Next generation diagnostic molecular pathology: critical appraisal of quality assurance in Europe.
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.
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands.
Hendrikus J
HJ
Dubbink
UK NEQAS for Molecular Genetics, Department of Laboratory Medicine, The Royal Infirmary of Edinburgh, Edinburgh, United Kingdom.
Zandra C
ZC
Deans
Department of Pathology, Radboud University Medical Center, PO Box 9101, Nijmegen, The Netherlands.
Bastiaan B J
BB
Tops
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands.
Folkert J
FJ
van Kemenade
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands.
S
S
Koljenović
Department of Pathology, Radboud University Medical Center, PO Box 9101, Nijmegen, The Netherlands.
Han J M
HJ
van Krieken
Department of Pathology, Radboud University Medical Center, PO Box 9101, Nijmegen, The Netherlands.
Willeke A M
WA
Blokx
Department of Pathology, Erasmus MC, University Medical Center Rotterdam, PO Box 2040, 3000 CA Rotterdam, The Netherlands.
Winand N M
WN
Dinjens
Department of Pathology, Radboud University Medical Center, PO Box 9101, Nijmegen, The Netherlands. Electronic address: Patricia.Groenen@radboudumc.nl.
Patricia J T A
PJ
Groenen
D005060:Europe; D057166:High-Throughput Screening Assays / Q000592:standards; D006801:Humans; D007753:Laboratories / Q000592:standards; D025202:Molecular Diagnostic Techniques / Q000379:methods* / Q000592:standards; D009369:Neoplasms / Q000175:diagnosis* / Q000473:pathology; D057089:Pathology, Molecular / Q000379:methods* / Q000592:standards / Q000639:trends; D011786:Quality Control; D015203:Reproducibility of Results
Molecular pathology; Next generation sequencing; Proficiency testing; Quality assessment; Quality assurance; Tumor testing