Genomic Health and Molecular Diagnostic Companies

Creating personalized cancer treatment

In the past, when you were diagnosed with cancer, you would receive similar treatment to those who had the same type of cancer and whose cancers were in the same stage as yours. With the advent of precision medicine, however, this has somewhat changed. Precision medicine is a form of cancer care where doctors select the most appropriate and personalized treatment for a cancer patient based on the particular genetics of the tumor and disease of the patient.

Personalizing cancer care means that each individual can be treated based on the specific genetic changes that are present in his/her tumor. A biopsy is performed on the tumor, that is, a small part of the cancer tissue is removed and taken for testing. Many times the cancer patient has already undergone some form of surgery to try to remove the cancer. In cases like this, the part of the cancer that has been removed (if stored) will be used for the test so that no subsequent biopsy surgery is required.

Goals of Genomic Testing for Cancer

  • Map out the complete genetic profile of a cancerous tumor.
  • Identify the mutations and changes that have occurred in the tumor.
  • Help the physician decide what particular treatment type or combination is best suited for the patient based on the information gathered.

Potential Benefits

There are many advantages to genomic testing for cancer, and it has been known to improve cancer outcomes. It is becoming known as a less invasive, less expensive, and less toxic alternative to chemotherapy, which poses serious side effects to patients.

This means that cancer patients can avoid getting treated with potentially life-threatening options. A report on genomic testing by the World Health Organization outlines the perfect example of this. Tamoxifen (a popular treatment for breast cancer patients) showed for patients with the SULTIA1 mutation that they did "not respond optimally" to the treatment. According to the report, some patients were "simply resistant to this drug." In other patients, however, "the wrong dosage can be lethal for the patient.” This research portrays the significantly varied range of negative effects that certain treatments can have, depending on the patient.

Finally, genomic testing for cancer also helps new and more effective cancer drugs be developed. Some examples of drugs that have been developed to treat cancers differently by targetting specific genetic changes are Imatinib (Gleevec), Trastuzumab (Herceptin), Gefitinib (Iressa) and Erlotinib (Tarceva).

Genomic Health's Method

Genomic Health is a company that provides diagnostic tests to analyze the activity of certain genes that are present in a cancer patient's tissue.

Important information about the tumor is then discovered and used to tailor the cancer patients care. Genomic Health testing is available for early and late stage breast cancer, early and late-stage prostate cancer, and colon cancer. Genomic Health diagnostic tests provide physicians and care providers answers to the following questions about the tumor and the treatment options that should be pursued:

  • How aggressive is the cancer?
  • What stage is the patient in?
  • Does the patient need surgery, radiation, chemotherapy, or a combination?

Test Types

There are several kinds of testing that Genomic Health offers to patients. Determining which test is appropriate for a patient depends on factors such as the type and stage of cancer.

Genomic Health Tests

Oncotype DX for Breast Cancer. This test analyzes the activity of 21 specific genes in the cancer tumor. It is for patients who have been newly diagnosed and have “early-stage (stage I, II or IIIa), breast cancer who have node-negative or node-positive (1-3), estrogen receptor-positive (ER+), or HER2-negative disease.” The test predicts how effective chemotherapy will be in treatment, the chances of cancer recurring in the future (called a Breast Recurrence Score), and if the cancer can be successfully treated with only hormonal therapy.

Oncotype DX for Ductal Carcinoma In Situ (DCIS). This is the second type of test for breast cancer. DCIS is a form of breast cancer that is still in its very early stages and has not spread (is non-invasive). It is for patients with this pre-invasive breast cancer and gives the treating physician information about the DCIS tumor, how it behaves, and how likely it is to recur in the same breast.

Oncotype DX for Prostate Cancer. This test helps men that have been diagnosed with early-stage prostate cancer decide the right course of treatment. Surgery and/or radiation is often prescribed for prostate cancer even though it isn’t always needed. Oncotype DX for prostate cancer helps physicians determine if the cancer is aggressive or not and predict the short and long-term possible growth and outcomes of the prostate cancer.

Oncotype DX AR-V7 Nucleus Detect Test. This test is for men who have late-stage prostate cancer. Late-stage is often treated with anti-androgen therapy—drugs that stop the cancer cells from synthesizing any male hormones. The Oncotype DX AR-V7 Nucleus Detect test helps the physician identify whether the cancer is still responsive to the anti-androgen therapies or if it has become resistant. This determines if the patient should begin a different kind of therapy.

Oncotype DX for Colon Cancer. This test predicts the risk of cancer recurrence in patients with stage II and stages III A/B colon cancer. This helps physicians decide whether or not to pursue chemotherapy treatment after surgery and if so, what kind of adjuvant therapy should be added to the chemotherapy.

Common Questions

Who can order these tests?

These genomic tests for cancer can only be ordered by a licensed healthcare professional who will first determine the usefulness or otherwise of the test in each individual patient's case.

Are the tests covered by insurance?

