When BRCA Testing Falls Short

Featured Article, Ovarian Cancer, Women's Health
on September 3, 2013
When BRCA Testing Falls Short.
Kathleen Maxian (centers) receives an award from the Ovarian Cancer National Alliance. Photo Credit: Aaron Clamage.

An ovarian cancer diagnosis would be devastating to any woman. But Kathleen Maxian thought she was safe, after BRCA testing for genes linked to breast and ovarian cancer turned up negative. So she was particularly blindsided when, in August 2009, she was diagnosed with Stage 3 ovarian cancer and given a 20 percent  chance of living five years.

“When I heard ‘Stage 3,’ it felt as if the whole world stopped and I was going through life in slow motion. I felt like a drowning victim,” Kathleen, of Pendleton, N.Y., recalls. “I was terrified I was going to die.”

Now, four years, two recurrences and numerous rounds of chemotherapy later, Kathleen is still alive and fighting the deadly disease that claims most of its victims within a matter of years. But she’s not just fighting for her own life—she’s also battling to save the lives of countless women across the nation. A tireless advocate for ovarian cancer awareness and research, Kathleen has worked to strike down barriers in the medical system that prevent women from receiving the most comprehensive genetic testing available. And, just a few months ago, she had the triumph of watching her advocacy efforts come to fruition in a landmark Supreme Court case.

RELATED: Life After Ovarian Cancer 

It all started when Kathleen’s sister, Eileen, was diagnosed with breast cancer in 2007. Concerned about the possibility of an underlying hereditary component, Eileen underwent BRCA testing to screen for BRCA1 and BRCA2, the two gene mutations that are linked to a heightened risk for breast and ovarian cancer. Eileen’s test came back negative, indicating that her family members likely didn’t possess the harmful BRCA genes. “We all breathed a sigh of relief,” Kathleen says.

Bolstered by a false sense of security, Kathleen went about her normal life day to day life, thinking she was immune from BRCA genes. So she was stunned to get diagnosed with stage 3 ovarian cancer two years later. “It was surreal,” Kathleen says. “Cancer just wasn’t on my radar.”

Kathleen learned that the BRCA testing her sister had received was incomplete and had failed to catch some genetic glitches. “I knew that my cancer could have been prevented,” Kathleen says, adding that she would have had both of her ovaries removed had she known she was at risk. “But by that point it was too late.”

Until recently, Utah-based Myriad Genetics, Inc., claimed exclusive ownership to the BRCA1 and BRCA2 genes, giving the corporation a monopoly in the market for BRCA genetic testing.  Every year, thousands of women like Kathleen’s sister receive Myriad’s BRCA testing to rule out a family link for breast and ovarian cancers. But Myriad’s test isn’t entirely comprehensive: For an additional $700, patients can receive a newer, supplementary diagnostic test, called the BART test, which detects a genetic mutation in about 10 percent of women who test negative the first time. Because this secondary test costs an additional $700, however, it is typically only performed on women who have a significant family history of breast and ovarian cancer. In other words, women who opt not to pay for the additional BRCA testing run the risk of missing a genetic abnormality.

Learning about the shortcomings of genetic screening, Kathleen’s resentment quickly transformed into concern. “I realized that if this happened to me, it could happen to other women,” Kathleen says. “There are thousands of women just like me who are walking around with a false sense of security because Myriad didn’t finish the test.”

In January 2012, recognizing the need to drive greater awareness and funding for ovarian cancer, Kathleen teamed up with fellow ovarian cancer victim Candy Carberry to found the WNY Ovarian Cancer Project. “Our mission is simple,” Kathleen says. “It’s to educate the Western New York community on the symptoms and risks of ovarian cancer, as well as to provide support and information for women who have ovarian cancer.”

Compared to other cancers, ovarian cancer is grossly under-funded and under-researched. Because its symptoms are vague and mimic other conditions, ovarian cancer is notoriously difficult to diagnose. Moreover, there is no easily administered early detection test for ovarian cancer, spelling dire consequences for many women—when detected in its advanced stages, the prognosis for ovarian cancer is bleak. By sharing her story, Kathleen also hopes to educate women about the inadequacies of BRCA testing.

“Now I’ve got this extra weight of feeling like I’ve got to do something, that I need to get my story out, because there are other women this could happen to,” Kathleen adds.

This July, the issue of gene patenting and BRCA testing finally entered the public conscience as a result of a high-profile Supreme Court case. In Assn. for Molecular Pathology v. Myriad Genetics, the Supreme Court unanimously invalidated gene patenting, marking a major victory for the coalition of doctors, healthcare advocates and scientists who vehemently criticized gene patenting on the grounds that it barred innovation and discovery. The contentious Supreme Court decision followed on the heels of a long and divisive debate, in which Kathleen emerged as a key player. Kathleen’s personal story—which was picked up by CNN, The New York Times and other major news providers—presented a compelling case against gene patenting. The ban on gene patenting is expected to drive down costs, improve outcomes and make BRCA 1 and 2 testing more widely available to low-income women.

“It was a big triumph. I was very honored to be a part of the decision and to lend my story to the debate,” Kathleen says.

Although she rejoiced in the Supreme Court’s decision, Kathleen isn’t going to rest on her laurels. Because of her commitment to the ovarian cancer community, she was recently awarded The Cindy Melancon Spirit of Survivorship Award, presented by the Ovarian Cancer National Alliance. And in the coming months, she will continue to spread the word out about ovarian cancer.

“I feel like I need to use my time here in the most productive way that my talents will allow,” Kathleen says. “There’s a lot of work to be done, and that’s what motivates me to keep fighting.”