Genomic Profiling: A New Era in Cancer Care


Finding the cancer tumor’s ‘fingerprint’ will help patients gain access to personalized healthcare.

March 7, 2022

As we gain a better understanding of cancer, we now know that it is actually hundreds of diseases, each driven by unique genomic characteristics. This knowledge has triggered a shift away from a one-size-fits-all treatment approach such as chemotherapy towards targeted therapy and personalized medicine. 

“For over a decade, we’ve been advancing a new understanding of the biology of cancer as not just one disease, but a collection of diseases. We’re just now getting to the place where we’re seeing the fruits of that labor,” said Robert Loberg, vice president and lifecycle leader for oncology and genetics at Roche Diagnostics. “Our increased understanding of cancer biology and genomic drivers is dramatically changing cancer diagnostics, leading the way to personalized cancer care.”


A new area in cancer care

To treat cancer effectively, we must understand its drivers at a molecular level. We now have more molecular information than ever before. This is due to advances in the field of sequencing. These advances have created the ability to collect and process larger amounts of data quickly, playing a crucial role in the evolution of cancer research.

With this growing knowledge, we see the beginning of a new era in cancer care. Molecular information has the potential to offer cancer patients the best chance of truly personalized cancer care by finding the most effective treatment for each patient using the strong foundations of comprehensive genomic profiling (CGP) and big data processing.

“If you look across the drug development side of our industry, you’ll notice that many of the pharmaceutical company pipelines focus on genomically-driven or at least targeted drug development strategies that require a diagnostic approach like comprehensive genomic profiling,” said Loberg. “In addition, enabling continued genomic research with diagnostic tests is critical to improving the understanding of the diversity of mutations and other alterations that drive disease.”


What is comprehensive genomic profiling

Comprehensive genomic profiling identifies DNA mutations within a tumor to determine how it behaves and grows. With a single test, comprehensive genomic profiling uses next generation sequencing to analyze a broad panel of genes to detect the four main classes of genomic alterations known to drive cancer growth: base substitutions, insertions and deletions, copy number alterations, and rearrangements or fusions. This type of molecular testing produces comprehensive patient reports with a broad and deep assessment of possible underlying oncogenic drivers.


Finding the ‘fingerprint’ of the cancer tumor

CGP is a method for finding the unique ‘fingerprint’ of each cancer tumor. Using this approach, it is possible to map an individual’s unique genomic profile, spanning several hundred different types of mutations. The insights gained can help physicians determine treatment strategies, such as targeted therapies or clinical trials, that are tailored to the patient's tumor profile, helping patients gain access to personalized healthcare.

“Not only will this continue to evolve as a realized concept of personalized medicine, but we’re now at a place where we can take these very complex and complicated diagnostics tools like comprehensive genomic profiling and distribute them to routine labs for testing,” Loberg said. “This could enable this technology to be more accessible to more patients across the country. As comprehensive genomic profiling becomes more widely available, more patients may be able to benefit from this diagnostic insight and be referred for personalized treatment of their cancer.”


Expanding access to comprehensive genomic profiling

These deep insights provide invaluable information to physicians that can help them determine the best possible treatment for each patient, even mapping their treatment journey to identify future courses of action should the disease progress. Likewise, the integration of these new data sources on a large scale can help biotech companies make more informed decisions in their research and development investments.

“Expanding access to CGP to local clinical labs that serve the majority of the patients around the world through their typical diagnostic testing portfolios allows these labs to be able to offer this exciting technology to their patient populations,” Loberg said. “To me, that’s the big step forward to really start to integrate CGP into routine patient care.”

Harnessing the promise of molecular information, developing new strategies with partners to evolve the practice of personalized cancer care, and expanding access to comprehensive genomic profiling are significantly advancing cancer care for patients.

“We’re striving to enable personalized healthcare for more patients living with cancer by making comprehensive genomic profiling essential in clinical decision-making,” Loberg said. “We believe every cancer patient around the globe should benefit from these insights to inform their care. Ultimately, we believe this will redefine the way each patient with cancer is treated.”




Robert Loberg is the vice president and lifecycle leader for the oncology and genetics team at Roche, in which he oversees development and commercialization for the next-generation sequencing and polymerase chain reaction portfolio, the clinical laboratory improvement amendments lab, and pharma partnering and services business.