Genetic Breast Cancer Testing Guidelines May Lead To Missed Cases

A new study says current guidelines for genetic breast cancer testing might miss almost as many potential cases as they identify.
Posted at 4:49 PM, Dec 12, 2018

A new study claims genetic breast cancer testing guidelines are restricting how many women can get tested, possibly resulting in missed cases.

Researchers wanted to gauge how well National Comprehensive Cancer Network guidelines worked in identifying genetic breast cancer cases. 

They put about 1,000 female breast cancer patients under a full panel of DNA testing. Half of them met the guidelines' testing criteria.

The results showed around 9 percent had genetic traits linked to breast cancer. Of that group, 45 women met the testing criteria, and 38 didn't.

Researchers say in a real-life setting those 38 typically wouldn't have been tested and that that suggests the current screenings could exclude close to half of patients who may carry a cancer-linked gene.

Though the guidelines are updated regularly, experts point out that they were established about 20 years ago when testing was expensive and only the BRCA genes were tested for. Now, scientists have discovered multiple gene mutations connected to breast cancer, and testing is less costly.

The study's authors say their main recommendation is for all breast cancer patients to receive genetic testing. 

Around 330,000 people are diagnosed with breast cancer each year in the U.S. An estimated 5-10 percent of those cases are hereditary

Additional reporting from Newsy affiliate CNN.

Editor's Note: We've edited this story to clarify that NCCN guidelines undergo regular updates.