Breast Cancer Awareness Ribbon
"There can be life after breast cancer. The prerequisite is early detection."
- Ann Jillian

A Positive Genetic Cancer Test Result: What Does it Mean?

Genetic testing screens a number of known genes related to hereditary cancers and those cancers related to cellular changes during a lifetime. The goal of every test is to determine a patient’s risk of cancer. Those who may have a family history, younger individuals of childbearing years who want to know about their genetic predisposition to cancer or patients who have already had cancer and want to know their status or treatment options often seek these tests.

Test results can help your physician to develop the appropriate treatment plan for early detection. If the results of your test indicate an increased risk for cancer, your doctor may order tests like mammograms, colonoscopy and CT scans. These types of screenings will help to determine any possible diagnosis and if needed, immediate intervention. For a cancer patient, test results can indicate if cancer has mutated which could indicate a revised treatment plan.

Cancer genetic tests are ordered through your physician and require a blood sample. For cancer risk assessment, the results are returned with one of three outcomes: a negative result, a positive result or a Variant of Unknown Significance (VUS) result.

Negative result: No clinically significant change associated with increased risk of cancer was detected in the genes tested.

VUS result: Indicates that the laboratory detected a change in tested genes though the clinical significance is not known at the time of testing. This type of result is inconclusive.

Positive result: Reveals changes in genes that increase your risk for cancer.

A positive result from your genetic screening test does not necessarily mean that you have cancer. It can mean:

  • An increased risk of developing certain cancer(s) in the future.
  • Your own risk of cancer may not be increased, but there could be increased risk in your children if they inherit an altered copy of abnormal genes from each parent.
  • A need for further testing and screening.
  • Prompting other family members to obtain genetic testing.

If you receive a positive result, there are steps you can take to lower the risk of developing cancer or early detection:

  • Get screenings at a younger age or more frequently to detect signs of cancer.
  • Change behaviors like quitting smoking and eating healthier. Adding exercise alone to your lifestyle has shown to significantly decrease the incidence of 13 major cancers as much as 30%.
  • Work with your doctor about proactive medication or surgery choices.

A positive result can lead to early detection and treatment. According a study conducted by the American Cancer Society, “the five-year relative survival rate for all cancers diagnosed during 2005-2011 was 69%.” The study also noted improvements in early detection and treatment, accounting for a 23% decrease in cancer deaths from 1991 to 2012.

Genetic counseling is often provided for those receiving a positive genetic test. A genetic counselor can help to educate and discuss further the physician’s recommendations for preventative care and screening. The counselor can provide scientific and emotional guidance and may recommend that other family members be tested depending on the results.

Find out more about genetic cancer testing.