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Updated: Jun 25, 2026

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids

Detection and Monitoring of Tumor Associated Circulating DNA in Patient Biofluids

Published on: June 8, 2019

Microarray-based genomic DNA profiling technologies in clinical molecular diagnostics.

Yiping Shen¹, Bai-Lin Wu

¹Children's Hospital Boston, Boston, MA 02115, USA.

Clinical Chemistry

|February 24, 2009

Summary

This summary is machine-generated.

Microarray-based genomic DNA profiling (MGDP) is revolutionizing diagnostics by detecting genomic imbalances. Further research on copy number variants (CNVs) will enhance understanding of genetic risk factors and novel discoveries.

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Area of Science:

Genomics and Molecular Diagnostics
Medical Genetics
Bioinformatics

Background:

Microarray-based genomic DNA profiling (MGDP) technologies are transitioning from research to clinical diagnostics, offering significant advantages in identifying genomic imbalances.
These imbalances are linked to various genomic disorders and single-gene diseases, highlighting the clinical utility of MGDP.
Copy number variants (CNVs), detected via MGDP, are a frequent cause of diverse clinical phenotypes, presenting interpretation challenges.

Purpose of the Study:

To review the development and applications of major microarray platforms used in academic and commercial settings.
To discuss the growing importance of comprehensive oligonucleotide microarray platforms, including comparative genomic hybridization and genotyping arrays.
To emphasize the need for broad surveys of CNVs in both healthy and patient populations to improve understanding and identify genetic risk factors.

Main Methods:

Discussion of major array platforms, focusing on oligonucleotide microarrays (comparative genomic hybridization and genotyping arrays).
Analysis of the analytical validity, flexibility, and manufacturing advantages of comprehensive microarray platforms.
Consideration of data from healthy populations and clinical laboratories to interpret CNVs.

Main Results:

Comprehensive oligonucleotide microarray platforms are emerging as preferred methods due to their analytical validity and flexibility.
The widespread presence of CNVs necessitates extensive population data for accurate interpretation.
MGDP technologies are rapidly evolving, with ongoing clinical validation of various array designs and platforms.

Conclusions:

MGDP technologies are in an early but rapidly advancing stage for molecular diagnostics.
Extensive clinical validation and utility evaluation are crucial for different array designs and platforms.
CNVs of unknown significance represent a promising area for future genetic discoveries.