Next generation sequencing (NGS) is a widespread molecular biology method integrated into clinical practice to detect genetic variants, for diagnostic and prognostic purposes. The scheduled external quality assessments (EQA) is integral part of clinical molecular laboratory quality assurance. The EQA provides an efficient system to compare analytic test performances among different laboratories, which is essential to evaluate consistency of molecular test. EQA failures demands targeted corrective action plans. In this context, the complexity of the NGS techniques requires careful and continuous quality control procedures. We report a tumor BRCA1/2 (tBRCA) testing benchmark discrepancy provided by the European Molecular Genetics Quality Network in our laboratory during a round of EQA for somatic mutation testing of BRCA genes in relation to ovarian cancer. The critical analysis emerging from the tBRCA EQA is presented. We underline that harmonization processes are still required for the EQA in the molecular biology field, especially if applied to the evaluation of methods characterized by high complexity.

De Paolis, E., Concolino, P., Onori, M. E., Santonocito, C., Marchetti, C., Fagotti, A., Scambia, G., Urbani, A., Minucci, A., Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation, <<MOLECULAR BIOLOGY REPORTS>>, 2021; 48 (12): 8203-8209. [doi:10.1007/s11033-021-06812-0] [http://hdl.handle.net/10807/193850]

Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation

De Paolis;E.; Concolino;P.; Onori;M. E.; Santonocito;C.; Marchetti;C.; Fagotti;A.; Scambia;G.; Urbani;A.; Minucci
2021

Abstract

Next generation sequencing (NGS) is a widespread molecular biology method integrated into clinical practice to detect genetic variants, for diagnostic and prognostic purposes. The scheduled external quality assessments (EQA) is integral part of clinical molecular laboratory quality assurance. The EQA provides an efficient system to compare analytic test performances among different laboratories, which is essential to evaluate consistency of molecular test. EQA failures demands targeted corrective action plans. In this context, the complexity of the NGS techniques requires careful and continuous quality control procedures. We report a tumor BRCA1/2 (tBRCA) testing benchmark discrepancy provided by the European Molecular Genetics Quality Network in our laboratory during a round of EQA for somatic mutation testing of BRCA genes in relation to ovarian cancer. The critical analysis emerging from the tBRCA EQA is presented. We underline that harmonization processes are still required for the EQA in the molecular biology field, especially if applied to the evaluation of methods characterized by high complexity.
Inglese
De Paolis, E., Concolino, P., Onori, M. E., Santonocito, C., Marchetti, C., Fagotti, A., Scambia, G., Urbani, A., Minucci, A., Tumor BRCA testing in ovarian cancer and EQA scheme: our experience of a critical evaluation, <<MOLECULAR BIOLOGY REPORTS>>, 2021; 48 (12): 8203-8209. [doi:10.1007/s11033-021-06812-0] [http://hdl.handle.net/10807/193850]
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10807/193850
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