led to the formation of a republic, reinstating democracy. Italy subsequently joined the European Union and the G20.

Geographic and demographic information

Summary statistics

  • Land area: 2020 estimate: 295,717 sq km
  • Gross domestic product (GDP):
    • Total: 2021 estimate: 2.1 trillion USD
    • Per capita: 35, 551.3 USD

Population statistics

  • Population size: 2021 estimate: 59,066,225
  • Birth rate: 2020 estimate: 7 per 1000 people
  • Death rate: 2020 estimate: 13 per 1000 people
  • Infant mortality rate: 2020 estimate: 3 per 1000 people
  • Life expectancy: 2020 estimate: 82 years
    • Male 2020 estimate: 80 years
    • Female 2020 estimate: 85 years
  • Ethnicities: 2022 estimate: 92% Italian, 1.8% Romanian, 1.1% Maghrebi and Arabic, 0.8% Albanian

Healthcare system

Italy has a National Health Service called the Servizio Sanitario Nazionale, or SSN, but unlike in other countries such as the UK, the NHS in Italy is a decentralised system. The central government distributes funding via tax revenue, and each region is responsible for organising and delivering healthcare. Italy’s healthcare system is one of the most efficient systems in the EU, with the lowest preventable mortality rate in the EU in 2018.

Italy spent 8.7% of its GDP on healthcare in 2019, which is lower than the EU average of 9.9%. Public spending made up 74% of total health expenditure, with remaining expenses from out-of-pocket payments by households – voluntary health insurance plays a very small role in Italy only making up 3% of expenses. Outpatient care is the largest category of health spending in Italy, in 2919 it accounted for 33% of health expenditure. However, on a per capita basis, Italy still spends one fifth less than the EU average on inpatient and outpatient care.

Italy has an ageing population – however despite this long-term care only accounts for 11% of healthcare expenditures in 2019 and is significantly lower than the EU average (on a per capita basis). The number of hospital beds in Italy averages about 3.2 per 1000 people – but there are fairly large geographical disparities, with southern regions generally having about 2.4 beds per 1000 population compared to 3.4 beds per 1000 in the northern regions. In Italy, the average length of stay in hospital is higher than the EU average at 8.0 days compared to 7.4 days. This could be due to the fact that Italy substitutes low-intensity inpatient care with ambulatory and home care, resulting in the remaining inpatient cases being more complex leading to longer average stays.

Health priorities

Life expectancy in Italy is one of the highest in the EU, and most Italians reported being in good health (73% in 2019), but chronic conditions are a point of concern. COVID-19 was the main cause of death in 2020, accounting for 10% of all deaths. The other major drivers of mortality were ischaemic heart disease at 9.9%, stroke at 8.8%, lung cancer at 5.3% and chronic obstructive pulmonary disease at 3.8%.

Lung cancer is the most common form of death by cancer, and in 2018 nearly 30% of 15-year-olds reporting they had smoked in the past month – one of the highest in the EU. Moreover, around 15% of all deaths in Italy can be attributed to smoking, and 18% of all Italian adults still smoke regularly. The burden of cancer in Italy is close to the EU average, but cancer is one of the main priority areas of the National Prevention Plan, a five-year strategy which was introduced by the Ministry of Health in 2020.

Life expectancy and health also vary due to significant geographical inequalities – in the southern region of Campania women have a life expectancy 2.7 years lower than women in the northern province of Trento. However, these differences have reduced over the past few years, due in part to the COVID-19 pandemic which hit the north of Italy harder than the south.

Genomic medicine capabilities

Italy has had a monitoring system for the use of genomic medicine since the mid-80s. It was therefore one of the first countries in the world to have a public policy on genomic medicine. The Italian Society of Human Genetics was founded in 1997, and in 2007 the Italian Institute for Genomic Medicine was founded. The National Prevention Plan and the Technical document for the reduction of the burden of cancer diseases are the 2 key documents which lay out the strategy for genomics medicine in Italy.

In Italy, the health program “expanded newborn screening” is a public health program aimed to screen all newborns to provide early diagnosis and prevent or ameliorate long-term consequences of disease for newborns suffering from rare disease (such as inherited metabolic disorders). Expanded newborn screening has been offered free of charge in Italy since 2016, and a coordination centre for neonatal screening was established at Italy’s National Institute of Health. The centre provides standardised information to the different regions on the risks derived from rare disease, as well as the benefits from screening and information on therapy and best treatments for specific rare diseases. Furthermore, the centre has a centralised archive on the outcomes of neonatal screening to make data available for effectiveness evaluation.

