Author: Susan Scutti / Source: CNN
(CNN)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 likely due to hereditary causes, according to Beitsch.
The 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, 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,” said Beitsch. 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, said Beitsch.
Meanwhile, genetic testing “radically changed. It went from a difficult-to-do, and expensive, test to a quite inexpensive test,” said Beitsch. “The cost dropped from, say, $5,000 for two genes to now we’re doing 80 genes for about $250.”
So Beitsch and his colleagues set up a study to look at nearly a thousand female breast cancer patients, half who met the criteria set forth in the National Comprehensive Cancer Network guidelines, the other half who did not. Among 959 study participants, all underwent a full panel of DNA testing for hereditary breast cancer.
The results showed that 83 women or 8.65% of the total participants, had breast cancer-linked genetic defects. Of these, 45 women met the National Comprehensive Cancer Network’s criteria for testing, while 38 women did not. Ordinarily, then, these 38 women would not have been…
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