New guidelines recommend genetic testing for all breast cancer patients

Genetic testing should be available for all breast cancer patients to determine hereditary risk in addition to standard imaging exams, according to new guidelines published Feb. 14 by The American Society of Breast Surgeons.  

The new recommendations are based on an extensive review of supporting research, especially a study published in the Journal of Clinical Oncology in December which found that patients who met existing National Comprehensive Cancer Network (NCCN) clinical testing criteria had similar rates of genetic mutations in breast cancer genes as patients who did not meet the criteria.  

The new guidelines also recommend re-evaluating breast cancer patients who have already underdone genetic tests to check for any new breast cancer linked-genes.  

The American Society of Breast Surgeons said in a recent statement that there are “fewer barriers” to genetic testing than ever before, with testing now “lest costly and being offered by more labs.” Limited availability of genetic testing in the U.S. for patients and their family members still remains an issue but increasing access could be lifesaving.  

“Breast surgeons are well positioned to be a resource for patients who may benefit from testing,” according to the statement. “Breast surgeons can identify individuals who are suitable for testing, inform patients of the risks and benefits, provide access to genetic testing, and also discuss risk management strategies for those patients who test positive.”  

It's been two decades since the original guidelines for the genetic testing of breast cancer patients were established by the NCCN, but they only required testing for two genes that can increase the likelihood of breast cancer—BRCA1 and BRCA2.  

"Genetic testing was incredibly difficult to do and expensive; it cost about $5,000 to just test the two genes," Peter Beitsch, MD, co-author of the Journal of Clinical Oncology study and a cancer surgeon in Dallas, told CNN in an email. “[Those guidelines] originated really as an economic roadblock to try to decrease the overall cost of health care in America." 

Beitsch also told the news outlet it has since become known that 11 primary gene mutations, including BRCA1 and BRCA2, can cause breast cancer and 25 or 30 other genetic variants are also linked to the disease. But as the guidelines evolved overtime, they became difficult for clinicians to follow and resulted in less patients and their family members undergoing preventative testing.  

According to recent statistics from the Susan G. Komen Breast Cancer Foundation, it’s estimated that 268,600 new cases of invasive breast cancer will be diagnosed in women this year alone. Of these cases, there will be an estimated 41,760 deaths.  

Using genetic testing to identify patents at increased risk of breast cancer encourages patients to take earlier step to reduce risk, including undergoing screening mammography or risk-reducing surgeries.  

“We applaud the ASBrS for recognizing important advances in scientific knowledge, and for recommending genetic testing for all people with breast cancer,” said Johnathan Lancaster, MD, PhD, chief medical officer of Myriad Genetics, in a prepared statement. “The valuable information provided by genetic testing enhances physicians’ ability to select appropriate precision treatments, personalize care for patients and their families and improve health outcomes.”