Quality control in molecular genetics laboratory: A literature review
DOI:
https://doi.org/10.52532/2521-6414-2025-1-75-435Keywords:
molecular genetic testing, quality control (QC), BRCA1, BRCA2, polymerase chain reaction (PCR), next-generation sequencing (NGS)Abstract
Relevance: Integrating molecular biomarkers with rigorous quality control (QC) measures in laboratory settings is essential for enhancing early detection strategies and prognostic evaluation in cancer patients. Precision and QC in laboratory diagnostics of oncological diseases have become particularly significant in the widespread implementation of targeted and personalized therapy.
The study aimed to review publications evaluating quality control in biomarker identification within molecular genetics laboratories, using ovarian cancer diagnostics as a case study.
Methods: A systematic review of literature conducted in the framework of this study revealed 220 records, leading to 165 unique publications, after which 70 full-text papers were analyzed. The study followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses 2020 (PRISMA 2020) guidelines.
Results: All analyzed sources showed that Implementing QC, including calibration, internal controls, and proficiency testing provided by the College of American Pathologists (CAP), significantly reduces errors despite ongoing funding constraints. The European Molecular Quality Network (EMQN) and CAP jointly offer proficiency testing programs to evaluate laboratory performance globally, ensuring consistency and reliability in testing outcomes.
Conclusion: Ensuring the accuracy and reliability of molecular diagnostic tests is critical in clinical settings, particularly for conditions such as ovarian cancer, where precise genetic analysis informs both diagnosis and treatment. Further advancements in early detection and personalized treatment can be achieved by integrating emerging technological innovations within robust QC framework, ultimately improving patient outcomes. Consequently, the establishment of standardized guidelines and standard operating procedures for molecular genetic testing, with a specific focus on the molecular genetic diagnosis of ovarian cancer, is imperative.
