Overcoming barriers to genetic testing
There is still no screening test for ovarian cancer as there are for breast, prostate, colorectal and other cancers, though researchers have worked for decades to develop one.
Genetic testing, however, can be a useful tool for those concerned about inheriting this cancer. For those diagnosed with ovarian cancer, genetic testing can also help select the most effective therapies, in addition to helping people better understand their — and their family’s — risk.
As a gynecologic oncologist, Swisher has been treating ovarian cancer patients and conducting research on their behalf for 25 years. Her newly-funded project will focus on identifying and overcoming barriers to completing genetic testing in order to help people better understand their inherited risk for the disease — and potentially prevent it.
Not all ovarian cancers are driven by inherited or germline genetic mutations but mutations in two important DNA repair genes — BRCA1 and BRCA2 — have been identified in 13%-15% of those diagnosed with ovarian cancer. Mutations in these genes are also associated with fallopian tube cancer, primary peritoneal cancer, male breast cancer, prostate cancer, pancreatic cancer and early-onset breast cancer.
Genetic testing can identify the presence of mutations in these and other cancer susceptibility genes. Unfortunately, several large studies have shown that some people get partway through the genetic testing process, then, for whatever reason, they don’t complete it.
Swisher will dig in and discover the reasons behind these incomplete tests by interviewing people from a previous trial and analyzing their responses.
“By uncovering and addressing barriers to genetic testing, we aim to expand access to lifesaving genetic information and edge closer to preventing hereditary ovarian cancer,” she said. “Our improved understanding of genetic testing barriers will then be used to design supportive strategies to broaden access to cancer genetic testing and ultimately eliminate hereditary ovarian cancer.”
Testing positive for a germline mutation does not mean a cancer diagnosis is inevitable, she noted. Rather, it can give people a leg up on cancer prevention.
Some people with these mutations opt for preventive surgeries; Angelina Jolie, for instance, had a double mastectomy as well as an oophorectomy to remove her breasts and ovaries in order to successfully sidestep these cancers. Others take estrogen-blocking drugs, like tamoxifen, or do more frequent cancer screenings. Patient advocacy organizations like Facing Our Risk (also known as FORCE), offer resources to help people hash out their choices.
“Our best chance for decreasing mortality for ovarian cancer is prevention,” Swisher said in a related video. “Genetic testing allows us to document a small subset of women that have a very high risk of ovarian cancer. And those cancers can be entirely prevented if we identify their risk. Every woman that dies of hereditary ovarian cancer is a life unnecessarily lost. Making this testing more accessible is an opportunity to save lives.”
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