Trends – Epigenetic Biomarkers

In the oncology biomarker field, there are obvious trends in technology and markers as well as testing strategies. NeoGenomics’ Pharma Services, as a biomarker testing service provider, gains a unique perspective on trendspotting working with a breadth of projects across a variety of sponsor programs. One emerging and exciting trend, is the increased adoption of epigenetic markers in oncology testing. Epigenetics is generally understood as anything outside, “above” or acting upon genetics, which includes DNA base modifications, chromatin structure, as well as regulatory RNAs. Epigenetics can be distilled down to the forces acting upon DNA that impact the process of gene expression. A few years prior, epigenetic profiling was firmly an exploratory or research exercise. However in the more recent years, we’ve been hearing of groups developing epigenetic signatures for detection of cancer as well as tissue of origin detection. More recently and closer to the clinic, epigenetics has been used with ctDNA liquid biopsy NGS testing. In targeted NGS panels for therapy guidance, epigenetics offers another layer of data to draw upon when the ctDNA sequencing is uninformative. Another emerging use case for epigenetics is in the field of cancer screening where methylation markers accurately detect cancer as well as the type of cancer. These are assays for detecting cancer before it manifests within seemingly healthy individuals. These use cases are likely where epigenetics will gain clinical acclimation and favor. We will inevitably see epigenetic markers spread into more conventional testing paradigms such as tissue and heme oncology applications in the future.

Throughout the American Registry of Pathology Expert Opinions series, the focus is singular—to provide practical and useful guides to assist fellow pathologists in the pursuit of a precise diagnosis and a targeted approach for patient management.

These articles reflect the views of a group of expert practitioners in subspecialty practice.

These articles reflect the views of a group of experienced practitioners in subspecialty practice, with the goal to provide practical and useful guides to a specific diagnosis or problem area

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