Should you consider genetic testing?

Mary is a nurse at Advocate Christ Medical Center in Oak Lawn, Ill. When it came time for her annual mammogram in June, she was busy studying for her master’s degree.

Her time consumed with both work and school, Mary contemplated skipping her screening as she felt fine and routinely checked for lumps.

Luckily, she went in for her mammogram. She was diagnosed with breast cancer.

Mary has a family history of breast, ovarian and other cancers. With two boys and granddaughters, she decided to take her health more seriously and met with Christ Medical Center genetics counselor, Cristina Ruiz, to set up a genetic test.

Through this test, she discovered she has a CHEK2 gene mutation. Mutations in the CHEK2 gene are linked to a range of cancers, such as colon and breast cancer. Because Mary’s chance of cancer reccurrence is higher, she should frequently be screened for colon cancer through colonoscopies.

Additionally, her children have a 50 percent chance of having inherited her CHEK2 mutation, and with it, increased cancer risk.

Mary says the test made her and her family more aware of their health, and she is confident the test may help them to catch cancer early. “I would recommend people consider genetic counseling,” she says. “It’s better to know you might have cancer one day than to wait and end up accidentally ignoring the signs.”

The American Cancer Society says more than 600,000 people will die from cancer in the U.S. in 2018. Genetic testing could help reduce this number significantly in the future.

Ruiz says these are some of the benefits of genetic counseling and testing:

• Identifying one of the causes of cancer
• Finding family members who may be at risk of inheriting cancer
• Finding whether family members are not at high risk for certain cancers
• Helping to develop a cancer screening schedule to catch cancer early
• Aiding in decision-making about risk-reducing preventive surgery

Marina Tiberi is a Christ Medical Center breast cancer patient who has also undergone a genetic test not just once, but twice.

With no suspected history of breast cancer in her family, Tiberi was shocked when she was diagnosed with breast cancer at the age of 46. Soon after, in 2011, she decided to take a genetic test for both the BRCA1 and BRCA2 gene with the hope of determining where her breast cancer came from.

She tested negative and was left wondering. According to Ruiz, the BRCA1/2 genes are thought to account for approximately half of hereditary breast cancer.

Recently, other genes have been identified to be associated with hereditary cancers.

For this reason, Tiberi decided to have an updated genetic test. This time, she tested positive for mutations in the CHEK2 gene and at last had an answer as to where her cancer came from.

As it turns out, Tiberi’s test ended up revealing something even more surprising – not one, but two CHEK2 mutations, which is extremely rare. This means both Tiberi’s mother and father passed down an altered gene.

This means her children will each have inherited one copy of the CHEK2 mutations. As a result, they should begin screening for breast and colon cancer at young ages.

“I’m glad to have found out where my cancer came from and the preventative measures that can help keep my kids and myself healthy,” says Tiberi. “I will say that while some people’s insurance may cover genetic testing, it can be expensive for those who have no history. Plus, you may want to consider the cost of the additional preventative tests you might find yourself having to take, depending on your results.”

According to the U.S. National Library of Medicine, genetic testing can cost anywhere from $100 to more than $4,000, depending on the complexity of the test. However, in most cases, genetic testing is covered by insurance.

“I think it’s important to realize that science is always advancing,” says Tiberi. “The CHEK2 gene hadn’t even been found when I had my first genetic test. Imagine how many genes might be found by the time my kids decide to get tested.”

Click here to find out more about Advocate Christ Medical Center’s genetic testing program.