Photo Credit: Nobi Prizue
A recent review provides practical guidance on next-gen sequencing for cancer care, aiding in interpreting genomics for personalized interventions.
Although genomics is revolutionizing cancer care, many clinicians do not use genomics tests because interpreting the results can be difficult, and they may not understand how it can benefit their patients.
“Historically, cancer genomics has not been part of oncology training, such that a substantial proportion of practicing clinicians struggle with understanding the clinical utility of tumor profiling and the interpretation of test results,” lead author Raffaella Casolino, MD, PhD, and colleagues wrote in their review article in CA: A Cancer Journal for Clinicians. They added that precision oncology programs and molecular tumor boards are limited and unable to provide expertise to the entire oncology community.
A Useful Guide for Physicians
To help bridge this knowledge gap, the authors developed a detailed guide to educate clinicians on how cancer genomics and precision oncology can improve outcomes. They explained basic genomics principles and how to interpret genomics information. They described assay technologies and sequencing processes, gave an overview of genomic biomarkers and their clinical importance, and provided practical guidance on interpreting and integrating molecular profiling in clinical decision-making.
“This is an exhaustive review of how to interpret and integrate genomic test results in clinical cancer care. From a visual review of the different types of genetic mutations that can be identified to an easy-to-use flow chart for what types of genomic testing to use, this overview includes beautiful figures that help convey these concepts in an easy-to-understand way,” said medical oncologist Heather Hampel, MS, CGC, who was not involved in the developing the document.
“As a cancer genetic counselor, I especially like the inclusion of a table of genes for which confirmatory germline testing is recommended if a pathogenic variant is detected in tumor-only genomic testing,” she added.
Next-Generation Sequencing
Precision oncology, which is expected to expand exponentially in coming years, enables experts to identify driver mutations and detect cancer cell vulnerabilities to targeted therapeutics, leading to novel diagnostics and personalized interventions in various cancers.
Among the technologies the authors describe is next‐generation sequencing (NGS). NGS enables simultaneous sequencing of multiple genes and identifies mutations, copy number variations, gene fusions, structural rearrangements, and biomarkers in one assay. NGS assays can be whole-genome sequencing or target genomic areas of interest. The American Society of Clinical Oncology and the European Society for Medical Oncology recommend NGS tumor testing as an up-front standard of care for certain advanced cancers.
NGS is the most powerful technique for comprehensive genomic analysis and is tissue-, time-, and cost-efficient, the authors wrote. When deciding whether to use NGS or other assays, providers need to consider the specific clinical context, the goal of the molecular profiling, and the available resources. For example, immunohistochemistry (IHC) and fluorescence in situ hybridization (FISH) may be appropriate technologies to identify specific mutations, especially when the target is well established and validated, such as estrogen receptor, progesterone receptor, and ERBB2 in breast cancer.
“NGS is valuable for clinical applications that require a more comprehensive and exploratory approach to identify a broader range of genomic alterations and potential therapeutic targets…In addition, NGS can be considered for cases in which IHC/FISH results are equivocal or inconclusive,” the review authors wrote.
The Need for Precision Medicine in Cancer Care
Histology (tumor)‐agnostic, genomic biomarker‐driven therapies have also been approved for advanced cancer, expanding the need for scalable genomic profiling in oncology. In addition, various novel biomarker‐guided, targeted agents are in late‐stage clinical development for metastatic and early-stage disease, the authors noted.
“It is hoped that the widespread uptake of biomarker‐informed precision oncology into routine clinical practice will ultimately improve outcomes for those living with cancer,” Dr. Casolino and colleagues concluded.
