Keri Christian

Working with genetic counselor Katherine Hunt put Keri Christian (right) in a powerful position to make decisions that could save her family.

Keri Christian can't help getting a little teary-eyed as she rocks her new grandson to sleep, imagining him growing up to be a strong, healthy man. After all, just a short while ago Keri was quite uncertain what her family's future would hold.

In 1995, Keri was diagnosed with advanced breast cancer. The disease was treated successfully, but "I was really scared it was going to come back," she says. And because Keri's mother had also battled breast cancer, "it now seemed that cancer could be hereditary in our family," Keri explains. Suddenly the future health of her three children and four grandchildren was in question.

While working as a volunteer with the American Cancer Society, Keri learned about the Genetic Counseling Program at Mayo Clinic in Scottsdale, Ariz., which could help determine whether the breast cancer she'd fought for almost a decade was hereditary. "Can you imagine?" Keri says. "A program that tells the chance of you and your family getting cancer; I had to do it."

Unraveling the Past

Genetic counseling educates patients and their families about the risk of passing on an inherited predisposition for certain medical disorders, or the risk of having a certain disorder themselves. These hereditary disorders may include diabetes, Alzheimer's disease, Huntington's disease, sickle cell disease, cystic fibrosis, or as in Keri's case, various types of cancer. At Mayo Clinic, genetic counselors work as members of a patient's healthcare team, providing information and support to families who have members with birth defects or genetic disorders, as well as to families who are at risk of inherited medical conditions.

In December 2004, Keri met with genetic counselor Katherine Hunt. The two began working together to assemble Keri's family medical history, or pedigree. A patient's pedigree tracks cancer and diseases through generations, helping genetic counselors identify patterns that indicate the presence of a mutated gene that can cause a medical disorder.

When a genetic counseling session determines that a patient is at high risk of developing a specific disease, the recommended next step involves genetic testing to see whether a hereditary gene actually exists. In Keri's case, between her young age at the onset of breast cancer, her mother's breast cancer and other pedigree factors, the red flags accumulated quickly. "Given all these risk factors, it's entirely appropriate to consider testing," Ms. Hunt advised.

"My mom did this for all of us," says Keri's daughter Jennifer, pictured here with her mother, baby Christian and family members (clockwise from top left) Ernie, Barb and Larissa.

Mapping the Future

Through blood tests and gene unraveling, physicians are able to locate mutations to certain genes which stop cells from functioning properly and cause medical disorders. "Genetic testing is never required," Ms. Hunt explains, "but it's a powerful source of information and knowledge." In a very real sense, genetic testing gives individuals and families the opportunity to look into their future and preventive action.

Patients who undergo genetic testing and receive a positive result — meaning they do carry a hereditary predisposition for a certain disease — are in a powerful position to make healthy choices that can prolong or even save lives. In Keri's case, proactive steps would have involved regular ovarian cancer and increased breast cancer screening for herself and her daughters, supplemented by healthy diet and exercise choices. And if she chose, a more aggressive approach could have involved a surgical intervention such as oophorectomy to remove at-risk tissue before cancer ever had the chance to grow.

Yet, "Many people who are considering genetic testing feel a sense of guilt and quit before they ever walk through the door," Ms. Hunt explains. "It's just a simple blood draw test, but the issues surrounding it are enormous. People worry, 'What if I'm passing this on to my children and it changes their lives? Would I rather not know?'"

For Keri, the right decision was clear. "I didn't feel particularly responsible for my own genetic makeup," she says. "So if the results were positive, we could make some proactive choices. And if they were negative, we wouldn't have to worry anymore."

Medical team members drew samples of Keri's blood and submitted them to a Utah-based laboratory for testing. Three weeks later, the results were back. Keri's daughter Jennifer accompanied her to Mayo Clinic to hear the results. They held hands tightly as Ms. Hunt read the good news: "You're negative."

Keri and Jennifer both burst into tears of joy. Their genetic makeup did not harbor the mutated genes that cause breast cancer. "It wasn't until I heard the results that I realized how nervous I'd been," Keri says.

The Greatest Gift

While Keri's negative result has given her peace of mind, it doesn't mean that she and her family members will never develop cancer. "The test result means they don't have a hereditary predisposition for cancer," Ms. Hunt explains. "They have a simple, baseline risk — the same risk faced by anyone."

"My mom did this for us," says Keri's daughter Jennifer, pictured here with Keri and new baby Christian.

"I'm really glad I had this test done," Keri says. "I feel that it's less likely I will have a recurrence of cancer. People who have cancer and other medical disorders get so many tests, and often the results of the disease are so damaging. In comparison, one DNA test is nothing."

Mayo Clinic physicians routinely recommend genetic counseling to patients who have risk factors. "Currently, doctors and scientists can test for about 80 percent of hereditary breast cancers," Ms. Hunt explains. This means that one in five persons will have an at-risk hereditary gene that is not yet identified. However, research is moving forward quickly, so patients should endeavor to stay informed as new genes are discovered.

"For me, the decision to go ahead with the testing was as simple as night and day," Keri says. "It was empowering. It put me in a position to make decisions that could really save my family."

"My mom did this for us," Jennifer smiles, holding baby Christian close. "For all of us."