The current guidelines for genetic testing of breast cancer patients limit the number of women who can get tested. Because of these restrictions, these tests miss as many patients with hereditary cancers as they find, according to a study published Monday in the Journal of Clinical Oncology.
“Unfortunately, insurance companies pay attention to these guidelines,” said Dr. Peter Beitsch, co-author of the study and a cancer surgeon practicing in Texas. Insurance companies and other payers reimburse genetic testing — or not — based on the guidelines.
The result: Patients without genetic test results might not receive the appropriate treatment for their cancer, which could be a matter of life or death.
Approximately 330,000 patients are diagnosed with breast cancer every year in the United States, and of these cases, an estimated 10% are probably due to hereditary causes, according to Beitsch.
Guidelines out of date
The guidelines for the genetic testing of breast cancer patients were first established about 20 years ago by the National Comprehensive Cancer Network, a nonprofit alliance of 28 cancer centers dedicated to improving patient care, explained Beitsch, who is a co-founder of the TME Breast Care Network, a nonprofit focused exclusively on advancing treatment for breast cancer patients.
“Back then we tested for two genes, BRCA1 and BRCA 2,” Beitsch said. BRCA 1 and BRCA 2 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 explained. The guidelines, then, “originated really as an economic roadblock to try to decrease the overall cost of health care in America,” he said.
Since then, it has 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.