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What is germline testing?

Germline testing is done with a routine blood sample. If your oncologist decides that germline testing could be beneficial for you, you will get a referral for genetic counseling.

The genetic counselor will order the test, help you interpret the results, and give you cancer screening recommendations for you and your immediate family members.

Who should get germline testing?

Most colorectal cancer cases are not caused by heritable genetic mutations. Also, some insurance plans do not cover this type ot testing. Because of this, germline testing is usually only recommended for some patients, such as those diagnosed at a young age or at an advanced stage.

If you have questions about whether germline testing is right for you, ask your oncologist. If you have questions about how to cover testing costs, contact your insurance company or speak to the genetic counselor at your cancer center. Some testing companies have financial assistance programs for patients whose insurance does not cover test costs.

How do I interpret my results?

It’s important to discuss the results of your test with your genetic counselor to make sure you’re getting the most accurate and complete information.

To make things a bit easier, here’s a sample report:

If you look at the “results” section, this patient does not have any specific mutations that makes them more likely to get cancer.

However, this patient has a mutation in the BRIP1 gene. This is classified as a variant of unknown significance — which means it is a gene mutation that has not yet been definitely associated with cancer.

In the “interpretation” section, the report explains that there were “no known clinically actionable alterations,” which means that there is nothing for the patient to take action on at this time.

Because gene lists are constantly being updated, it’s a good idea to contact your genetic counselor annually to see if there are any changes that may affect your report.

Your report may also come with a list of screening recommendations for you and your immediate family members. The report may look something like this:

Want to learn more about germline testing?

Check out this link from the National Cancer Institute, where you can find more information.

Do you have a heritable mutation? Want to chat with other patients with a similar diagnosis? 

Come join us in COLONTOWN!

  • Tom’s Inherited Mutation Clinic is for patients with heritable mutations such as Chek2 or BRCA
  • In Lynchville, you can chat with patients and survivors with Lynch Syndrome

Interested in joining? Fill out the registration form here.

COLONTOWN University has so much more to offer, from DocTalk videos with CRC experts to easy-to-understand biomarker test breakdowns. We’re here for you! See our list of Learning Centers here.

Last updated: May 18, 2022