Your Doctor Recommended Genetic Testing — Here’s What That Means

If your doctor recently mentioned that you should consider genetic testing, you may have left the appointment with more questions than answers. This article is designed to fill in the gaps — to explain what your doctor is recommending, why, and what the process actually looks like.

Why Your Doctor Suggested Testing

Physicians recommend genetic testing when a patient’s personal or family history meets established clinical criteria from organizations like the NCCN. Your doctor likely identified one or more signals: a cancer diagnosis at a younger-than-typical age, a pattern of cancer in your family, a specific type of cancer commonly associated with hereditary gene variants, or ancestry from a population with higher prevalence.

Your doctor is not predicting that you have cancer or that you will get cancer. They are identifying that your history warrants a closer look.

What Genetic Testing Actually Involves

The test typically requires a saliva sample collected at home using a kit mailed to you. Your sample is sent to a certified laboratory that uses next-generation sequencing to read specific genes — typically 40 or more genes associated with hereditary cancer syndromes. Results are usually available within two to three weeks and are reviewed with a licensed genetic counselor. Learn about the complete testing process.

What the Results May Show

• Positive (pathogenic variant detected). A specific gene change was found that is known to increase cancer risk. This is actionable information.
• Negative (no pathogenic variant detected). No known disease-causing changes were found. Generally reassuring, though interpretation depends on your family history.
• Variant of uncertain significance (VUS). A change was found, but there is not enough evidence yet to determine whether it increases risk. VUS results should not be used to make medical decisions.

What About Cost and Insurance?

When a physician recommends genetic testing based on clinical criteria, insurance is more likely to cover it. Under the Affordable Care Act, genetic counseling and BRCA testing are covered with no cost-sharing for women who meet specific risk criteria. Learn about insurance coverage and privacy protections.

What If You Are Nervous?

It is entirely normal to feel anxious about pursuing genetic testing. It may help to know that the majority of people who undergo genetic testing report afterward that they are glad they were tested. Read more about facing the fear of genetic testing results.