Italy Healthcare Human Genomics and Genetics Sector
Italy boasts an advanced genomics R&D sector, ranking among Europe’s top performers in terms of scientific publications and citations. According to the Ambrosetti Life Science Index, Italy is second in Europe for the number of scientific publications in life sciences (56,700), first for publication citations (90,700), and third for publications in genomics.
An extensive network of public and private hospitals supports research activities, bringing research innovation into clinical applications. These, in turn, are supported by institutes dedicated to biotechnological research. One such institute is the new Human Technopole project, whose National Facility for Genomics provides cutting-edge services in various genomic areas, supporting large-scale projects, population studies, tissue-level analyses, and single-cell studies.
Italy was the first country in Europe to adopt a national plan for genomics in public health in 2012. The Italian Network for Public Health Genomics (GENISAP), which developed the plan, advises the Ministry of Health, providing recommendations and guidelines on genomic and genetic testing. Italy is also an active participant in major European initiatives, including ‘1+ Million Genomes (1+MG)’, ‘Beyond 1 Million Genomes (B1MG)’, and ‘The Genome of Europe’.
The genomic and genetic diagnostic market is developing in parallel with these intense research activities. A survey by the National Agency for Healthcare Services (AGENAS), which provides technical-scientific support to the Ministry of Health, showed that 132 public and private laboratories performed 646,643 genomic and genetic tests from 2021 to 2022. Of those laboratories, 94 also conducted research, mainly in oncology, rare diseases, predictive genomics, oncohematology and pharmacogenetics.
The regions of Lombardy, Sicily, Lazio and Veneto have the most laboratories, while Lazio, Lombardy and Tuscany perform the most tests, primarily focused on medical genetics (52.8%), pathological anatomy (19.4%), microbiology (19.7%) and clinical pathology (8%). NGS Multigene Panels (23.3%) are the most common type of genomic analysis, followed by Target Panels (mutation hotspot) (17.8%) and NGS Clinical Exosome (10.2%). Among the platforms used are Illumina (54%), Thermo Fisher (24%), Pyrosequencing (8%) and others (15%). The country also has four national biobanks and 29 hospital biobanks.
Italian and European legislation require a consultation before a geneticist can request a genetic test. Genetic testing laboratories must be accredited, adhere to specific standards, and employ specialized medical geneticists. The Italian healthcare system reimburses for testing for a limited number of specific cancers and rare diseases, and in recent years has allocated additional funds to enhance genomic profiling. Regulation and extending genomic test reimbursements are under consideration.
Opportunities for U.S firms:
The United States Department of Commerce, International Trade Administration (ITA), is organizing a Genomic and Genetic Technologies Trade Mission to Greece, Türkiye, and Italy on May 19-23, 2025.
The mission is open to U.S. firms working on innovative genomic and genetic technologies.
The objective of the mission is to help U.S. companies develop business opportunities and identify potential partners, customers, agents, and distributors in Greece, Türkiye, and Italy, as well as to facilitate connections with national research institutes and genetics labs in each of these countries.
Participants interested in attending the European Human Genomics Conference, taking place May 24-27, may opt to stay in Milan immediately after the mission. Click here for details.
For more information, please contact the U.S. Commercial Service in Italy, Commercial Specialist Kira Migliorini (kira.migliorini@trade.gov).