New Breast Cancer Screening Guidelines Build on Progress

As a genetic counselor working in oncology for 23 years, I’ve seen amazing progress in treating people through personalized medicine. We’ve begun to see less cancer in relatives of people with the disease because knowing their family history has prompted them to take steps to reduce their risk.  And we’re seeing earlier diagnoses because of more frequent and improved cancer screenings.

Genetic testing has become a routine part of cancer care, and new information and testing options become available every day. Over the past few years, the indications to consider genetic testing have expanded rapidly.

Recently, the National Comprehensive Cancer Network (NCCN) guidelines for breast cancer genetic testing were updated. These guidelines help physicians determine the best treatment plan for each patient based on evidence and standard of care. These updated guidelines suggest that women and men with recurrent breast cancer or metastatic breast cancer should strongly consider genetic testing because up to 12 percent of these patients will learn they have an inherited risk factor. 


The impact of the new guidelines

This is important for a few reasons.  Breast cancers that occur due to a mutation in one of several breast cancer genes may respond well to specific chemotherapies such as platinum or PARP inhibitors, possibly giving people additional options to treat the cancer.

A person can live for several years with metastatic breast cancer, so genetic test results may also be useful to determine if that person has an increased chance of developing another type of cancer over his or her lifetime.  If so, it may be reasonable to discuss risk reduction or screening with the oncology care team as this information may also be used in the treatment plan.

In addition, the test results may help other family members define their cancer risks, and if necessary, start screening earlier and more often, or consider risk reduction options.  Once a gene mutation is identified, anyone related by blood may want to consider undergoing testing themselves to determine whether they also inherited an increased chance of developing cancer or if their cancer risks are similar to someone in the general population.

People want to take steps to protect their health, particularly when they know those steps can actually make a difference.  Thanks to advances in genetic testing and our better understanding of how cancers behave, those steps increasingly are paying off.


How a genetic counselor can be involved

Genetic counselors are a part of the oncology team and can be a resource for you and your doctors and other healthcare providers.  We can help answer your questions and determine if you and your family would benefit from genetic testing.  You can find a genetic counselor to speak to either in person or on the telephone at


Joy Larsen Haidle, MS, LGC, is a past-president of the National Society of Genetic Counselors, an NSGC Cancer Expert and a genetic counselor at North Memorial Health Cancer Center.

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