Next-generation genetic testing: a lifeline for cancer

These tests are based on next-generation sequencing (NGS), which can provide a faster analysis of cancer-associated genes in patients, allowing treating physicians to define the most suitable therapy.

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Therefore, on May 9th, Pfizer and Thermo Fisher Scientific joined forces to make this technology accessible to patients in over 30 countries in Latin America, Africa, the Middle East, and Asia.

According to the World Health Organization (WHO), cancer is one of the leading causes of death worldwide, responsible for nearly 10 million deaths in 2020, approximately one in six deaths. Breast and lung cancer accounts for almost 4.5 million deaths worldwide. By 2040, the global cancer burden is expected to increase to 27.5 million new cases and 16.3 million deaths.

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For a better outlook

To reverse this trend, Thermo Fisher will identify local laboratories that will utilize their NGS technology, and verify their infrastructure, personnel, and quality control measures, while Pfizer will promote patient access to NGS testing through raising awareness among healthcare professionals.

"In a perfect world, anyone facing a cancer diagnosis would have access to vital tests that could identify them with an appropriate and optimized treatment plan and better inform their care. Today, our goal is to bring rapid NGS testing to more decentralized labs, closer to where patients are treated," said Garret Hampton, President of Clinical Sequencing and Oncology at Thermo Fisher Scientific.

"We are one step closer to providing precision insights to underserved patients so they can receive more personalized care, regardless of where they are in the world," he added.

"The better we understand the complex science underlying cancer, the better we can treat it. Our experience has taught us that cancer cannot always be treated broadly and often requires an individualized approach based on the precise characteristics of the disease," stated Nick Lagunowich, Global President of Emerging Markets at Pfizer. He lamented that "in many parts of the world, access to next-generation sequencing may be limited or inaccessible for cancer patients. This program aims to improve their journey to treatment and help increase their chances of better outcomes."

Time-saving efforts

Historically, single-gene tests have been used to match patients with appropriate targeted therapies. However, this process can be time-consuming if sequential testing is needed, and there may not be enough tissue available for all tests, requiring additional biopsy procedures.

As more targeted therapies become available that can be identified through a broader set of genomic markers, next-generation sequencing is rapidly replacing sequential single-biomarker testing. By analyzing a single tumor tissue or blood sample for multiple biomarkers simultaneously, NGS can provide clinical teams with rapid and actionable genomic information to aid in making precision oncology treatment decisions for eligible individuals.

A retrospective observational study with real-world data analyzed newly diagnosed stage IV non-small cell lung cancer patients and found that outcomes, such as overall survival and time to subsequent treatment, were significantly compromised if actionable mutations were identified after initiating systemic treatment (e.g., chemotherapy and immunotherapy). When treatment was initiated based on molecular results, individuals achieved better outcomes, supporting the need for rapid molecular testing to make better treatment decisions.