Abstract
Background
The integration of genomics into healthcare systems allows to fulfilling the potential of Personalised Medicine for patients and citizens. This demands countries to make extensive adjustments in key areas, such as technical infrastructure, health professional competencies, or ethical and legal frameworks. Effective identification of current challenges and barriers to integrating genomics in the healthcare system is crucial to define a path toward sustainable implementation.
Methods
We applied the B1MG Maturity Level Model framework to assess the maturity of the Italian national health system (NHS) in key aspects of genomics implementation. From March to June 2022, 18 experts from academic and non-academic institutions that participate in the B1MG activities rated on a 5-point scale (from ad hoc to fully implemented) the level of maturity of 49 indicators grouped into eight domains: governance (I), economic aspects (II), ethics and legislation (III), public awareness (IV), workforce skills (V), clinical organization (VI), clinical genomics guidelines (VII), and data infrastructure (VIII). From July to September 2022, consensus procedures were carried out within each domain.
Results
Italy stands at a local level of genomics implementation in most indicators, but several regional and/or national initiatives are ongoing. Genomic medicine is considered a priority but still lacks updated strategies, governance, and investment plans. The highest maturity is reached for ethical and legal aspects, followed by domain VII. There is a strong need to invest in workforce training for some health professionals, citizen engagement, and literacy. Infrastructures to improve data security and fairification are still under development.
Conclusions
We defined the status of genomics implementation in the Italian NHS, drawing a comprehensive picture of all key domains and identifying areas for investment. Regional and national initiatives currently ongoing need to be monitored.
Key messages
• Italy stands at a local level of genomics implementation in most indicators, but several regional and/or national initiatives are ongoing.
• Genomic medicine is considered a priority but lacks updated strategies, governance, and investment plans.