Genetic screening reveals surprising condition

When Tammy LeDoux heard about a DNA sequencing research study, she opted to participate out of curiosity to learn more about her ancestry. She never imagined the outcome would lead to finding a tumor the size of a pineapple growing on her left ovary. Or that precancerous polyps were lurking in her stomach and colon.

The surprising discoveries came after Tammy underwent genetic screening through the Mayo Clinic Center for Individualized Medicine.

"The results came back that I have Lynch syndrome, which I'd never heard of," says Tammy.

The disorder is associated with an 80% risk of colorectal cancer, and a 50% risk of uterine and endometrial cancer.

"I couldn't believe it. I'm beyond grateful. I feel like I've been given this look inside to things that could have happened to me in the future," says Tammy, an information technology analyst from Menomonie, Wisconsin.

Tammy's experience mirrors that of many other patients who were unaware of their disease risk before participating in the center's DNA sequencing research study called Tapestry.

Along with roughly 100,000 people who chose to participate in the Tapestry study, Tammy was screened for three hereditary conditions: familial hypercholesterolemia (hereditary high cholesterol), hereditary breast and ovarian cancer (BRCA1 and BRCA2), and Lynch syndrome.

Tammy's journey with Lynch syndrome

Upon receiving her genetic screening results, Tammy met with genetic counselors twice to learn about her risks of different types of cancers.

During follow-up appointments, Tammy's care team educated her on Lynch syndrome and helped schedule various screenings.

She had a uterine biopsy at Mayo Clinic Health System in Menomonie, in addition to an upper endoscopy, colonoscopy and ultrasound. These screenings uncovered eight polyps in her stomach and two colon polyps, some with precancerous characteristics.

Three concerning moles on her skin were removed by Tammy's dermatologist, Patrice Hicks, M.D., at Mayo Clinic Health System in Eau Claire.

After speaking with her care team and learning that the risk of having endometrial cancer was 80% to 90%, she decided to undergo a hysterectomy to reduce her cancer risk.

"The immediate recommendation from my doctors was to have a preventive hysterectomy," explains Tammy. "The care between Mayo Clinic Health System and Rochester providers was seamless. Everybody was on the same page, and everything was just like clockwork."

It was during this procedure at Mayo Clinic in Rochester, Minnesota, that surgeons discovered and removed the sizable benign tumor on her left ovary.

"I never had any cramping. I never had any pain. I never felt anything hard or lumpy in my abdomen or down in my pelvic area. I never knew anything was there," says Tammy.

Seeing the value of genetic screening

While Tammy didn't know what to expect when she volunteered, researchers leading the Tapestry study anticipated that nearly 2% of participants would receive a positive result from the screenings based on existing literature.

"We need to do a better job of educating people about the value of genetic screening for rare, but preventable, conditions," says Konstantinos Lazaridis, M.D., the Carlson and Nelson Endowed Executive Director for Mayo Clinic's Center for Individualized Medicine.

Dr. Lazaridis says Mayo Clinic is advancing the idea of bringing genetic screening to routine patient care to help identify patients at high risk for cancer and other diseases, enabling earlier screening and mitigating the risk of cancer, the need to use expensive and limited therapies for advanced disease, and reducing premature deaths.

The goal is to coordinate care with earlier diagnosis and treatment from genetic testing and counseling to benefit more patients, as it did for Tammy.

Tammy's positive outlook

One year later, Tammy looks back on the steps she's taken to be proactive about her health and keep a positive outlook during that time.

"I've been through the wringer, but now I have peace of mind knowing I've reduced my risks for cancer," she says.

When people ask her about her experience, Tammy is open about sharing the benefits of routine screenings and preventive care.

"It's good to know because you can be proactive about your care, and you're going to have a much better result than waiting until symptoms show up," she says.

Tammy recently met with her primary care provider, Jessica Winterfeldt, M.D., at Mayo Clinic Health System in Menomonie for a follow-up appointment.

"She said, 'Well, it's good to see you. You've been through a lot this last year.'" recalls Tammy.

Going forward, Tammy will continue to have a colonoscopy and endoscopy every two years and see her dermatologist every six months.

"There's so much preventive care I can do now versus what I didn't know," says Tammy. "I honestly feel like knowing these genetic results has saved my life."