New Toolkit Can Help Debunk Myths About Genetic Testing for Gynecologic Cancer

Working with several medical and patient advocacy groups, the Society for Gynecologic Oncology (SGO) has released a toolkit of case studies and resources on genetic testing for healthcare providers, patients and their families. Through case studies of common hereditary syndromes in oncology — such as BRCA mutations and Lynch syndrome – this toolkit aims to increase awareness among patients, their providers and caregivers of important matters in this rapidly advancing field.

For gynecologic oncologists, the growth of cancer genetics is especially relevant, as two of the most common cancers in that field, ovarian and uterine, are directly affected by hereditary syndromes. While there has not been much progress toward a cure for ovarian cancer, identifying patients with predispositions can lead to prevention of the cancer altogether.

With the Affordable Care Act emphasizing prevention, genetic testing is receiving more and more widespread insurance coverage, clearing up many of the financial reasons that had earlier prevented patients from getting genetic testing and counseling.

SGO worked with the American College of Obstetricians and Gynecologists, the National Society of Genetic Counselors, Bright Pink and Facing Our Risk of Cancer Empowered (FORCE) to produce the toolkit which covers mutations related to ovarian and breast cancer, the aftercare of a salpingo-oophorectomy, and Lynch syndrome, which poses an increased risk for endometrial and colon cancer. Each case highlights the key points of the topic at hand and provides National Comprehensive Cancer Network guidelines, all working to undo common misconceptions.

Kristin Zorn, M.D., director of the Division of Gynecologic Oncology in the University of Arkansas for Medical Sciences College of Medicine and an SGO expert, spoke with CURE about this toolkit and the importance of genetic counseling and testing. The counseling, Zorn said, is a critical part of the process, as the results of testing have many implications. It is not just the patient tested who is affected, but also that patient’s family. Results can also influence how major life decisions are made, from family planning to insurance.

Zorn also pointed out that genetic counseling and testing should be a process, “rather than a one-time event.” Once connected to a genetics professional, patients and their families should check in annually. Zorn explained that this is important to keep the genetic counselor up to date on the family’s cancer history and to learn about any potential advances in testing or management.

Common misconceptions in cancer genetics can keep patients from getting tested and lead to missed opportunities for preventing cancer. Zorn offered what she considered the most common misconception: “if cancer doesn’t run in your family, there’s no way there could be a genetic mutation.” Studies have shown that mutations and syndromes can show up in patients with no family history of cancer. “There are some families that follow the traditional model of lots of cancers in the family, happening at early ages…but there are plenty of families that don’t follow that paradigm.”

Zorn also cited patients being “very fatalistic about cancer risk” as a barrier to genetic testing: “Some question, what’s the point of getting tested to show that I’m at increased risk for cancer, because there’s nothing I can do about it.”

However, Zorn emphasized that genetic counseling and testing presents the “chance to be proactive about cancer risks…and to take preventive action.” Knowing that someone has a genetic mutation that puts them at a higher risk for certain cancers allows for screening to locate that potential cancer at an earlier stage, to start taking a medication to decrease risk, or even undergo preventive surgeries to remove organs, if the risk is high enough.

“There’s a lot we can do to help patients and their families manage that risk,” Zorn said, “so they hopefully never have to get a cancer diagnosis. Or, if they do have cancer, find it early enough that it can be cured, rather than have it be a death sentence for them.”

The addition of advocacy groups to assist in the development of this toolkit was a conscious decision, Zorn said. “We really want to have all the perspectives reflected. We’re incorporating the full spectrum.”

She stressed the difference of treating a patient who already has cancer versus a “previvor”— an individual who has a mutation but hasn’t yet developed cancer.

“If you’ve already got ovarian cancer, you’re willing to tolerate a fair amount of toxicity in order to have your cancer go into remission.” A patient at risk for cancer but who does not have a diagnosis yet has different considerations, she added, and “a very different tolerance level for toxicity.”

Zorn encourages people with concerns about cancer risk for themselves or a family member to tap the vast array of resources that are out there, “to get that knowledge and get through the process.”

There is no reason, Zorn said, to just give up because a genetics professional isn’t immediately available. The toolkit itself is a resource that can be useful to anyone, no matter what perspective they are coming from. It can serve as a starting point, providing further resources as well.

Genetic counseling and testing, Zorn said, “can be the most important thing that you ever do for your own health and for the healthcare of the rest of your family.”

To view the SGO Genetics toolkit, click here.