Genetic testing guidelines for breast cancer are outdated, study finds

Genetic testing guidelines for breast cancer are out-of-date and miss nearly half of patients diagnosed with the malignancy, doctors found in a new analysis of who gets tested and who doesn't.

Health insurance companies and government payers base how they reimburse patients for tests and procedures on existing medical guidelines. Genetic testing recommendations for breast cancer was established in 1999 by the National Comprehensive Cancer Network, a group of 28 cancer centers nationwide. The recommendations were updated in July, according to a cancer network spokeswoman.

The guidelines focus on two well-known breast cancer mutations — BRCA1 and BRCA2 — which were discovered in the 1990s. Since then, dozens of other genes related to breast cancer have been found. And when patients do not undergo appropriate genetic screening, they may not receive appropriate care for their form of the disease, doctors reported in the current issue of the Journal of Clinical Oncology.

Ten percent to 15 percent of about 250,000 women diagnosed annually in the United States with breast cancer have some type of genetic flaw, according to the American Cancer Society. A very small percentage of men develop breast cancer, usually stemming from a BRCA2 mutation.

Genomic science, however, is transforming what is known about the genetics of breast cancer, thus making current screening recommendations obsolete.

"The guidelines are very limited and need to be changed," said Hillary Rutter, executive director of the Adelphi Statewide Breast Cancer Hotline & Support Program in Garden City.

The recommendations are rooted in dated science at a time when dozens of other cancer-related genes not only have been found, but can be revealed in newer tests, Rutter said.

Long after the discovery of BRCA1 and BRCA2, scientists identified a dozen other key gene mutations related to breast cancer, as well as 25 or so genetic variants that are related to multiple forms of cancer, including breast cancer. As many as 80 cancer-related genes can be revealed in full-panel screening tests.

Although breast cancer specialists at major cancer centers in the region will order a full panel of genetic screening, Rutter said, there is a local shortage of genetic counselors. These professionals are needed to guide patients before screening and to fully explain results afterward.

"It's cruel to have someone tested and not have a counselor explain why testing is being done or what it means," Rutter said, noting that large cancer centers have counselors, but not all private-practice doctors who order screening do.

An additional problem on Long Island is a disparity in who is offered testing, Rutter said.

"We are finding in our work with underserved women that they don’t have the option to be tested, either because it is not presented to them or their insurance doesn’t cover it," Rutter said.

Costs for genetic screening have dropped substantially in recent years, from more than $3,000 for BRCA1 and BRCA2 screening to about $300 for the broader panel of tests.

Despite lower costs, the report in the Journal of Clinical Oncology found roughly half of all women with a breast cancer mutation are probably missed because of current screening guidelines.

Dr. Peter Beitsch, a breast cancer surgeon who practices in Texas, worked with a team of doctors to determine how many patients were not being screened. He and his colleagues recruited more than 900 women diagnosed with breast cancer into the project.

They found that 83 had a cancer-associated gene, but only 45 of them met the National Comprehensive Cancer Network's criteria for genetic screening. The other 38, who did not meet the network's criteria, also were found to have genetic mutations. Those patients would have been missed had the team hewed to the network's recommendations.

"The guidelines need to be changed so that everyone is well-informed on what the first course of treatment is for the patient," said Dr. Virginia Maurer, chief of the division of breast surgery and director of NYU Winthrop Hospital’s Breast Health Program.

"It's amazing how things have changed in my 42 years of practice," Maurer said. "Genomics are having an impact on the care plan. And that's what helps to ensure that the patient gets the right care from the get-go."

CLARIFICATION: A previous version of this story did not say the National Comprehensive Cancer Network guidelines had been updated in July.