The Institutional Framework of Genetic Diagnostics within the Italian National Health Service (SSN)
The delivery of genetic services in Italy is primarily organized through the Servizio Sanitario Nazionale (SSN), which operates under a decentralized model managed by 21 Regional Health Systems.
Diagnostic genetic testing is classified as an "Essential Level of Care" (Livelli Essenziali di Assistenza or LEA), ensuring that citizens have access to genomic services largely free of charge or with a small co-payment, known as a ticket.
Genetic testing in Italy is concentrated in specialized referral centers, primarily University Academic Hospitals and IRCCS (Instituti di Ricovero e Cura a Carattere Scientifico). These institutes are unique to the Italian system, serving as clinical research centers that integrate advanced patient care with translational research. For a genetic test to be performed within the SSN, it must be prescribed by a specialist (e.g., a geneticist, neurologist, or oncologist) who assumes responsibility for the clinical indication. This institutional structure ensures that complex genomic data, such as Next-Generation Sequencing (NGS) panels and Clinical Exome Sequencing (CES), are interpreted by multidisciplinary teams within accredited public or private laboratories.