Clinical implementation of next-generation sequencing in tertiary health system: the Rijeka retrospective study.

Next-generation sequencing achieved a 27.2% diagnostic yield in 353 patients at a tertiary health system, confirming 83 disorders across 71 genes.

• Why it matters: Accurate genetic diagnosis is crucial for personalized treatment but remains challenging due to limited integration of advanced sequencing methods in clinical practice.
• What they did: The study retrospectively analyzed 412 patients referred for exome sequencing from 2018 to 2023, with 353 undergoing testing and identifying diagnostic variants in nearly a third of cases.
• The result: Findings demonstrate that NGS effectively enhances diagnostic accuracy in a clinical setting, and ongoing specialization in medical genetics is expected to further improve outcomes.