The Importance of Molecular Profiling

Importance of Molecular
Profile Testing

Not all cancers are the same.
It starts with DNA.

Each cancer has its own fingerprint hidden deep within the DNA. When you and your physician understand the fingerprint of your disease, you can work together to find new options for your care. Molecular profiling can reveal that fingerprint. Learn more about Cure Forward’s diagnostic test provider partners.

There are many different terms for molecular profiling—tumor profiling; next generation sequencing; genomic testing; DNA sequencing; and gene panel testing.  These tests have different names but they all are designed to analyze DNA, RNA, and proteins.

Pink icon with pencil and person

When you know your tumor’s DNA,
more trials may be available to you

Cancer is a disease of the DNA.  It starts with mutations—changes in your DNA that affect the proteins your cells make. DNA, which is inherited from parents, is the blueprint of life in every cell. Each time cells divide some mistakes are made in copying the DNA. Any of those mistakes can become cancer.

Cancerous cells have their own unique DNA fingerprint. A molecular profiling laboratory test of your tumor can reveal that fingerprint. Then, new options may become apparent. You can use this information to find clinical trials that target your unique cancer.

Genomic Sequencing

When is a molecular profiling test useful?

There are mixed views on this topic. Some experts say that every cancer should be sequenced as early as possible, so that it can be treated in a targeted way from the outset. The more common point of view is that molecular profiling isn’t necessary for all cancers. In some cases, there is a good first-line therapy that doesn’t require complex molecular profiling.

For certain types of cancer – like pancreatic cancer, multiple myeloma, or cholangiocarcinoma – even first line therapies are often affected by molecular profiling as often approved first-line treatments are not effective. There may be chemotherapy options for scientifically complex cancers like these, but more often than not, the tumor outsmarts these treatments.

Ultimately, whether and when to pursue molecular profiling is a personal decision made by you and your physician. Molecular profiling could identify treatment options that aren’t available without a profile, so a point of view we agree with is that patients and their doctors should consider molecular profiling as soon as possible, if only to reveal options, and that based on those results, appropriate treatments or trials based on molecular targeting or immunotherapy are important to consider .

Regarding timing, molecular testing is a tool that can be used more than once. Unfortunately, because cancer is caused by DNA instability, the DNA sequence of your cancer cells can change any time, and important new mutations are most likely to change when the cancer is challenged by a course of therapy. For that reason, test results may lose relevance after a round of therapy, and repeat testing may be helpful to understand new resistances and new targets.

Cure Forward icon for searching for clinical trials, genetic mutations, and cancer treatments

How is a Test Chosen?

The most conservative approach would be to only test the genes that are known to be relevant for your cancer type. However, there are many examples where an unexpected gene mutation, one that doesn’t usually happen in that patient’s cancer type, turned out to be present in a patient’s cancer.

Exome sequencing, which reads the exon regions of all 21,000 genes, produces even larger panels, which can provide additional insights. There are also more extensive tests, which compare tumor and normal DNA By comparing the tumor and normal DNA, it is possible to properly characterize mutations. Many of the mutations in a tumor may be a reflection of simple underlying variation and may not be involved in your disease. These tests often cost more, because they are really two tests in one.  Learn more about this type of testing.

In addition to DNA or RNA, some molecular profiling tests also look at the proteins in a patient’s cancer. These tests bundle together different types of analysis, including IHC, FISH, and even mass spectrometry.

Even more detailed  cancer tests involve taking multiple core samples of a piece of tumor tissue and testing every one of them the same way or reading each base pair of DNA an average of 5,000 times. The goal is to identify subpopulations of cells that have acquired their own genetic abnormalities to grow faster or to resist therapy.

All of this matters, because testing is important for a range of treatments, including immunotherapy.

How do the Tests Work

For solid tumors, there are three strategies — test the tumor, test the tumor and normal tissue, or test cells or DNA that are circulating in the blood. If the tumor is accessible by surgery, (resection, biopsy, or needle biopsy), the tumor itself can be tested.

Your physician can work with your surgical team to pre-arrange strategies for handling your tissue to optimize your test results.

All blood cancer testing is done using a liquid biopsy, requiring a blood draw. Molecular diagnostic tests need to be ordered by your physician. You can speak with your doctor about testing options, using this information as a reference to discuss what type of testing might be right for you, and to find a suitable test provider.

How do I Pay for Molecular Profiling?

While the best decision is to get a molecular profile, because of the positive impact it can have on your outcomes, you may also have concerns about costs. You will want to consider that you may need future testing and keep in mind co-pays and deductibles as well.

Many of Cure Forward’s partner labs will work directly with your insurance to obtain full or partial payment. They are dedicated to providing molecular profiling services regardless of a patient’s ability to pay so many also offer payment assistance programs on a case-by-case basis. When you join Cure Forward, our Clinical Trial Navigators will be happy to discuss this in more detail with you.

Regarding testing locations, most labs serve all 50 states. If your doctor orders a test, a specimen will be collected and sent to the lab, wherever it is. There are hundreds of tests, so you’ll want to explore all options to find the test that is right for you, and then make a final selection with your physician. This should not be a concern for you, as Cure Forward has set up systems for rapid data delivery to your Cure Forward account for our partner diagnostic labs.

All molecular diagnostic tests need to be ordered by your physician.  Your Clinical Trial Navigator can work with you and your physician to find a suitable test provider.

Not testing means not knowing.

Clinical Trials

Innovations in advanced cancer treatment are available now.

In clinical trials, research and discovery move fast and the landscape is constantly changing. So, finding and accessing these trials can be difficult for both patients and physicians. Consider that every cancer drug available today was first proven in a clinical trial, and there are hundreds of drugs in development right now. Having a molecular profile is not required to use Cure Forward’s Clinical Trial Exchange but it can help reveal more targeted treatment options.