Many Women at High Risk of Genetic Mutation Don’t Get Testing

A study has found that after being diagnosed with breast cancer, most women want genetic testing but don’t get it, and only about half of women at high risk of a genetic mutation are tested. The study was published as a Research Letter in the Feb. 7, 2017 issue of the journal JAMA.

Most inherited cases of breast cancer are associated with one of two abnormal genes: BRCA1 (Breast Cancer gene one) or BRCA2 (Breast Cancer gene two).

Women with an abnormal BRCA1 or BRCA2 gene:

  • have up to an 85% lifetime risk of developing breast cancer
  • have a much higher-than-average lifetime risk of ovarian cancer; estimates range from 15% to 60%

U.S. guidelines say that BRCA testing should be considered when:

  • many women in a family have been diagnosed with breast and/or ovarian cancer, particularly if the women were younger than 50 when diagnosed
  • some women in a family have been diagnosed with cancer in both breasts
  • there is both breast and ovarian cancer in a family
  • men in a family have been diagnosed with breast cancer
  • there is breast cancer in a family and either male relatives on the same side of the family have been diagnosed with prostate cancer at a young age or relatives on the same side of the family have been diagnosed with gastrointestinal cancers, such as pancreas, gall bladder, or stomach cancer
  • a family is of Ashkenazi (Eastern European) Jewish descent

To do the study the researchers sent a survey on genetic testing to 2,529 women who had been diagnosed with stage 0 to stage II breast cancer between July 2013 and September 2014. The women were between 20 and 79 years old and lived in Georgia and Los Angeles, Calif.

The survey found that 66% of the women said they wanted genetic testing, but only 29% actually had genetic testing. In addition, only 60% of high-risk women who had genetic testing met with a genetic counselor.

The most common reasons high-risk women gave for not having genetic testing were:

  • my doctor didn’t recommend it (56.1%)
  • too expensive (13.7%)
  • didn’t want it (10.7%)
  • my family didn’t want me to have it (0.2%)

“We found that genetic counseling and testing are not well-matched to medical need,” said Allison Kurian, M.D., associate professor of medicine and of health research and policy at Stanford, who is the study’s lead author. “Women are very interested in genetic testing but many fail to receive it. This is particularly worrisome because it means that doctors are missing the opportunity to prevent cancers in mutation carriers and their family members.”

“Genetic testing results can affect what sort of surgery a woman may choose to treat her existing breast cancer, as well as what treatments she should pursue to reduce the risk of forming new cancers in the future,” said Reshma Jagsi, M.D., professor and deputy chair of radiation oncology at the University of Michigan and one of the study’s senior authors. “We don’t have a crystal ball, but genetic testing can be a powerful tool for certain women. It is worrisome to see so many of those women at highest risk for mutations failing even to have a visit focused on genetic counseling.”

Bottom line: Many high-risk women who should have genetic testing aren’t having the screening done. Women with a genetic mutation linked to breast cancer have a number of options to reduce breast cancer risk and the risk of breast cancer recurrence.

About the author: Raja P. Reddy, MD is a board certified diagnostic radiologist specializing in breast imaging. He is also a contributing editor for Women’s Imaging Specialists, a leading provider of outpatient women’s imaging services in the greater Atlanta, GA area.