Public health genomics (PHG) is an attempt to responsibly and effectively translate the rapid increases in genome-based knowledge and technologies into population health benefits (1). Recent decreases in sequencing costs and the marked progress in data science present many opportunities for the incorporation of genomic information into new strategies for clinical and public health practice. Precision medicine (PM) focuses on identifying the most effective medical intervention for patients based on their genetic and biochemical profile, as well as specific environmental and lifestyle factors (2). Impressive advances have been made in cancer, where next generation sequencing has enabled the prediction of cancer susceptibility, sensitivity to therapy, prognosis and residual disease (3). Moreover, the use of population level data on genomics and other health determinants is expected to improve health outcomes at the population level, paving the way for a field called precision public health (PPH) (4). Some emerging applications of PPH are the development of more intensive screening programs for people at greater risk of cancer, and the detection and investigation of infectious disease outbreaks (5).

To realize the full potential of these promising approaches, many countries are fostering research initiatives aimed at driving the development of public policies, guidelines and health programs for the implementation of evidence-based genomic applications (6–8). Italy is no exception, although research activities seem to have begun in a disorganized way. The task of assuring coordination of national efforts in PHG has recently been entrusted to the Inter-institutional Committee for PHG (IC), a national board established in 2022, which includes representatives from the Italian Ministry of Health (MoH), the Italian Institute of Health (ISS), the National Agency for Regional Healthcare Services (AGENAS), the Italian Medicine Agency (AIFA), and the Italian Regions, in addition to academic experts in the field (9).

In particular, the IC is responsible for supervising PHG activities throughout the country and evaluating their alignment with European priorities. For its first assignment, the IC aimed to investigate the current state of development of PHG research in Italy. Since no comprehensive repository for national PHG projects is available, a mapping exercise was performed. The aim of this paper is to describe the methods and the results of an overview of the current PHG research portfolio in Italy and to discuss its main policy implications.

This paper highlights the main features of current PHG research in Italy by the collection and analysis of national and international research projects on the topic. Overall, PHG research in Italy seems to be mainly funded by the EC and is managed by healthcare facilities and universities. Notably, three main research themes for the integration of genomics into healthcare were identified: governance, PM and PPH. The predominant theme appears to be PM, mainly in its narrowest sense, as most PM projects aim to explore the use of molecular biomarkers to guide clinical decision making, with a particular focus on therapeutic choices for cancer patients (72). By contrast, only a few PM projects embrace a broader approach, as they combine the assessment of genomic and environmental or lifestyle determinants to guide the management of patients, more often in the field of non-oncological diseases (73). While PM, in its various facets, dominates the current research portfolio, PPH is clearly the least active research area. According to our results, in Italy the integration of genomics into public health strategies has probably been boosted by the Covid-19 pandemic, as the two PPH projects retrieved relate to the genomic surveillance of viral infectious diseases, including Covid-19. In the meantime, considerable efforts seem to be underway to guarantee the governance and sustainability of the long-term implementation of PM, the third key research theme emerging from the overview. In particular, major investments in governance are being made to foster partnership and collaboration across European countries to tackle two main implementation challenges: (i) ensuring the alignment of research activities and workforce education; and (ii) enabling the sharing and use of large-scale genomic data.

To the best of our knowledge, this overview is the first attempt to portray the Italian PHG research portfolio over a specific period of time, with the ultimate aim of informing relevant national decision makers. Nevertheless, it has to be considered that, although most of the projects identified will take months and even years to conclude, the growing number of PHG research projects funded each year may rapidly change the scenario we outline here. Thus, it would be useful to regularly update the database to monitor any potential change in research investment. To this end, designing a national or international repository for PHG research projects would surely be appropriate, as this would reduce duplicated effort, improve transparency, highlight opportunities for funding and monitor progress in this quickly evolving area.

