Noninvasive Molecular Diagnostics for Cancer

December 10, 2014
Noninvasive Molecular Diagnostics for Cancer
Trovagene has developed methods for isolation of the short, fragmented nucleic acids that pass through the kidneys and has created genomic and mutation panels offered through its CLIA-licensed lab. [LLEPOD/Deposit Photos]

Patricia Fitzpatrick Dimond, Ph.D.

Noninvasive molecular diagnostics based on cell-free DNA analysis are advancing as more methods have been developed to detect and quantitate nucleic acids from blood and urine. Recent studies suggest that genomic alterations in solid cancers can be characterized by massively parallel sequencing of circulating cell-free tumor DNA released from cancer cells, then excreted into urine or plasma.

Circulating tumor DNA (ctDNA) represents a promising biomarker for sensitive, specific, and dynamic detection of disease burden in cancer patients, investigators say. Additionally, ctDNA analysis allows noninvasive access to cancer genomes for tumor genotyping and monitoring of resistance mutations, enabling “liquid biopsy” from urine and plasma to assess tumor status.

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