All patients with breast cancer should undergo genetic testing, according to a surgeon



Genetic testing should be available for all patients diagnosed with breast cancer, according to guidelines released Thursday by the American Society of Breast Surgeons.
The professional medical society has more than 3,000 members in the United States and in 35 countries around the world. Her new recommendations follow a December study that revealed a similar rate of genetic mutations in breast cancer patients who did not meet the test criteria according to the previous criteria. and those who did it.

Dr. Peter Beitsch, co-author of this study and cancer surgeon in Texas, wrote in an email that the company had "adopted" its "research" and was rewriting its statement on genetic testing for alert their members that genetic testing should be done. made available to ALL their patients with breast cancer ".

In addition to Beitsch's work, the new guidelines are based on a thorough review of similar studies. The new guidelines also recommend reassessing breast cancer patients who have previously undergone genetic testing to search for newly identified breast cancer genes.

Previous directives established two decades ago

The initial guidelines for genetic testing of breast cancer patients were established about 20 years ago by the National Comprehensive Cancer Network, a nonprofit alliance of 28 cancer centers dedicated to the treatment of breast cancer patients. 39, improving patient care, explained Beitsch.

"At the time, we tested two genes, BRCA1 and BRCA 2," he wrote. These are tumor suppressor genes that everyone has; if a defect or mutation occurs in one or both of these genes, the risk of breast cancer is increased.

"Genetic testing was incredibly difficult and expensive, and you only need $ 5,000 to test only the two genes," he said. The guidelines "have therefore truly been designed as an economic barrier to reducing the overall cost of health care in America."

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It has since been known that 11 "major" gene mutations, including BRCA 1 and BRCA 2, can cause breast cancer, while 25 or 30 other genetic variants are also linked to the disease, said Beitsch. It is also known that 10% of breast cancers are hereditary.

Although initial recommendations have evolved over time, they have become complex and difficult to follow, according to Beitsch, co-founder of the TME Breast Care Network, a nonprofit organization focused on improving the treatment of cancer patients. breast cancer. As a result, a large number of patients with disease-causing mutations are not detected, and family members of breast cancer patients may therefore develop tumors that could have been prevented.

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Dr. Walton Taylor, president of the American Society of Breast Surgeons, also said in a statement that the cost of testing had "dropped dramatically" over time and that it could now cost less that a diagnostic mammogram with an ultrasound. In the meantime, he said, "the benefits to the patient and his family can be of vital importance."

Old guidelines more about 'exclusion'

"Unfortunately, we still see evidence that the guidelines are preventing patients from accessing this important test and the valuable information that it provides," Taylor said. "In simple terms, the guidelines are more focused on exclusion than on inclusion."

The National Cancer Institute estimates that more than 266,000 new cases of invasive breast cancer have been diagnosed in 2018 and more than 40,000 patients have died from the disease in 2018.

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The use of genetic tests to identify patients at increased risk of breast cancer allows patients to take steps to reduce this risk, including the use of chemoprevention drugs to reduce risk, enhanced or additional screening and risk-reducing surgeries, such as actress Angelina Jolie.

Beitsch said that members of the American Society of Breast Surgeons "essentially treat ALL breast cancer patients in the country." The new guidelines "should test most women with breast cancer (helping them to choose the best treatments) and their loved ones (by potentially identifying patients at risk and preventing them from contracting cancer)".


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