Moreover, it would be interesting to understand whether the currently funded research activities align with national and international reference standards in the field. Unfortunately, we are not aware of any updated benchmark recommendations for PHG research, either nationally or at the European level. Although the “National plan for the innovation of the Health System based on omics sciences,” published in 2017, identified seven research opportunities for the integration of omic sciences into the National Health Service, these are likely to be outdated. The opportunities identified in 2017 were: (I) Big data and computational medicine; (II) Health literacy of citizens and healthcare professionals; (III) Drug repositioning and pharmacogenomics; (IV) Primary prevention of chronic disease; (V) Secondary prevention of breast cancer; (VI) Early detection of cancer; and (VII) Undiagnosed rare diseases (74). More recently, given the need to update the plan, the National Health Council issued its own recommendations for new priorities to be addressed (75). With regard to genomics research, the main indication is to further investigate the complex interactions between genetic and non-genetic factors in the pathogenesis of disease and to include non-genetic factors in risk-assessment algorithms. This resolution is consistent with our results, as the role of environmental and lifestyle factors appears to be neglected in ongoing Italian research.

At the European level, we found no official documents on shared research priorities for PHG. Some very general directions are provided by a policy briefing recently published in the context of the 1MG project (76). The first aim of the document is to set out policy recommendations for the implementation of genomics in healthcare, some of which also concern the field of research. It is recommended that close cooperation between clinical, research and industrial partners be established to ensure that the latest advances in science and technology are captured as they arise, and that research and clinical outcomes are coordinated. A further recommendation is to implement a data management plan to facilitate sharing of genomic and health information for clinical and research purposes at regional, national and international levels. According to our results, these two proposals are already being pursued in the research projects currently ongoing in Italy.

The main limitation of our work is in the comprehensiveness of the overview, which is affected by two conditions. First, we included only projects reported by members of the IC. Indeed, nearly all projects benefit from the involvement of at least one of the consulted institutions, as a funder or executor. However, since the IC includes the main national governmental and academic institutions involved in PHG, it is expected to account for most of the ongoing activities. Nevertheless, it is worth mentioning that a government funding organization not included in the IC emerged from the overview, namely the Ministry of Research (MoR). Indeed, the commitment of the MoR to PM is being strengthened by its recent decision to assign part of the research funds provided by the National Recovery and Resilience Plan to a nationwide research partnership, called HEAL ITALIA, which aims to create a Health Extended ALliance for Innovative Therapies, Advanced Lab-research, and Integrated Approaches of Precision Medicine (77). Thus, although it is not purely a healthcare institution, the future involvement of the MoR in the IC could be considered. Second, as stated in the Methods, we included only projects financed on either an international or a national scale. In fact, the Italian national healthcare system is decentralized to 21 regional healthcare systems, with different degrees of autonomy, and just four Regions participate in the IC on behalf of all the others, making the search for regional projects flawed by a potential selection bias. For this reason, we tried to avoid the tangle of regionally funded projects by focusing on centrally funded efforts in PHG research.

As for the accuracy of the evidence provided, we confirmed all data by an internet search of official websites. Nevertheless, we cannot exclude the possibility that in some cases a lack of clear information on the projects’ aims, together with their cross-cutting nature, may have affected their inclusion or assignment to particular thematic categories, even though both the project selection and data collection were performed by at least two authors. Lastly, it should be noted that the present overview made no attempt to assess the quality of the projects retrieved or whether they met their objectives, as this was not our goal.

In conclusion, we have provided an overview of the national research portfolio in PHG in Italy, with the primary aim of informing policy makers and fostering the coordination of national efforts for the implementation of evidence-based genomic applications. We found that research investments, mainly supported by the EC, are preferentially aimed at the clinical application of PM, but significant endeavors are also underway on the governance of the complex translation of genomic innovation into clinical and public health practice. Nevertheless, this is only the first step on a challenging path toward a coordinated and sustainable research agenda. First of all, this overview should be regularly updated to keep up with the systematic launch of new research projects. Then, updated research plans should be developed to align national activities with national and international priorities and avoid unaddressed needs and waste of resources.

The original contributions presented in the study are included in the article/Supplementary material, further inquiries can be directed to the corresponding author.

EP: Writing – original draft, Conceptualization, Data curation. VB: Writing – review & editing Data curation. CI: Data curation, Writing – review & editing. PM: Investigation, Writing – review & editing. CM: Project administration, Writing – review & editing. PV: Supervision, Writing – review & editing. DG: Conceptualization, Writing – review & editing. FV: Supervision, Writing – review & editing.