  • The Oncotype DX for early-stage invasive cancer is covered by Medicare and other major insurance companies like Aetna, CIGNA, United Healthcare, Kaiser Permanente, Anthem/WellPoint, Humana, Blue Cross, and Federal.
  • The Oncotype DX for DCIS is only covered by Medicare at this point.
  • The Oncotype DX prostate cancer test is covered by Medicare
  • The Oncotype DX AR-V7 Nucleus Detect is not yet covered by Medicare.
  • The Oncotype DX colon cancer test is covered by Medicare for Stage II colon cancer but only through Palmetto GBA (the national Medicare contractor for Genomic Health).

In all cases, the eligibility of the cancer patient for a specific test must first be medically confirmed before the insurance coverage will apply.

More Companies

Caris Life Sciences

This is a company that offers its Caris Molecular Intelligence® Comprehensive Tumor Profiling approach. This method discovers the genetic blueprint of a cancerous tumor and helps physicians make better treatment decisions. The profiling approach involves checking a few different factors:

  • Immune Checkpoint Inhibitors. These are drugs that restore the immune system's anti-tumor mechanism when they have been inhibited. Basically, the sensitivity of the tumors to these drugs is evaluated.
  • Microsatellite Instability (MSI). This refers to a change in the number of repetitive sequences in the DNA of certain cells.
  • Tumor Mutational Burden (TMB). This is the number of mutations that tumor cells have.

After the tumor profiling is completed, a list of cancer drugs that may be effective and have a clinical benefit is also provided.

Foundation Medicine

Foundation Medicine is a molecular insights company that has a number of tests available for cancer genomic testing.

  • Foundation One CDX. This is an FDA approved test used to map out the genomic profile of solid tumors. It analyses MSI and TMB and includes the option of PD-L1 immunohistochemistry testing (an immune-related biomarker that can be seen on the cells of the tumor). These help the physician make informed decisions on the cancer therapy to pursue. Foundation One CDX is covered by Medicare and Medicare Advantage as long as the patient with the solid tumor meets the criteria set out by the CMS (Centers for Medicare and Medicaid). According to Foundation Medicine, this test can be used for cancer such as non-small cell lung cancer, melanoma, ovarian cancer, breast cancer, colorectal cancer, and some other solid tumors.
  • Foundation One Liquid. Unlike most other cancer genomic tests that rely on the solid biopsy tissue to gather information, this particular test relies on a blood draw. It is typical for cancer patients who are already in advanced stages and it provides results on MSI and selected targetted genes. This test can be undertaken by cancer patients who have lung, breast, prostate, gastrointestinal, melanoma, or brain solid tumors. It is not covered by Medicare.
  • Foundation One Heme. This test is used to profile the genetics of sarcomas and hematologic malignancies (cancers that start in the blood-forming cells of the blood or in the immune system). The test results show the mutations in the genes and suggest available treatment therapies as well as available/fitting clinical trials. Foundation One Heme utilizes not just DNA sequencing but RNA sequencing too, and it gives information on TMB and MSI. All of this helps the physician decide the best therapy for the patient. Unlike the other two tests, Foundation One Heme can be used to test both sarcomas like Ewing sarcoma and leiomyosarcomas and non-solid tumors like leukemias, myelodysplastic syndromes, lymphomasmultiple myeloma, and myeloproliferative neoplasms.

Guardant Health

Guardant Health caters to patients whose cancer is already in the advanced stage. Their Guardant360 test provides genomic results from samples from a blood draw—this is very helpful when a biopsy is technically difficult. Guardant360 is available for different type of tumors including lung cancer.

Myriad Genetics

 Myriad Genetics is a molecular diagnostics company that has a number of options available for cancer patients to explore precision medicine.

  • EndoPredict. This is a genomic test that is used to predict recurrence probability for women with early-stage invasive breast cancer, specifically "with ER+, HER2− receptor status and who are node-negative (N0) and node-positive (N1)."
  • Prolaris Test. This test measures how fast and aggressively a patient’s prostate tumor is growing.

Availability

Theoretically, genomic testing is available to all cancer patients. Unfortunately, partly due to how expensive it is, genomic testing has not become a routine treatment for all kinds of cancers. Ultimately, it is down to the patient's physician to determine whether there is a need for it. Despite the great utility of genomic testing, the effectiveness is dependent on the individual case.

Limitations

Keep in mind that despite its benefits, genomic testing for cancer treatment has some limitations. There may not be any genetic mutation identified during the test, and even if a genetic mutation is observed, there may not be any available therapies.

Know that cancer cells change over time, so the mutation/alterations observed in a tumor at one point may change. Also, some tumors are not uniform, and because genomic testing only utilizes a small part of the tumor, mutations that exist in other parts of the tumor that aren't tested may not be discovered. This means if you’re treated with a therapy that targets the mutations identified, the cancer cells bearing the mutations that aren't discovered and targeted can likely keep growing.

A Word From Verywell

Genomic testing is a very useful and effective way of ensuring that you get the best treatment for your cancer. Discuss your options extensively with your doctor and don't be afraid to ask if its advisable for you to undergo genomic testing for your cancer. Feel free to seek a second medical opinion if you think genomic testing may be beneficial but your oncologist thinks otherwise.

In choosing the best cancer genomic testing company to use, do your research extensively—if possible, with the help of friends and family. This will help you rest assured that you are getting the best kind of testing for the particular cancer you have and the stage it is in. Finally, genomic testing for cancer can be very expensive. Make sure to confirm your insurance coverage policy.

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