Here’s Why All Women With Breast Cancer Should Get Genetic Testing

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Conducting multigene testing on breast cancer patients when they are diagnosed is cost effective and could potentially save the lives of thousands. Getty Images
  • A recent study suggests testing all breast cancer patients for the BRCA1, BRCA2 and PALB2 genes, regardless of family history.
  • These genes are linked to an increased risk of breast, ovarian, and a variety of other cancers.
  • Currently, most private insurance companies will not pay for genetic testing because they continue to adhere to existing NCCN guidelines.
  • Genetic tests are noninvasive and require a blood or saliva sample.

Conducting multigene testing on breast cancer patients when they are diagnosed is cost effective and could potentially save the lives of thousands, according to a new study.

But many patients are not offered the testing based on existing criteria, which means people carrying cancer genes are not given the opportunity to find out if they are carriers.

Multigene testing includes an evaluation for the BRCA1, BRCA2 and PALB2 genes. The genes have been linked to inherited cases of cancer. Mutations to the genes can put men and women at a higher risk of breast cancers as well as other cancers.

Currently, testing is restricted based on a patient’s family history or clinical criteria. The American Society of Breast Surgeons already recommends genetic testing for all patients. The National Comprehensive Cancer Network (NCCN) criteria does not.

Dr. Ranjit Manchanda, a lead researcher and professor at Queen Mary University of London, said that about 50 percent of BRCA carriers do not meet the existing criteria to qualify for genetic testing. As a result, about half of them are at risk but don’t know it. Additionally, only 20 to 30 percent of patients who meet the criteria are referred for and access BRCA testing, he added.

The study examining cost-effectiveness of testing was tested on U.S. and U.K models. The testing would be cost effective in between 98 and 99 percent of simulations in the U.K. health system and 64 to 68 percent in the U.S. health system. JAMA Oncology published the report, which included data from about 11,800 women in the United States, United Kingdom, and Australia.

“We feel that all breast cancer patients should be offered the option of multigene testing,” Manchanda told Healthline. “This approach will save many more lives and prevent many more breast and ovarian cancers than the current clinical approach. I do not see the benefit of testing being restricted.”

A study out earlier this year in the Journal of Clinical Oncology assessed data from 959 breast cancer patients and found that 49.95 percent met NCCN criteria. The authors recommended complete genetic testing.

Another study in the same publication published this year was based on data from more than 83,000 women on cancer registries in California and Georgia. About one-quarter of them with breast cancer and about one-third with ovarian cancer had genetic testing in 2013 and 2014.

Several organizations recommend genetic testing for ovarian cancer, but there are fewer that do for breast cancer patients, the authors reported.

Dr. Peter D. Beitsch, a surgical oncologist from Texas who was part of the first supporting study mentioned, told Healthline he agrees that breast cancer patients need genetic testing upon diagnosis. The new research is in line with his findings.

Testing involves a saliva or blood sample, which is easy either way, Beitsch said.

Generally, most patients can pay up front for testing, which costs about $250, Beitsch said.

“Insurance does not cover genetic testing for all breast cancer patients at the moment,” Beitsch noted. This is because they still follow NCCN guidelines, which have shown to be poor at determining mutation carriers.

Depending on the testing company, testing for cancer genes with expanded panels can cover anywhere from 30 to more than 80 genes. It can identify other organs that may be at risk for cancer, such as pancreatic cancer or melanoma. It can also pinpoint others in a family who may harbor mutations.

“They can then be watched more closely or even undergo prophylactic surgery to prevent them from getting a cancer,” Beitsch explained.

After unilateral breast cancer, mutation carriers can choose to have a mastectomy on the affected breast, or preventative mastectomy of the second breast to reduce their risk for cancer in that breast, Manchanda explained.

Additionally they can opt for a surgical ovarian cancer intervention. People who have the genes may also be eligible for novel drugs or other drug therapies through clinical trials.

“A major advantage of genetic testing is enabling testing relatives of breast cancer mutation carriers, to identify unaffected relatives carrying mutations who can benefit from early diagnosis and cancer prevention,” Manchanda said.

“Testing everyone instead of being restricted by family history will identify many more mutation carriers and their family members who can benefit from precision prevention. A large proportion of these cancers are preventable in known unaffected mutations carriers,” he added.

Some people don’t undergo testing because they don’t want to know if they have mutations, while others who do have testing may experience guilt if they don’t have the mutations that impact family members, Beitsch noted.

“The problem with genetic testing is not over testing, it is under testing,” Beitsch said. They’ve found less than 10 percent of people with BRCA1 and BRCA2 variants, and much less than that for the other 30+ genes linked to cancer.

“However with increased testing, we must provide education and tools for testing and interpretation to physicians to ensure management is optimized, lives are saved, and ‘genetic mismanagement’ is minimized,” he added.

With test costs declining and hopefully more people given the opportunity to undergo testing, more people can take preventative action to minimize their cancer risk through prevention or early diagnosis options, Manchanda said.



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