Crystal Ellwood’s father had both skin cancer and pancreatic cancer.

In 2021, he tested positive for a mutation in the BRCA2 gene, which increases a person’s risk for cancers including breast, ovarian, pancreatic, a form of skin cancer called melanoma, and others.

Crystal had a 50% chance of inheriting the mutation.

She recently decided to participate in The Gene Health Project at WellSpan, a community health research project that offers no-cost genetic screening for the BRCA2 mutation as well as screenings for an inherited form of colorectal cancer, and for a genetic disorder characterized by very high cholesterol levels that can lead to heart disease.

Participating in the Gene Health Project would either confirm either that Crystal carries the BRCA2 mutation or take away some of the worry. Crystal, who has two daughters, wanted to know.

She tested positive in the spring. Though the news was sobering, she felt empowered as WellSpan’s team stepped up to help her navigate the test results and figure out what to do next.

“It’s opening doors for me,” she says. “It gives you information that now you have something, what are you going to do about it? I want to live a long time so I can watch my children grow up.”

After her positive result, Crystal met with a WellSpan genetic counselor, Tatiana Chichilla, who explained what the results meant for Crystal in terms of risk and in terms of possible intervention, such as surgery and even chemotherapy.

“Knowledge is power. The goal is for patients to be educated so they can make the best decisions about testing and treatment,” Tatiana says. “We know that early detection of breast cancer is a key to survival and to a healthy life.”

Crystal has five times the average risk for breast cancer, with an additional increased risk of ovarian and pancreatic cancers, which are generally rare.

After meeting with Tatiana, Crystal, a nurse at WellSpan York Hospital, set up an appointment with a WellSpan oncologist.

To address her increased risk of breast cancer, she will undergo yearly mammograms and MRIs, noting that she is reassured by the fact that the evaluation of mammograms at WellSpan is enhanced by artificial intelligence, which helps radiologists to quickly and accurately analyze the images to detect breast cancer.

She also is going to be monitored for pancreatic cancer through fasting blood sugar tests (elevated levels are associated with an increased risk for this cancer).

She decided to have a full hysterectomy, which will reduce her chance of ovarian cancer by 80%.

“Undertaking surgery is a very personal decision every woman has to make with her care team and her family,” Tatiana says.

None of these choices are easy but Crystal has her eye on the future.

“I’m 42 and we have two beautiful children,” Crystal says. “I try to do all the prevention stuff and if you can help keep it from even happening, you will lower your chances.

“I’m ready to go. Let’s get this done.”

WellSpan hopes to improve the health of people in our region through the Gene Health Project, which improves access to personalized health care and also supports new research discoveries for the general population.

WellSpan is joining with other health care systems from across the country partnering in the research project with a company called Helix, a leading population genomics company. To date, more than 25,000 people age 18 and older have participated in the Gene Health Project at WellSpan, which has a goal of enrolling 100,000. About 1% to 2% of those who participate will have a genetic variant that may put them at risk for one of the conditions.

Like Crystal, those who find out they have an increased risk will have the chance to have a no-cost appointment with a genetic counselor to discuss their results. Patients also will be connected with a clinician to further discuss their care if that is their desire.

For Crystal, the testing was just the first step of many decisions she and her family will face. Crystal knows her daughters may also have their own decisions to make down the road about their own genetic testing, which is generally not recommended for those under the age of 18. She is eager to see where the science will go with regard to genetic research and how it may evolve, with the participation of patients like her in large research projects.

“If my information can help others, then I am all about that,” she says. “It’s amazing what a little bit of blood can do.”