A Family’s History: Casey’s Journey With Hereditary Cancer Screening

For Casey, like for many new moms, having a child changed everything. In addition to the joy of becoming a parent for the first time, she struggled to get sleep and find time for self-care.

That’s probably why Casey hadn’t been paying attention to the mole on her neck—until it caught the attention of her OBGYN during a postpartum follow-up visit.

“During my pregnancy, the focus was always on the baby and making sure the baby was healthy and growing,” Casey said. “After my daughter was born, I wasn’t thinking about my body, I was just trying to survive as a new mom.”

Casey followed the advice of her OBGYN and made an appointment with her dermatologist. There she was diagnosed with invasive malignant melanoma, a condition with which she was all too familiar.

Casey’s mother died of complications from melanoma when Casey was just four years old. Casey remembers spending her childhood in long-sleeve swim shirts, slathered in sunscreen. It’s a practice she continued into adulthood in an effort to proactively manage her sun exposure.

Casey’s diagnosis came at the same age—almost to the day—as her mother’s.

“It was eerie,” Casey said, “like I was following in her footsteps.”

Pursuing Hereditary Cancer Screening

After Casey was diagnosed with melanoma, she began seeking treatment and had the tumor removed from her neck. And because she learned that people with melanoma can have a higher risk of other cancers¹, she started digging into her family’s genetic history.

Casey’s mother was adopted, and limited information was available from her father’s family. Both of her parents had passed away by the time Casey received her melanoma diagnosis. All of that made it difficult to get the information she needed about her family’s medical history. It didn’t take long for her to realize she would need to get connected to a hereditary cancer screening test, which screens for inherited genetic variants associated with an increased risk for cancer. Since Casey works for Natera, she was aware of the Empower test, which screens for the genes associated with more than a dozen types of cancer that can run in families.

But even once she had the test in hand, Casey still had an uphill journey. She was informed that she needed a doctors’ or nurses’ order to do the test, and there was a backlog of at least six months to be seen by a genetic counselor to be referred for the test.

“I was pretty devastated when I found that out,” Casey said. “Because of the potential risk for other cancers, I wanted this information.”

But Casey didn’t give up.

She made phone call after phone call. She reached out to friends, family members, and co-workers for suggestions. Finally, she was able to get on the schedule with a specialist who could review her oncology file to order the hereditary cancer screening testing.

“I’ve since learned that my OBGYN, or even my oncologist, could have ordered the test,” Casey said. “But I’m glad I didn’t just give up, and I hope other people don’t give up either. I’ve become an advocate for these tests and how they can help people because my test changed my life.”

In fact, a range of medical providers could have ordered Empower for Casey. This includes, for example, primary care providers, OBGYNs, and genetic counselors, as well as specialists, medical oncologists, and surgeons.

Casey’s hereditary cancer screening test indicated she also has an increased risk for pancreatic cancer. That test result allowed her to apply for a spot in a cancer care clinic where, if accepted, she could do the only kind of screening that could catch pancreatic cancer in its early stages.

“Pancreatic cancer is a scary one—most people are asymptomatic,” Casey said. “I wouldn’t be able to catch it with my routine oncology blood work. I didn’t have a family history of pancreatic cancer, so I wouldn’t have been eligible for screening through the cancer care clinic without this test. Now I’m not scared anymore, or wondering ‘what if’ or ‘why is this happening to me?’ I feel like I finally have an understanding of what my path looks like. It’s a transition to being proactive instead of reactive.”

Making Informed Decisions

Now, Casey feels comfortable she is doing everything she can to protect her health, and she is helping her family do the same. Because of Casey’s test results, hereditary cancer screening for her siblings is available at no additional charge through Natera’s family testing program. The family testing program provides complimentary testing for blood relatives of patients with a positive result. The order must be received within 90 days of the original report date.

“My siblings took it very hard with my melanoma diagnosis,” said Casey. “My brother and sister are in the process of getting tested now. My sister also has children, and we all understand the importance of getting tested for ourselves and our families.”

Casey also plans to do hereditary cancer screening for her daughter.

“This is a big test, and this is a hard thing to go through,” Casey said. “This information can be very, very hard to receive. But you don’t know what you don’t know. So without that information, how can you make informed decisions?”

Casey is also hoping that doctors and patients, especially OBGYNs and those who are pregnant, will start turning more to hereditary cancer testing.

“Particularly for those who tend to put themselves and their health on hold when they are caring for others, you have to prioritize yourselves again,” Casey said.

Getting started with Empower

Empower is available through a range of providers, including, for example, primary care providers, OBGYNs, genetic counselors, or through a specialist. If you are not sure if your provider offers Empower, you can text “Empower” to 636363 or call 650.489.5050. To learn more about Empower, visit www.natera.com/empower.

¹American Cancer Society. After Melanoma Skin Cancer Treatment. Accessed May 2022. https://www.cancer.org/content/dam/CRC/PDF/Public/8827.00.pdf