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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.
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 (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.
For example, mutations, fusions, copy number variations simultaneously with a single test
A comprehensive molecular profile can be available in just days, empowering clinicians with critical biomarker data so individualized treatment decisions can be made sooner.
NGS can provide comprehensive genomic profile results from one small sample.
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.
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.
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.
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."
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.
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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.
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)
CN: 64929