Genetic Testing Is Crucial For Decision Making
- The more information upfront the better for women as it relates to genetic and molecular testing for ovarian cancer
- Differences in germline genetic mutations (inherited) versus somatic mutations (which occur during the course of your life) should be noted as these may help predict response to medication
- Depending on your institution, testing availability may vary, as more cancer centers are developing HRD tests that are under evaluation for approval
These are tough questions and should be considered with care, so we spoke to Dr. Michael Birrer, Senior Scientist of the O’Neal Comprehensive Cancer Center at UAB, for his advice on making these calls.
Why is Testing Important?
Read MoreStatistics on BRCA mutations in newly diagnosed women
Birrer says that research has confirmed that 20 percent of women with ovarian cancer typically have a BRCA mutation, which is higher than previously reported statistics. “It used to be the dogma that about 8 percent of patients with ovarian cancer had a family history, and those were the patients who had some sort of genetic basis–we now know that’s not true,” he says. “It’s more likely about 20 percent of ovarian cancer who come in the door of the clinic who have a germline abnormality in [BRCA].” Out of these 20 percent, nearly three-fourths of women don’t realize that they have a BRCA mutation, says Birrer, which can have terrible consequences for the next generation.“They don’t know that they have genetic abnormalities,” he says. “We would never really [counsel them] and they would pass that gene onto their kids with dire consequences.”
These BRCA mutations significantly increase the likelihood of developing ovarian cancer, so these statistics underscore the necessity for women diagnosed with ovarian cancer to undergo genetic testing, says Dr. Birrer. “Every single woman with ovarian who walks through the door should get genetic testing.”
Two big takeaways
According to Birrer, the two major takeaways for women with ovarian cancer to take to their doctors are:
- “To remind their doctors that they need to have sequencing done.” Only about 40 percent of women with ovarian cancer treatment get genetic testing done, says Dr. Birrer. “Doesn’t matter their age, doesn’t if they’re young or old…doesn’t matter. Every patient should get sequencing,” says Birrer.
- “Every woman should be offered maintenance therapy.” Only 30 percent of women with ovarian cancer get maintenance treatment, whether that is bevacizumab or PARP inhibitors. While there are some side effects and complications that all patients should consider before enrolling in maintenance therapy, this is still far too low of a number.
Both of these guidelines are very recent paradigm shifts in ovarian cancer treatment, and women should ensure that they are proactive about following these two takeaways. As Dr. Birrer puts it, “Insist.”
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