BRCA-related choices depend on quality genetic tests, counseling

May 24, 2013 | by

Angelina Jolie’s decision to have prophylactic mastectomies has fueled much discussion over the plight of women who learn they have genetic mutations linked to breast and ovarian cancer. But sometimes, as a recent story points out, the decision is based on faulty information.

Before a woman can confidently make a decision about whether to undergo prophylactic mastectomies, she must be confident in her genetic tests. A mammogram, shown here, is far from enough.

Before a woman can confidently make a decision about whether to undergo prophylactic mastectomies, she must be confident in her genetic tests. A mammogram, shown here, is far from enough.

The mutations in question, in the BRCA1 or BRCA2 gene, dramatically increase a woman’s chance of developing the cancers, and testing positive  for them immediately presents women with a dilemma. They can choose more frequent screenings and hope that mammograms pick up any breast tumors at an early stage, or they can undergo prophylactic mastectomies and an oophorectomy – that is, they can have their breasts and ovaries removed.

The choice is immensely personal, affected by a woman’s age and whether she plans to have any, or additional, children. But the decision must be made with accurate information.

Sometimes, apparently, it isn’t.

The Huffington Post told the story this week of a woman whose genetic test for breast cancer risk was misinterpreted. She had already had one mastectomy in the wake of a breast cancer diagnosis and decided to have a genetic test for the BRCA mutations. The tests came back positive.

Alarmed, she sought a second opinion at City of Hope. Jeffrey Weitzel, M.D., director of the Division of Clinical Cancer Genetics at City of Hope, tried to reassure the woman, who had initially been tested elsewhere.

"Her genes did show some irregularities, but the test couldn't say for sure if they were harmful. More genetic testing and counseling should have been done before treatment options were offered," Weitzel told the reporter.  A world-renowned expert in genetics, Weitzel ordered a more complete type of breast cancer test. This one found no mutations.

Weitzel advised against the mastectomy – but to no avail. The woman, by her own admission, had “panicked.”

The story, originally printed in O-The Oprah magazine, goes on to tell of another woman who also received a false report of a genetic mutation. What both stories highlight is the need for accurate information.

Jolie’s decision has thus far called attention to the tough choices faced by BRCA carriers, and the need for more research into the disease. It should also call attention to the need for better genetic counseling.

“There has been an amazing surge of queries about this,” Kathleen Blazer, a genetic counselor at City of Hope told USA Today.

Weitzel and Blazer work to make sure those queries have good answers. The Cancer Genetics Education Program at City of Hope trains doctors, nurses and genetic counselors worldwide in understanding the genetic roots that contribute to cancer risk, enabling personalized therapies as well as medical and lifestyle changes that can mitigate those risks.

Through a grant from the National Cancer Institute, their program provides training to community hospitals around the world to establish genetic counseling programs. To date, more than 400 clinicians from 47 states and 13 countries have completed the training program – and returned to better counsel and guide their patients.

After all, genetic profiling may indicate a patient’s disease risk – if interpreted correctly – but counseling enables patients to make educated decisions. And, like Jolie, all women need to be confident in their genetic tests, and the interpretation of them, in order to be confident in their decisions.