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Advanced genomic testing

This page was reviewed under our medical and editorial policy by

Maurie Markman, MD, President, Medicine & Science

This page was updated on April 21, 2022.

Advanced genomic testing is designed to help identify the DNA alterations that may be driving the growth of a specific tumor. Information about genomic mutations that are unique to your individual cancer may help doctors identify treatments designed to target those mutations.

The traditional approach to cancer care defined the disease and its treatment by its location—cancer in the breast is breast cancer; cancer in the lung is lung cancer. Cancer treatment has typically followed a similarly generalized line of attack. In recent years, researchers and physicians have found that a cancer in one patient may not behave the same way in another patient. Some cancers even bear similarities to cancers that were once thought to be completely different. A breast tumor, for example, may look and act like a lung tumor. By looking at the tumor’s profile with genomic testing, physicians may be able to recommend a drug or protocol not previously considered.

Who benefits?

Precision cancer care is an evolving science, and advanced genomic testing is not appropriate for every patient. Even when the test is recommended, it may not produce results that lead directly to a treatment plan. The analyses may help doctors consider more precise therapies in many cases, but not all mutations can be matched with known treatment options.

Doctors may recommend the tests to patients whose cancer did not adequately respond to a treatment plan prescribed for their tumor, whether it was a particular chemotherapy regimen, radiation and/or surgery. The tests may also be appropriate for patients with certain rare cancers or other unusual circumstances, to offer further options or clarity in the search for a more targeted treatment plan.

Whether genomic testing is right for you is a decision you make with your medical team based on your individual situation.

How it works

If you and your oncologist decide you are a candidate for genomic testing, here’s how the process would work:

  • A biopsy will be taken of your tumor.
  • Cancer cells will be isolated and extracted from the biopsy, then their DNA will be sequenced in the lab.
  • Highly sophisticated equipment will be used to scan the sequenced genetic profile for abnormalities that dictate how the tumor functions.
  • The abnormalities will be analyzed in a lab to determine whether they match known mutations that may have responded to therapies or where evidence suggests there may be a potential treatment option not previously considered.
  • If there’s a match, your oncologist may be able to use the results to suggest treatments that have been used in the past to target the same mutations.
  • Your oncologist will explain the results to you and any indications for new treatment options, and together you will formulate a treatment plan targeted to your individual situation.
  • If you or your caregivers have additional questions, we will offer resources and educational guidance on this emerging field of medicine.

The promise of advanced genomic testing

The roots of advance genomic testing can be traced to the completion of the Human Genome Project in 2003. Researchers mapped the entire human genetic code, discovering that every human cell is packed with an estimated 20,000 to 30,000 genes. This marked a dramatic shift in the understanding of cancer and other diseases. Researchers have used the discoveries to link dozens of diseases, such as Alzheimer’s disease and inherited colon cancer, to specific genes.

In recent years, researchers have taken the advancements one step further, with genomic tests of the cancer itself. These even more targeted assessments study the DNA profile of the patient’s tumor, searching for genetic abnormalities that can be matched to drug therapies that may not have otherwise been considered.

This shift in thought and approach is toward truly precision cancer care. Instead of one-size-fits-all medicine, which can lead to unnecessary and even harmful treatments for some patients, advanced genomic testing devotes its attention to studying a single individual—the patient whose tumor is being tested.

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