Barriers to genetic testing need to fall as knowledge of inherited cancer risks grows, surgeons say.
Genetic testing should be made available for all patients diagnosed with breast cancer, according to guidelines published Thursday by the American Society of Breast Surgeons.
The professional medical society has more than 3,000 members in the United States and 35 countries throughout the world. Its new recommendations follow a December study that found a similar rate of genetic mutations in breast cancer patients who did not qualify for testing under previous criteria and those who did.
Dr. Peter Beitsch, a co-author of that study and a cancer surgeon practicing in Texas, wrote in an email that the society has "embraced" his research "and is rewriting their genetic testing statement to alert their members that genetic testing should be made available to ALL their breast cancer patients."
Along with Beitsch's work, the new guidelines are based on an extensive review of similar studies. The new guidelines also recommend re-evaluating breast cancer patients who underwent genetic tests in the past to check for newly identified breast cancer-linked genes.
Previous guidelines established two decades ago
The original guidelines for the 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 improving patient care, Beitsch explained.
"Back then we tested for 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 likelihood of breast cancer is increased.
"Genetic testing was incredibly difficult to do and expensive; it cost about $5,000 to just test the two genes," he said. The guidelines, then, "originated really as an economic roadblock to try to decrease the overall cost of health care in America."
It has since become 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, Beitsch said. It is also known that up to 10% of all breast cancers are hereditary.
Though the original guidelines evolved over time, they became complex and difficult to follow, according to Beitsch, who is a co-founder of the TME Breast Care Network, a nonprofit focused on advancing treatment for breast cancer patients. As a result, a large number of patients with disease-causing mutations go undetected, and so family members of breast cancer patients may develop tumors that could have been prevented.
Dr. Walton Taylor, president of the American Society of Breast Surgeons, also noted in a statement that the cost of testing has "dropped dramatically" over time and now "can cost less than a diagnostic mammogram with an ultrasound." Meanwhile, he said, "the benefit to the patient and the patients' family can be lifesaving."
Old guidelines more about 'exclusion'
"Unfortunately, we still see evidence that the guidelines deny patients' access to this important testing and the valuable information it provides," Taylor said. "Put simply, the guidelines have become more about exclusion than inclusion."
The National Cancer Institute estimates that more than 266,000 new cases of invasive breast cancer were diagnosed in 2018 and that more than 40,000 patients died from the disease in 2018.
Using genetic testing to identify patients who are at increased risk of breast cancer enables patients to take steps to reduce this risk, including the use of chemoprevention drugs to lower risk, enhanced or additional screening and risk-reducing surgeries such as the type famously undergone by actress Angelina Jolie.
Beitsch said members of the American Society of Breast Surgeons "treat essentially ALL the breast cancer patients in the country." The new guidelines "will hopefully bring testing to most women with breast cancer (helping them decide on best treatments) and their relatives (potentially identifying patients at risk and prevent them from getting cancer)."
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