Should You Have Genetic Testing Done?


Questions around genetic testing are popular among women wanting to know more about their risk for cancer.  

Who should have testing done? When should they get it? These are common inquiries Dr. Julie O’Brien, a breast cancer surgeon at Lahey Hospital & Medical Center is answering these days. 

“Does every patient need it? No. But we are learning that probably more and more patients should be referred for appropriate genetic counseling and then the decision whether or not to get the testing can be made,” O’Brien said. 

Only about 5 to 10 percent of breast cancers are inherited. However, a woman with a genetic mutation in the BRCA1 or BRCA2 gene may have an up to 80% lifetime risk for developing breast cancer. And it’s not only breast cancer, but the risk is also heightened for other cancers as well, such as ovarian cancer, depending on the mutation type.   

If women know they have these genetic mutations, it may change clinical decision making, Dr. O’Brien said. 

For patients having breast conservation with lumpectomy, this would typically be followed by radiation treatments to the breast to help decrease local recurrence. If a patient is found to have a genetic mutation in certain breast cancer genes, then their risk of future primary breast cancer would be higher than the average person. Therefore, those patients may want to consider mastectomies in that setting as patients typically cannot have radiation again to the same breast should they develop another breast cancer in that breast.  

To determine if genetic testing is right for you, a risk assessment should be completed. This is calculated based on any relatives with cancer or previous cancers you have had. If a relative has been identified with a BRCA mutation, then you may also want to explore genetic counseling and possible testing. These are just some of the factors that will help determine your risk. 

If you don’t know your family history, for example in patients who are adopted, it may be worthwhile to consider genetic counseling. Insurance companies have become more flexible in helping pay for some of the costs associated with testing.  

Genetic counseling is generally recommended before and after any genetic testing for an inherited cancer syndrome has been ordered. This counseling is provided at the Breast Health Center at Lahey Hospital & Medical Center.

“Genetic testing offers patients more information to make important health decisions,” Dr. O’Brien said. “It can assist patients and their families in taking important actions to stay healthy and potentially increase their screening for certain cancers and for some consider preventative surgery.” 

For more information on genetic testing and counseling, speak with your health care provider.

*The content on this website is for informational purposes only and is not medical advice. Please consult a physician regarding your specific medical condition, diagnosis and/or treatment.

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