Next-generation diagnostics for precision oncology: Preanalytical considerations, technical challenges, and available technologies

Wencke Walter, Nicole Pfarr, Manja Meggendorfer, Philipp Jost, Torsten Haferlach, Wilko Weichert

Research output: Contribution to journalReview articlepeer-review

18 Scopus citations

Abstract

Molecular diagnostics as the centrepiece of precision oncology has gone through revolutionary developments over the last decade, becoming tremendously broad, deep and precise with still ongoing advancements. In the majority of scenarios, treatment selection for cancer patients without any type of molecular characterization is no longer conceivable. Considering the impact of sample quality on the reliability of molecular analyses and the importance of the results for the fate of an individual patient, it is surprising how sparsely preanalytical and analytical requirements are addressed scientifically. Standardization and rigorous quality assessment continue to play only a marginal role in the field. Within this review, we will systematically discuss influencing preanalytic parameters and technology setups affecting molecular test results. We will shed light on the specifics of different analytes, technical modalities, and analysis pipelines. The review will have a certain focus on broad molecular genetic tumour testing with next generation sequencing but will go beyond that including other molecular diagnostic modalities and will give a glimpse into the future of molecular testing.

Original languageEnglish
Pages (from-to)3-15
Number of pages13
JournalSeminars in Cancer Biology
Volume84
DOIs
StatePublished - Sep 2022

Keywords

  • Molecular diagnostics
  • Next generation sequencing
  • Preanalytics
  • Precision oncology

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