NGS-Based Biomarkers

NGS-based biomarker services

Next-generation sequencing (NGS) has revolutionized the way biomarkers are discovered and measured. OHMX.bio leverages cutting-edge NGS platforms to provide comprehensive biomarker services for both early-stage research and clinical applications. NGS enables an unbiased, high-throughput approach, making it an ideal choice for identifying, validating, and monitoring genetic biomarkers.
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NGS for biomarker discovery

NGS is particularly powerful for broad biomarker discovery. By sequencing entire genomes or transcriptomes, researchers can uncover novel genomic variations, expression changes, and epigenetic modifications that may serve as biomarkers. OHMX.bio’s expertise in NGS-based discovery ensures high sensitivity and accuracy across a variety of sample types and research needs. Applications include:

Genomic Biomarkers

Detect single nucleotide polymorphisms (SNPs), copy number variations (CNVs), and other structural changes.

Transcriptomic Biomarkers

Identify differential gene expression patterns that may indicate disease states or therapeutic responses.

Epigenetic Biomarkers

Explore DNA methylation and histone modifications that play critical roles in gene regulation.

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Case study: Use of NGS in discovering biomarkers

A 2022 study (Nguyen et al. 2022, Cell) leveraging the MSK-MET cohort demonstrated the power of next-generation sequencing (NGS) in profiling over 25,000 patients with metastatic cancers across 50 tumor types. Using the MSK-IMPACT sequencing platform, researchers identified key genomic alterations, such as mutations and chromosomal instability, that were associated with metastatic burden and organ-specific dissemination patterns. The study revealed that certain cancers, like prostate and lung adenocarcinomas, exhibited a strong correlation between chromosomal instability and metastatic spread. These findings illustrate the critical role NGS plays in uncovering the biological mechanisms underlying cancer metastasis.

Additionally, the study highlighted the clinical significance of NGS-based biomarker discovery. Tumor mutational burden (TMB) and actionable alterations, such as TP53 mutations, were more prevalent in metastatic samples, underscoring their potential as indicators of advanced disease. These biomarkers can guide personalized treatment approaches, as NGS provides detailed insights into the molecular drivers of metastasis. This evidence underscores the promise of NGS in identifying biomarkers that enhance clinical decision-making and improve outcomes for metastatic cancer patients.

Nguyen, Bastien et al. 2022 Genomic characterization of metastatic patterns from prospective clinical sequencing of 25,000 patients. Cell, Volume 185, Issue 3, 563 – 575.e11
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NGS for biomarker measurement

For clinical and translational research, NGS offers precise and reproducible measurement of established biomarkers. This is particularly important for monitoring treatment responses, stratifying patient groups, or validating diagnostic panels.
Advantages include:

High Sensitivity and Specificity

Detect low-frequency variants and rare mutations with confidence.

Multiplexing Capabilities

Analyze multiple biomarkers simultaneously, reducing time and cost.

Dynamic Range

Accurately measure a wide range of biomarker expression levels.

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Advantages and challenges

Advantages of NGS

  • Comprehensive data generation for broad and unbiased biomarker discovery.
  • High-throughput capabilities for efficient analysis of large cohorts.
  • Ability to integrate multiple biomarker types (e.g., genetic and epigenetic).

Challenges of NGS

  • Data complexity and size can be overwhelming without proper bioinformatics support.
  • High costs compared to targeted methods like qPCR or ELISA.
  • Potential for false positives or negatives, necessitating robust validation steps.
OHMX.bio addresses these challenges through advanced bioinformatics pipelines, rigorous quality control measures, and decades of NGS experience.
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