December 11, 2018
Editor's note: The following story has been updated to clarify that NCCN guidelines for the Genetic/Familial High-Risk Assessment: Breast and Ovarian have been updated at least once every year since they were first launched in 1999, according to an NCCN spokeswoman.
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An estimated 10 percent of breast and ovarian cancers result from hereditary causes. That said, current guidelines for genetic testing of breast cancer patients limit the number of women who can get tested. Reportedly, this is resulting in an under-diagnosis of hereditary breast cancer, according to a study published in the Journal of Oncology on Monday.
"Unfortunately, insurance companies pay attention to these guidelines," Dr. Peter Beitsch, co-author of the study and a cancer surgeon practicing in Texas, told CNN. Insurance companies and other payers reimburse genetic testing, or not, based on the guidelines. Because of this, patients without genetic testing, and it's an issue of life and death.
According to the research, the guidelines for genetic testing in breast cancer patients were established 20 years ago by the National Comprehensive Cancer Network (NCCN), a Plymouth Meeting-based nonprofit alliance of 28 cancer centers dedicated to improving patient care. At that time, genetic testing was both difficult and expensive.
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But a spokeswoman for NCCN said Beitsch's comments were misinterpreted by the media:
"The NCCN Guidelines for Genetic/Familial High-Risk Assessment: Breast and Ovarian have been updated at least once every year since they were first launched in 1999. In fact, the NCCN Guidelines are the most-frequently updated medical guidelines in any discipline. The current version ... was last updated in July of 2018. The article referring to the NCCN Guidelines was based on a study of an earlier version that was published in 2017."
Beitsch said that in 1999 doctors tested only for BRCA 1 and BRCA 2, tumor suppressor genes found in everyone. A defect or mutation in one or both of those genes increases the likelihood of breast cancer, according to the CNN report:
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."
Despite their evolution, the guidelines became increasingly difficult to work with, if not unusable researchers claim — and that’s what sparked this study.
Researchers examined about one thousand female breast cancer patients, half who met the criteria sanctioned by the NCCN, the other half who did not. Among the 959 participants, all underwent a full panel of DNA testing for hereditary breast cancer.
The results showed that 83 women, or 8.65 percent of the total participants, had breast cancer-linked genetic defects. Of these women, 45 met the National Comprehensive Cancer Network's criteria for testing, while 38 women did not. Ordinarily, these 38 women would not have been tested.
For the women in this study, and worldwide, who do not meet the genetic testing guidelines, their treatment and potentially their survival – as well as for her relatives – are on the line.