Most Breast Cancer Patients Who Qualify for Genetic Testing Do Not Receive It

Most Breast Cancer Patients Who Qualify for Genetic Testing Do Not Receive It

Take-Home Message:

Genetic counseling and genetic testing have been offered to only a minority of the breast and ovarian cancer patients who qualify for them.


National Estimates of Genetic Testing in Women With a History of Breast or Ovarian Cancer

Authors: Childers, C.P. et. al.

Source: JCO 201;35:3800-3810

Approximately 10% of breast and 15% of ovarian cancers in the United States are caused by genetic mutations (most commonly BRCA1 and BRCA2 mutations). Current estimates of testing among newly diagnosed patients are about 53%. However, the number of women diagnosed with breast or ovarian cancer each year is less than the number of women who are living with past histories of the diseases. It is expected that those women were less likely to receive genetic testing due to lack of awareness or unavailability. Therefore, the majority of US women who have had breast or ovarian cancer and qualified for genetic testing have not received it. The investigators looked into the rates of genetic testing among women with breast or ovarian cancer.

The National Health Interview Survey is distributed to participants on an annual basis.  Every five years, this Survey is supplemented with a module about cancer. Additionally, respondents are asked about genetic counseling and testing. Only the female participants were evaluated for the current study. Each respondent’s history was assessed to see if she met criteria for genetic counseling and testing (according to the National Comprehensive Cancer Network guidelines). Over 92,000 women provided information. 

Only 20% of women with breast cancer histories who met criteria for genetic testing were advised to get tested. Only 15.3% of women who met criteria actually got tested. Rates were lower for ovarian cancer: only 13% of women who qualified for testing were advised to do so, and only 10% of patients actually got tested. The investigators estimated that 1.2 to 1.3 million US women with histories of breast and ovarian cancer qualify for genetic testing but have not been tested.

There are strong recommendations about surveillance, risk reduction and family counseling for patients with genetic mutations. These recommendations promote health for the women tested and for their families. These current results suggest that there is a missed opportunity to promote better health and possibly improve survival for these women and their families. This could be addressed by evaluating both patient and provider awareness, as well as by ensuring access to proper counseling and testing resources.