Standardization and Metrological Advancements in Cellular and Genomic Diagnostics for Cancer

A special issue of Cells (ISSN 2073-4409).

Deadline for manuscript submissions: 31 December 2025 | Viewed by 344

Special Issue Editors


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Guest Editor
Division of Advanced Materials Metrology and Life Sciences, Istituto Nazionale di Ricerca Metrologica (INRIM), 10135 Turin, Italy
Interests: cancer genomics; assay standardization; precision medicine; molecular profiling; therapeutic targets

E-Mail Website
Guest Editor
Division of Advanced Materials Metrology and Life Sciences, Istituto Nazionale di Ricerca Metrologica (INRIM), 10135 Turin, Italy
Interests: translational medicine; precision medicine; therapeutic targets; molecular profiling; high-throughput technologies

Special Issue Information

Dear Colleagues,

Precision medicine in oncology is rapidly advancing with genomics and cellular analyses, driven by technologies such as next generation sequencing (NGS) and high-resolution cellular assays. These advancements enable earlier and more precise diagnoses and improve targeted therapies. However, substantial variability in testing quality and comparability remains a significant barrier, affecting patient outcomes and the implementation of innovative diagnostic methods. This Special Issue addresses the development of standardized tools and approaches to ensure the quality and consistency of both genomic profiling and cellular analyses in cancer diagnostics. Topics include the establishment of reference measurement systems (RMSs), SI-traceable reference materials, and protocols to assess measurement uncertainty. Submissions on metrological approaches, reference methods and materials, and standardization strategies for both cellular and genomic cancer diagnostics are highly encouraged.

Dr. Jessica Petiti
Dr. Marika Fava
Guest Editors

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Keywords

  • cancer diagnostics
  • cellular analysis
  • genomic profiling
  • precision medicine
  • metrology in diagnostics
  • next generation sequencing (NGS)
  • reference measurement systems (RMSs)
  • quality assurance (QA)
  • IVDR compliance
  • SI-traceable standards

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Published Papers (1 paper)

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Research

15 pages, 861 KB  
Article
Multiplexed Digital PCR Reference Gene Measurement for Genomic and Cell-Free DNA Analysis
by Dilek Yener, Eloise J. Busby, Jo Vandesompele, Gertjan Wils, Susan D. Richman, Henry M. Wood, Jim F. Huggett, Carole A. Foy and Alison S. Devonshire
Cells 2025, 14(19), 1544; https://doi.org/10.3390/cells14191544 - 3 Oct 2025
Abstract
Precision medicine approaches rely on accurate somatic variant detection, where the DNA input into genomic workflows is a key variable. However, there are no gold standard methods for total DNA quantification. In this study, a pentaplex reference gene panel using digital PCR (dPCR) [...] Read more.
Precision medicine approaches rely on accurate somatic variant detection, where the DNA input into genomic workflows is a key variable. However, there are no gold standard methods for total DNA quantification. In this study, a pentaplex reference gene panel using digital PCR (dPCR) was developed as a candidate reference method. The multiplex approach was compared between two assay chemistries, applied to healthy donor genomic DNA and plasma cell-free DNA (cfDNA) to measure the ERBB2 (HER2) copy number variation in cancer cell line DNA. The multiplex approach demonstrated robust performance with the two assay chemistries, demonstrating comparable results and a wide dynamic range. Ratios of reference genes were close to the expected 1:1 in healthy samples; however, some small but significant differences (<1.2-fold) were observed in one of the five targets. Expanded relative measurement uncertainty was 12.1–19.8% for healthy gDNA and 9.2–25.2% for cfDNA. The multiplex approach afforded lower measurement uncertainty compared to the use of a single reference for total DNA quantification, which is an advantage for its potential use as a calibration method. It avoided potential biases in the application to CNV quantification of cancer samples, where cancer genome instability may be prominent. Full article
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