Genetic Testing Provides Answers: Chloe’s Story

Much of who we are begins with something we cannot see: our genes. Passed down through families, genes act like a set of instructions that help shape how our bodies grow and respond to the world.

This inheritance connects us with our families in a unique way. Some traits we inherit are easy to see. Families often share the same eye color and height. Many have the same smile.

But we cannot see all the traits we inherit. In some families, a higher risk of developing certain cancers is also passed down. This is called a genetic or inherited cancer risk.

For families with inherited cancer risk, genetic testing can help guide care, screening, and life decisions. 

Meet Chloe

Chloe was 14 when she arrived at St. Jude Children’s Research Hospital. She had just received her first cancer diagnosis: acute lymphoblastic leukemia (ALL).

“My sister, Summar, passed away from a brain tumor before I was born,” Chloe says. “She was 3. So, when I came to St. Jude, they were like, ‘OK. Something's probably genetically going on.’"

Through genetic testing, a genetic counselor in the Cancer Predisposition Program discovered that Chloe has Li-Fraumeni syndrome, a rare genetic disorder that makes her likely to develop certain types of cancer.

“There's not a lot of cancer in my family,” she says. “My dad is the one who passed it along to me. Finding out that we have such a huge genetic predisposition was kind of a shocker.”

The 23-year-old has since had 2 melanomas and myxoid pleomorphic liposarcoma, a cancer linked to Li-Fraumeni syndrome.

Last year, Chloe chose to have both her breasts removed to lower her risk of breast cancer.

Today, she is grateful for her genetic test results.

“If I had gone without knowing my genetics and the fact that I'm so predisposed to cancer, then I wouldn't know how to treat myself,” Chloe says.

The role of a genetic counselor

Genetic counselors like Rose McGee help guide patients and families through the process.

“We have conversations about what genetic testing is,” McGee says. “But we also talk about the implications or possibilities of what we could learn. Then we provide decision-making support that aligns with that patient’s or family’s wishes and values about learning genetic information.”

Genetic testing does not prevent cancer, but it does provide answers.

For Chloe, knowing her risk has helped her take steps to protect her health and stay active. She keeps track of appointments that help her monitor her health. She leans on her support system, including her friend, Jaron; her boyfriend, Douglas; and her mom. And she makes time for the things she enjoys, like drawing and video games.

If you are concerned about your family history, talk to your care team. Ask if genetic testing may be right for you or your child. It may help you better understand your risk and plan for the future.