In Italy, genetic counsellors are not a fully recognised profession by the Italian National Healthcare System – but genetic counselling courses and training are available to medical geneticists, biologists and oncologists. In 2019, the “Associazione Italiana di Genetic Counsellors,” the Italian Association of Genetic Counsellors (AIGeCo), was established. It aims to improve genetic counselling services in Italy, as well as facilitate a multidisciplinary approach to genetic counselling, helping bring together clinical, psychological, social, scientific and technological expertise in the field with the intention of the creating the best possible care for patients. AIGeCo advocates for genetic counselling to become a fully recognised profession, and advocate for genetic counselling to be employed in daily clinical practice.

Notable projects

  • European ‘1+ Million Genomes’ Initiative (1+MG) – Italy is a signatory of the EU project 1+MG project which aims to secure access to genomics and clinical data across Europe for the development of personalised healthcare, public health policy making, and scientific research. The University of Milan is also participating in the Beyond 1 Million Genomes project which provides coordination and support to 1+MG.
  • Italian Genome Project – Collected data from more than 1,000 individuals from 14 Italian regions to accurately characterise the genetic make-up of Italy
  • Italian Genome Biodiversity Project (IGBP) – Aims to characterize the genomic variability of the Italian population
  • Italian Genome-Wide Database – Freely available genomics database from control samples used in previous genome-wide association studies
  • The Population Biobank of the Italian National Institute of Health (ISS) – Started in 1993, this biobank contains more than 290,000 specimens from 40,000 donors of all ages, including information on lifestyle, risk factors, conditions at risk, pathologies and environmental factors.
  • NAVIGATOR – A very recent (2022) Italian biobank that aims to promote precision medicine for cancer patients with the aim of making treatment more predictive, preventive and personalised using imaging and multi-omics analysis of data.

Notable organisations and companies

  • Italian Institute for Genomic Medicine (IIGM)– Founded in 2007 the IIGM aims to develop excellence within research in the genomics field, and set up advanced training courses in human genetics, genomics and proteomics.
  • Italian Society of Human Genetics – Founded in 1997 and it aims to promote research in the field of human and medical genetics and contribute to the development of these fields.
  • Alleanza Contro il Cancro (ACC) – A national oncological network founded by the Ministry of Health in 2002. ACC works closely with IIGM on the implementation of genomic medicine into clinical practice for better cancer treatment and care, as well as engaging in basic research, education and information about cancer, and clinical trials.
  • Istituto Europeo di Oncologia (IEO) – Fastest growing comprehensive cancer centre in Europe, dedicated to the fight against cancer through prevention, diagnosis, treatment, training, education and basic and translational research. Their clinical genomics program (ClinGen) aims to maximise genomic information to improve cancer treatment and discover new biomarkers.
  • Italian Association of Genetic Counsellors (AIGeCo) – Established in 2019 as a network of genetic counsellors to improve genomics medicine and facilitate collaboration between different disciplines for the best care and outcomes for patients affected by genetic diseases.
  • University of Siena – The first university in Italy that offers a degree program in genetic counselling for prenatal, preconception, infertility and cancer genetic screenings.
  • University of Milan – The first and only university in Italy participating in the Beyond 1 Million Genomes project.

Notable individuals

  • Mario Ramberg Capecchi – Won the Nobel Prize for Physiology and Medicine in 2007 for discovering how to knock out specific genes of interest in mice
  • Luigi Luca Cavalli-Sforza – Population geneticist at the University of Pavia who studied blood groups and migration patterns.
  • Guido Pontecorvo – Italian geneticist who discovered the process of genetic recombination in the fungus Aspergillus.

The future genomics landscape

The future genomics landscape in Italy is hard to define, due in part to its decentralised system of healthcare. Italy has invested heavily in genomics research over the past 2 decades – 135 million USD was dedicated to the project IPERGEN – a genomics project that will fund 6 leading centres and 70 individual research groups focused on bioinformatics, gene expression analysis, animal models, genotyping and proteomics. The future of genomics in Italy looks most promising in the research sector, with the fields of population genetics, molecular biology and bioinformatics flourishing in the past few years, thanks to efforts by the IIGM and ISHG.

References

  • “Italy”, Encyclopedia Britannica, 2022
  • World Bank, Italy, World Development Indicators, The World Bank Group, 2022
  • European Observatory on Health Systems and Policies. State of Health in the EU. Italy: Country Health Profile, 2021
  • Crimi, Marco et al. “Building awareness on genetic counselling: the launch of Italian Association of Genetic Counsellors (AIGeCo).” Journal of community genetics vol. 11,4 (2020): 495-496. doi:10.1007/s12687-020-00483-3