A new study finds that genetic testing and counseling lead to interventions that can find breast and ovarian cancers at earlier stages.

Up until now, it's been unclear whether it paid to know about your hereditary risk of breast and ovarian cancer. But a new study says that knowing is half the battle.

The research, published in the Journal of Clinical Oncology, found that women who were tested for mutations in either of two known breast cancer genes, BRCA1 and BRCA2, ultimately received more cancer surveillance and preventative surgeries, which in turn led to detection of earlier stage breast and ovarian cancers.

Researchers from Memorial Sloan-Kettering Cancer Center in New York identified 251 individuals with mutations in BRCA1 or BRCA2, which are associated with a greatly increased risk of developing ovarian cancer and early onset breast cancer.

Patients were counseled about having prophylactic surgery (removal of the breasts or ovaries) or increased surveillance through screening such as mammography, clinical breast exam or pelvic ultrasound.

Overall, knowing one's risk and participating in either intervention resulted in the detection of cancers in earlier stages compared to women who discovered their BRCA status after a breast cancer diagnosis, the researchers found.

"The results provide the first prospective evidence that BRCA testing can lead to intervention that results in a diagnosis of early-stage breast and ovarian cancers," says Lauren Scheuer, senior genetic counselor at Memorial Sloan-Kettering and lead author.

Identifying High Risk Groups

While the two-year follow-up for this study was too short to make any predictions about survival, it is believed that identifying cancers at their earliest stages could translate into longer life.

Some experts are encouraged by these results because they feel high-risk individuals are not identified often enough.

"It is heartbreaking to take care of a woman in her 40s who has had significant family history that wasn't identified, who could have had [an intervention] and would not be dying of disease now," says Dr. Joanna Cain, chairwoman of the department of obstetrics and gynecology and director of the Center for Women's Health at Oregon Health and Science University in Portland.

One possible reason for the lack of testing is the fact that, prior to this study, the benefit was unclear. Additionally, many insurers will not pay for testing, which costs as much as $2,400 for families with unknown risks.

And for those patients who have coverage, many are concerned that if they opt for testing, insurers will later discriminate against them if they are found to be at increased risk. However, experts say this fear has not yet come to pass.

"We have not encountered a single case of insurance discrimination from any of these patients who have undergone genetic testing," says Scheuer, referring to the more than 300 cases she has personally witnessed.

Surgery or Surveillance

Some women may also be wary of testing, experts say, because they fear that surgery is the only option for a positive result.

"People would say, 'Even if I've got the gene I don't want to have a mastectomy, so what's the point of knowing?'" explains Dr. Gerard Doherty, professor of surgery at Washington University in St. Louis.

However, the current study demonstrates that even for those women who did not elect to have surgery, the non-surgical approach was still effective at catching most cancers — although not all. Two cancers were detected during surgery that were not detected otherwise.

Experts say that these cancers may have been missed because these women needed to be screened more often, something that the study didn't address.

"While we did diagnose several early-stage cancers with mammography and breast imaging, we didn't identify them all," adds Scheuer. "We need more research into whether more frequent breast imaging might be warranted in women at hereditary risk."

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