Next generation diagnostic molecular pathology: Critical appraisal of quality assurance in Europe

• Published in: Molecular oncology Vol. 8; no. 4; pp. 830 - 839
• Main Authors: Dubbink, Hendrikus J., Deans, Zandra C., Tops, Bastiaan B.J., van Kemenade, Folkert J., Koljenović, S., van Krieken, Han J.M., Blokx, Willeke A.M., Dinjens, Winand N.M., Groenen, Patricia J.T.A.
• Format: Journal Article
• Language: English
• Published: United States Elsevier B.V 01.06.2014; John Wiley & Sons, Inc; John Wiley and Sons Inc
• Subjects: Accreditation; Cancer; Collaboration; Deoxyribonucleic acid; Diagnostic tests; DNA; DNA methylation; Europe; Genetic testing; Genomes; High-Throughput Screening Assays - standards; Humans; Laboratories; Laboratories - standards; Medical laboratories; Molecular Diagnostic Techniques - methods; Molecular Diagnostic Techniques - standards; Molecular pathology; Mutation; Neoplasms - diagnosis; Neoplasms - pathology; Next generation sequencing; Paraffin; Pathology; Pathology, Molecular - methods; Pathology, Molecular - standards; Pathology, Molecular - trends; Patients; Precision medicine; Proficiency testing; Quality assessment; Quality assurance; Quality Control; Reproducibility of Results; Review; Reviews; Tumor cells; Tumor testing; Tumors; Europe; Molecular pathology; Quality assurance; Tumor testing; Quality assessment; Next generation sequencing; Proficiency testing
• ISSN: 1574-7891; 1878-0261
• DOI: 10.1016/j.molonc.2014.03.004

Tumor evaluation in pathology is more and more based on a combination of traditional histopathology and molecular analysis. Due to the rapid development of new cancer treatments that specifically target aberrant proteins present in tumor cells, treatment decisions are increasingly based on the molecular features of the tumor. Not only the number of patients eligible for targeted precision medicine, but also the number of molecular targets per patient and tumor type is rising. Diagnostic molecular pathology, the discipline that determines the molecular aberrations present in tumors for diagnostic, prognostic or predictive purposes, is faced with true challenges. The laboratories have to meet the need of comprehensive molecular testing using only limited amount of tumor tissue, mostly fixed in formalin and embedded in paraffin (FFPE), in short turnaround time. Choices must be made for analytical methods that provide accurate, reliable and cost-effective results. Validation of the test procedures and results is essential. In addition, participation and good performance in internal (IQA) and external quality assurance (EQA) schemes is mandatory. In this review, we critically evaluate the validation procedure for comprehensive molecular tests as well as the organization of quality assurance and assessment of competence of diagnostic molecular pathology laboratories within Europe. •Molecular pathology testing should be performed in ISO 15189-accredited laboratories.•Appropriately educated and dedicated personnel are essential.•One dedicated organization that coordinates all EQA schemes will improve efficiency.•The actions for laboratories after poor performance need standardization.