February 14, 2019 -- All women diagnosed with breast cancer should be offered genetic testing, according to new guidelines issued today by the American Society of Breast Surgeons.

Current practice guidelines recommend genetic testing only for certain age groups and types of cancer, and/or those with a strong family history.  The new guidelines were published today.

“Genetic testing for women diagnosed with breast cancer could be impactful,” says breast cancer specialist, Claudine Isaacs, MD, a professor of medicine at Georgetown Lombardi Comprehensive Cancer Center. “The science has rapidly advanced. Our understanding of gene variants suggests that only collecting a woman’s family history of cancer to determine the need for genetic testing misses many women whose genes harbor information that would be beneficial.” 

She says genetic testing can reveal information that could immediately impact care and also some that would play a role in the woman’s future health.

“Genetic testing could inform not only treatment decisions, but could help guide future preventive strategies for the woman, as some of the gene variants can increase the risk for other cancers in addition to breast cancer,” Isaacs says. 

She cautions, though, that proper genetic counseling is a critical piece of genetic testing so that women and their providers have a clear sense of how to act on the findings as it is unknown if or how some of the gene variants identified through testing impact cancer development.  

The American Society for Breast Surgeons said its guidelines follow a recent study published in the Journal of Clinical Oncology that found a similar rate of pathogenic genetic variants in breast cancer patients who did not qualify for testing under widely used recommendations (from the National Comprehensive Cancer Network) as those who did. An additional literature review was also conducted.

In a press statement, the society said that without routine testing, “a large number of patients with pathogenic variants remain undetected, and some patients and their family members may develop cancers that could have been prevented with testing under the new broader guidelines.” 

Isaacs agrees. “Providing genetic testing and counseling could also provide extremely useful information for the woman’s family. We know some of the gene variants are heritable. Understanding the risk posed would be important information for the woman’s immediate relatives, including parents, children and siblings, so that they can consider strategies that would reduce their risk for developing cancer.” 

Isaacs serves as medical director of the Jess and Mildred Fisher Center for Hereditary Cancer and Clinical Genomics Research at Georgetown Lombardi. The Center’s faculty conduct research and education in hereditary cancer and clinical cancer genomics, to leverage advancements in genomic medicine. Currently, several tumors, such as prostate and pancreatic cancer, are now routinely tested to learn about their genetic makeup, and cancer treatment is often selected based on those findings. 

About Georgetown Lombardi Comprehensive Cancer Center
Georgetown Lombardi Comprehensive Cancer Center is designated by the National Cancer Institute as a comprehensive cancer center — the only cancer center of its kind in the Washington, DC area. A part of Georgetown University Medical Center and MedStar Georgetown University Hospital, Georgetown Lombardi seeks to improve the diagnosis, treatment, and prevention of cancer through innovative basic and clinical research, patient care, community education and outreach, and the training of cancer specialists of the future. Connect with Georgetown Lombardi on Facebook (Facebook.com/GeorgetownLombardi) and Twitter (@LombardiCancer). 

About Georgetown University Medical Center
Georgetown University Medical Center (GUMC) is an internationally recognized academic health and science center with a four-part mission of research, teaching, service and patient care (through MedStar Health). GUMC’s mission is carried out with a strong emphasis on public service and a dedication to the Catholic, Jesuit principle of cura personalis -- or “care of the whole person.” The Medical Center includes the School of Medicine and the School of Nursing & Health Studies, both nationally ranked; Georgetown Lombardi Comprehensive Cancer Center, designated as a comprehensive cancer center by the National Cancer Institute; and the Biomedical Graduate Research Organization, which accounts for the majority of externally funded research at GUMC including a Clinical and Translational Science Award from the National Institutes of Health.  Connect with GUMC on Facebook (Facebook.com/GUMCUpdate), Twitter (@gumedcenter).

Register for reporter access to contact details