Cancer genetics

What genetic testing can tell you

Genetic testing can help find mutations in your genetic code that affect your risk of certain cancers. The cost of testing is usually covered by insurance if patients meet national criteria. This is commonly referred to as "BRCA testing" or "BRACA testing," but it can actually look for mutations in many different cancer risk genes. Even if genetic testing is negative, your risk of developing cancer may still be high, depending on other factors such as a family history of cancer. This information can help your doctor measure your cancer risk, discuss ways to reduce the risk, and arrange personalized cancer screening.

The basics

Cancer genetics looks at the genes you inherit from your parents and also at the genetic changes that occur in cancer cells.

Germline genetics describes the genes you were born with, and are tested using a blood or saliva sample. Mutations, or harmful changes in certain genes can raise the risk of different types of cancer. A positive germline result has implications for the patient and for their blood relatives.

Somatic genetic testing in a patient with cancer can look for genetic changes that develop inside a tumor. This testing is performed on a biopsy of cancer tissue. Finding certain somatic mutations can tell your oncologist which treatments are more likely to be effective.

Indications

When genetic testing should be considered

Family history of cancer

Multiple close relatives with the same type cancers, cancers diagnosed at a young age, or relatives who have a mutation in a cancer risk gene. In many cases, healthy patients who had a close relative with cancer will also qualify for testing.

Personal diagnosis

All patients with breast cancer, colon cancer, pancreas cancer, ovarian cancer and multiple other cancer types should be offered genetic testing.

Ancestry-linked risk

Patients of certain descent such as over 25% Ashkenazi Jewish ancestry also qualify for testing, even without a family history of cancer.

Concern about cancer risk

In cases where a patient does not meet national testing criteria, they may still wish to pursue panel genetic testing. This can be performed out-of-pocket for under $300.

The process

Cancer Risk Assessment

i.

Conversation

We start with your personal and family history, and discuss your concerns about cancer risk. The first visit is about understanding what you want to learn and whether testing can help you learn it.

ii.

Test selection

If testing makes sense, we choose the panel together. Different situations call for different panels, looking for mutations in 1 to up to 80 cancer genes. Insurance coverage and possible copays are part of this conversation.

iii.

Sample & results

A blood or saliva sample is collected and sent to a national testing lab. Most results return within two to four weeks.

iv.

Interpretation

We meet again to go through the results in detail. We discuss what they mean for you and for your family. Then we use that information to predict cancer risk and lay out a plan for screening for different types of cancer.

A note

“A negative result is not the same as 'no risk.' A positive result is not the same as 'you will develop cancer.' Both findings need context. That context is most of what a genetic counseling visit provides.”

— Dr. Goudar


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