Hereditary Cancer
Testing

Diagnostic Imaging Specialists of Chicago offers hereditary cancer screening to our Chicago patients who are at increased risk of hereditary cancers.

Gene panel has the ability to capture numerous gene mutations. Gene testing technology is able to identify elevated risk for multiple cancers, including: breast, endometrial, prostate, melanoma, pancreatic, colorectal, gastric and ovarian. While these genetic tests do not measure if the patient has one of these cancers, they are used to determine the patient’s risk for developing these hereditary cancers compared to those without the genetic mutation.

Who should get a genetic test?

The National Comprehensive Cancer Network provides the following guidelines for screening if the patient or their family members have any of the following:

  • Breast Cancer, Colorectal Cancer or Endometrial cancer diagnosed before the age 50
  • Several close blood relatives that have the same type of cancer
    • Ex: a mother, daughter and sisters with breast cancer
  • A combination of cancers on the same side of the family, such as 2 or more members have had:
    • Breast, ovarian, prostate and pancreatic cancers
    • Colorectal, endometrial, ovarian, gastric, pancreatic and other cancers
    • Melanoma and pancreatic
  • Have been diagnosed at any age with:
    • Ovarian Cancer
    • Male Breast Cancer
    • “Triple Negative” Breast Cancer
    • Colorectal cancer with an abnormal MSI/IHC, or MSI associated histology
    • Endometrial Cancer with an abnormal MSI/IHC
    • 10 or more Colorectal polyps

Are you eligible for genetic cancer testing?

Recommendations for patient testing are based on your personal or family history of different types of cancer. If cancer is common in your family and you are concerned about your genetic risk for the mutation, then you can fill out the Risk Assessment form (available for download on our homepage), and submit it to our email to inquire about your eligibility for the gene mutation test.

How is genetic testing completed?

The test is very simple and only takes a few minutes to complete. A sample of the patient's blood is obtained and sent to the genetic testing lab for analysis. Test results are delivered to our physician within roughly two weeks. The patient will be asked to return to our office to discuss the results and next steps.

Test results

There are three options for test results: Positive, Negative, or Variant.

What are the risks associated with hereditary gene mutations?

Harmful genetic mutations can increase a person’s chance of developing cancer. These inherited mutations are thought to play a role in about 5-10% of all cancers.

However, because each case depends on the person and their surroundings, not all patients that have inherited a genetic mutation that will develop cancer. Some people might not show effects of these mutations (incomplete penetrance) and for others, the severity of the symptoms may vary from person to person (varying in their expressivity).

Hereditary Cancer screening suggestions for genetic mutation carriers

If a patient tests positive for a gene mutation, our physician will work with them to develop a unique preventive breast cancer screening plan. This may mean more frequent screening options, medications, preventative surgery, or starting annual or semi-annual breast cancer screenings as early as age 25. Test results may be used to inform family members who may also be at risk. For other cancers (i.e. colorectal, ovarian), referrals will be provided to ensure a comprehensive care plan according to the patient’s individual risk.

Benefits of genetic testing

Patients who have a high risk of hereditary cancer will benefit from getting the hereditary cancer testing because they will be able to develop a better plan to examine, manage or prevent the development of various cancers. While most cancers are sporadic, if a mutation is present, preventive measures can be taken to reduce the likelihood of cancer developing.

What is the cost of genetic testing?

The out of pocket cost (patient responsibility) of genetic testing varies depending on the patient's insurance coverage.  In the event the test is not covered by a patient's insurance, our lab provides a self pay price of $399.

Is genetic discrimination a concern?

HIPAA protects genetic information and prohibits excluding an individual from group coverage based on genetic information.

Being BRCA positive is not considered a pre-existing condition.

Based on GINA (Genetic Information Non-Discrimination Act), it is illegal to ask about genetic testing prior to providing insurance.

The genetic testing laboratory will not release test results to anyone, including insurance plans, without the patient's written consent.

CONTACT US for more information or SCHEDULE AN APPOINTMENT