Implementation of Genomic and Epigenomic Innovation in Clinical Cancer Diagnostics

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About this Research Topic

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Background

The integration of tumor genomics and epigenomics into clinical management is the foundation of precision medicine, providing guidance for the diagnosis, prognosis, and treatment of various cancers. In the last few years, the field of cancer genetic testing has evolved fast, from single gene assays and traditional cytogenetic testing to high throughput platforms such as next-generation sequencing and more recently, optical genome mapping. In addition, several genetic biomarkers are now included in practice guidelines for molecular classification, with many more being used for predictive testing. The implementation of precision medicine relies on the ability of clinical laboratories to accurately test these biomarkers and enable timely communication of the results.

The field of cancer genetics has evolved rapidly with the ongoing discovery of new biomarkers, which has expanded the arsenal of tools accessible for precision medicine. The implementation of these biomarkers into clinical practice has in turn been facilitated by the development of novel molecular and cytogenetic technologies. Clinical laboratories, in collaboration with oncologists, pathologists, and geneticists, have a responsibility to integrate these advancements to best characterize the genetic profile of various types of cancers and ultimately improve patient care.

This series will publish high-quality studies highlighting the implementation of new technologies and new cancer biomarkers into clinical practice. In addition, it will also include articles highlighting the current experience of molecular and cytogenetic laboratories offering testing in various cancers.

We welcome original Research Articles, Reviews, Case Reports or Opinion Articles, which include, but are not limited to, the following themes:

• Laboratories experience of Next Generation Sequencing testing in solid tumors and hematological malignancies

• Diagnostic approach for solid and hematological malignancies: the utility of combined cytogenetic and molecular genetic technologies

• Novel biomarkers of cancers in clinical practice: epigenetic

• The role and impact of epigenetics in tumorigenesis

• Implementation of novel technologies in laboratory practice: optimal genome mapping; use of liquid
biopsy in clinical management (diagnostic or minimal residual disease monitoring)
• Interpretation of challenges encountered in high throughput testing: managing variants with limited information in the medical literature

Please note: manuscripts consisting solely of bioinformatics or computational analysis of public genomic or transcriptomic databases which are not accompanied by validation (independent cohort or biological validation in vitro or in vivo) are out of scope for this section and will not be accepted as part of this Research Topic.

Research Topic Research topic image

Keywords: clinical laboratory biomarkers solid tumor hematological malignancy Next generation sequencing Chromosome microarray molecular diagnostics Optical genome mapping epigenetics

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