Genetic testing-what is it? Should I be tested?

Genetic testing involves looking at a person’s genes, genetic information, family history, and other health problems for any changes to normal gene patterns and structure. Changes (known as variants) to genes may mean a patient’s risk for developing certain cancers is higher than average. It is recommended that you meet with a genetic counselor to determine what tests are most appropriate.  Your doctor can refer you to a genetic counselor.  

Reasons you may be a candidate for genetic testing can include:  

  • Unusual cases of a certain type of cancer in you or a close relative 

  • Being diagnosed with multiple types of primary cancers 

  • Multiple close family members with the same or related cancer diagnoses 

  • Diagnosis of cancer at an early age 

  • History of a genetic condition that is linked to certain cancers 

  • Certain physical exam findings which may indicate a genetic disorder 

How are these tests performed? 

You will be asked to give a sample of blood, saliva, cheek cells- with a swab, or other bodily tissue/fluid for testing. These samples may be processed at the hospital or clinic where the sample was taken and or some may be sent to outside laboratories for testing. 

Understanding the importance of your results 

Your genetic counselor will meet with you to let you know your results. The information from genetic testing can help guide your physician in planning the best treatment for your needs. Recommendations can include things such as lifestyle changes, early detection screening for other cancers, preventative surgery, etc. If you are currently in treatment, this information may be used to make sure your treatment meets your unique needs. 

Things to consider with testing 

  • Check with your insurance provider regarding coverage for genetic testing. The cost for genetic testing has gone down significantly in recent years.  In many cases, even if you do not have insurance coverage, the most you will pay out of pocket is $250 + for testing. 

  • Contact the laboratory directly to see if they offer any financial assistance programs for genetic testing. 

  • The Genetic Information Nondiscrimination Act prevents health insurance companies and employers from discrimination based on genetic information. However, this does not apply to life insurance or other disability insurances available to patients. It is recommended that you obtain or make sure you have adequate life insurance prior to genetic testing if this is important to you. 

The implications of genetic testing and its results can be overwhelming. Consider talking to a counselor to discuss any emotional or psychological concerns before and/or after testing. Our counselors at Iris by Oncohealth are here to help. It is recommended that genetic testing be done through a genetic counselor and not through direct-to-consumer testing that you can purchase on your own (e.g. 23andMe, Ancestry, etc.).  These tests may be less accurate.  A genetic counselor has professional training and experience to support ordering the appropriate tests and counsel you on the results.  Any pathogenic mutation found with commercial testing should be repeated with your genetic counselor.


Genetic Testing Fact Sheet - NCI ( 

What Happens During Genetic Testing for Cancer Risk?