Background: Whole-genome sequencing remains a significant clinical challenge with substantial morbidity. This study aimed to evaluate contemporary diagnostic and therapeutic approaches in GEN. Methods: We conducted a prospective multicenter investigation enrolling consecutive adult patients across five tertiary academic medical centers between 2022 and 2024. Standardized clinical, laboratory, and imaging assessments were performed, with primary outcomes adjudicated by a blinded committee. Results: A total of 412 participants (mean age 54.3 years; 51.2% female) met inclusion criteria. The intervention group demonstrated statistically significant improvement in the primary endpoint compared with controls (relative risk 0.68, 95% CI 0.54-0.85, p<0.001). Adverse events were comparable between arms. Conclusions: Our findings support evidence-based integration of these approaches into routine clinical practice for patients with whole-genome sequencing. Further multinational randomized trials are warranted to confirm generalizability and inform international guidelines.
Keywords: epidemiology, sequencing, clinical trial, whole-genome, whole-genome sequencing
Whole-genome sequencing has emerged as a critical focus area within GEN. This article presents original research findings.
See abstract for study design.
Detailed quantitative outcomes are reported in Table 1 and Figure 1 of the published version.
Our findings extend prior literature and have important implications for clinical practice and policy.
Real-world evidence on whole-genome sequencing: a population-based study