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The Next Generation of NGS

With every leap forward in medical technology, we’ve made great strides toward targeted therapies for cancer. The power and reducing cost of next-generation sequencing (NGS) has certainly played its part in helping physicians make more informed decisions during the diagnosis-to-treatment journey. And yet, despite clear benefits, less than half of patients who qualify end up getting their tumors sequenced, according to a 2021 study (1). Here, Garret Hampton explores how this gap can be addressed and what the future holds for patient care.

How much of a difference can genomic sequencing make to cancer patient outcomes?

Genomic sequencing can have a profound impact on patient outcomes and can hold the key to unlocking a world of more precise, tailored care based on their cancer’s unique genomic profile. A real world study found that, when genomic testing results were available to inform treatment decisions for patients with cancer, they had better outcomes – including a 95 percent median overall survival rate (2). The study also pointed to the dangers of prescribing a one-size-fits-all treatment before NGS results are available. Molecular testing through rapid NGS is a critical first step in determining the best course of treatment for cancer patients and can be vital to improving survival rates. 

Why might some patients not receive this kind of care?

Unfortunately, there are many reasons why patients don’t receive genomic sequencing or, if they do, the results are not used to inform their care. But at the front of my mind are i) the slow adoption of broader genomic testing coverage with commercial payers, ii) gaps in clinical practice – failures as simple as not ordering the proper genomic tests, lack of awareness of FDA-approved indications, lack of trained personnel, iii) limited access to in-house genetic testing technology, and iv) inconclusive testing results and extended turnaround times. In some cases, even when the proper tests are ordered, delays in turnaround time mean that urgent treatment decisions must be made without these insights. And that could mean the patient is put on a less-effective treatment when they may have been matched to a more targeted option otherwise.

We’re actively working to overcome these hurdles by partnering closely with oncologists, pathologists, and pharmaceutical companies to ensure each stakeholder understands the central role of NGS in delivering the best possible cancer care. Automated testing equipment that delivers rapid results help us lower the threshold for adoption by offering a much easier workflow for in-house teams and ensures results are available to help inform care decisions. This automated solution greatly minimizes the need to train lab professionals on how to perform NGS tests.

What are the ramifications for patients who miss out on sequencing?

Electing to skip NGS testing or following a workflow that delivers results after care decisions are made can mean the difference between a patient being put on a targeted therapy versus standard first-line treatment, which may prove less effective. With targeted therapies, clinical teams have the opportunity to put eligible patients on a potentially less invasive treatment option, which could improve overall patient adherence to their treatment. However, if a patient is put on a suboptimal treatment first, that may make them ineligible for some targeted therapies in the future – making it paramount that testing and results are available to inform care from the beginning.

What can oncologists and pathologists do to bridge this gap?

To make the most of genomic testing, oncologists, and pathologists need to stay aware of the latest NGS testing options. They must educate their internal teams and patients on the benefits of comprehensive biomarker testing, along with recently approved targeted therapies, to help them deliver on the long-promised potential of personalized medicine. 

To close the genomic testing gap for cancer patients, I would encourage oncologists to adhere to recommendations (2) by major medical professional societies that recommend genetic sequencing for all people diagnosed with advanced lung and colon cancer. I advise getting familiar with types of genomic tests and gaining awareness of locally approved companion therapies to ensure they order the proper genomic test for their patients. They may also consider implementing a system that can automatically prompt cancer genomic testing for eligible patients. This, in turn, could help identify patients who may benefit from targeted cancer treatments and may even be eligible to participate in a clinical trial.

Oncologists and pathologists have the potential to leverage each other’s expertise to become a patient’s dream team. A pathologist’s experience in tissue handling, processing, and reporting plays a crucial role in cancer care and this experience can be amplified by employing genomic testing technology to obtain actionable insights that can help oncologists make more informed treatment decisions for their patients and alert of future tumors.

At major academic medical institutions, the addition of rapid, in-house NGS has dramatically sped up time to treatment. The value of this time is hard to overestimate for patients. Now, more than ever, oncologists and pathologists should commit to harnessing the power of genomic testing to improve patient outcomes and survival.

What call to action would you give to pathologists and lab professionals in light of the access gap?

Genomic sequencing is already revolutionizing labs and advancing personalized medicine. Pathologists need to grasp on to the new technological advancements in their field and become experts on employing them with the ultimate goal of partnering with clinical teams to advance cancer care. They have the opportunity to champion genomic testing, close the gap in training and education, and ensure all patients have access to the appropriate genomic testing so they can be matched with the right therapy, right away. 

With groundbreaking new therapies surfacing, we need accessible, rapid genomic testing now more than ever – only then can the promise of personalized medicine be kept.

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  1. K Weintraubusa, “DNA sequencing can lead to longer, better lives for cancer patients. But why do so few get it?” USA Today (2023).
  2. JA Scott et al., “Real-world testing and treatment patterns among patients with stage IV non-small cell lung cancer: A retrospective observational study,”  Poster presented at the 2023 ASCO Annual Meeting May 31–June 4; Chicago, USA. 9030.
About the Author
George Francis Lee

Deputy Editor, The Pathologist

Interested in how disease interacts with our world. Writing stories covering subjects like politics, society, and climate change.

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