Getting Started with NGS in Your Pathology Lab

The hope

Over the last 20 years, testing for relevant, actionable genetic alterations (biomarkers) has become a necessary and routine part of the oncology patient management process. Recent publications have clearly demonstrated that the availability of the molecular or genomic profile is associated with improved patient outcomes.

 

  • For 80% (n=261) with genomic profile available before 1L treatment, median overall survival was 24.6 months.
  • For 20% (n=65) with genomic profile unavailable before 1L treatment, median overall survival was 6.2 months.1

The need for rapid NGS

As of 2025, clinical guidelines recommend genomic profiling to asses multiple biomarkers in routine practice in number of advanced cancers. In addition, it is recommended to profile for  tumour-agnostic alterations (NTRK 1/2/3, RET, BRAF, FGFR 1/2/3, TMB, MSI) in patients with metastatic cancers where access to matched therapies is available.

 


Next-generation sequencing is the solution

Next-generation sequencing (NGS) is a high-throughput sequencing technology that offers the advantage of simultaneous analysis of multiple targets from a single sample, providing comprehensive genomic profiles. It is the only method for identifying multigene molecular signatures such as tumor molecular burden (TMB) or homologous recombination deficiency (HRD). With the expected advances in genomic science, targeted panel NGS is poised to become the preferred approach for optimizing time to correct diagnosis and treatment.

Key advantages of NGS for precision oncology applications

Analyze many biomarkers and biomarker types

For example, mutations, fusions, copy number variations simultaneously with a single test

Time savings

A comprehensive molecular profile can be available in just days, empowering clinicians with critical biomarker data so individualized treatment decisions can be made sooner.

Tissue savings

NGS can provide comprehensive genomic profile results from one small sample.

High specificity and sensitivity

NGS enables detection of genomic variants even if they are present in extremely low fractions of cells in the sample (such as in liquid biopsies) and allows clinicians to distigish between possible different clones of tumor cells.

Cost and resource savings

If three or more biomarkers are required, it can become cheaper to run one NGS test than multiple single-gene methods. NGS also allows savings by streamlining training and technical experience requirements, as well as instrumentation maintenance, on one platform, which also saves on space requirements.

Reduced sample handling errors

The more tests that are performed to achieve the required result, the more potential for errors to occur. Consolidation into one NGS test can reduce those rates.


The benefits of keeping molecular testing in-house as viewed by experts from around the globe

Democratization of NGS is the key to accelerating cancer care. 

 

"Significantly shorter time to results enables faster and optimal treatment decisions."

"Small sample requirement provides biopsy stewardship, tissue saving."

"It improves care coordination between multidisciplinary teams, leading to true personalized medicine."

"Allows for the development of local expertise in biomarker testing to support the future of precision medicine."


Webinar: Rapid NGS is enabling clinicians and reducing biomarker testing costs

In this recorded webinar, learn how the Massachusetts General Hospital (MGH) Center for Integrated Diagnostics (CID) has consolidated a legacy single-gene testing system into one workflow based on fast and automated NGS to produce a rapid lung molecular testing program.

 

View this webinar to:

  • Learn from the experiences of a leading cancer center in consolidation of NSCLC biomarker testing into a Rapid Lung NGS program
  • Understand the positive implications for oncologists and patients with cancer from the oncologist point of view
  • Understand how the new consolidated workflow saves time and resources

Lauren Ritterhouse, MD, PhD

Associate Director

Massachusetts General Hospital

Ibiayi Dagogo-Jack, MD

Thoracic Oncologist

Massachusetts General Hospital

Webinar: Community-based Rapid NGS offers considerable advantages in clinical cancer care

In this free on‑demand webinar, Dr. Brandon Sheffield of Canada‑based William Osler Health System shares the organization's experience with implementing NGS in routine oncology biomarker testing.

 

In their pilot study, 578 solid tumor samples underwent genomic profiling. All testing was performed by one group of technologists within the same division of the laboratory, achieving a median turn‑around time (TAT) of three business days.

Dr. Brandon Sheffield, MD

Medical Director, Advanced Diagnostics Physician Lead of Research Department of Laboratory Medicine

William Osler Health System

References

1. Aggarwal C et al. (2023). Association Between Availability of Molecular Genotyping Results and Overall Survival in Patients With 

Advanced Nonsquamous Non–Small-Cell Lung Cancer. JCO Precis Oncol (doi:10.1200/PO.23.00191)

 

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