Genetic testing is a cornerstone of care for patients with suspected hereditary conditions and cancer.
Rare Diseases: Italy has a robust framework for diagnosing rare diseases, including Inborn Errors of Immunity (IEI). For patients with a strong clinical suspicion, the regional health systems often cover the full cost of analysis, including Next-Generation Sequencing (NGS) and Clinical Exome Sequencing (CES).
Oncogenetics: Testing for hereditary cancer risks, such as mutations in the BRCA1 and BRCA2 genes, is widely available. These tests help identify individuals at higher risk and guide personalized prevention and treatment plans.
Pharmacogenetics: This area focuses on how a patient’s genetic makeup affects their response to specific medications, particularly in oncology, to ensure the most effective and least toxic treatments are chosen.