Genetic screening reveals condition

When Tammy LeDoux heard about a DNA sequencing study, she chose to participate out of curiosity to learn more about her ancestry. She never expected that the result would be a pineapple-sized tumor on her left ovary. Or precancerous polyps lurked in her stomach and colon.

These surprising findings came after Tammy underwent genetic screening through the Mayo Clinic Center for Personalized Medicine.

“It turned out I had Lynch syndrome, which I had never heard of,” Tammy said.

The disease is associated with 80% of the risk of colorectal cancer and 50% of the risk of uterine and endometrial cancer.

“I can’t believe it. I’m so grateful. I feel like I have an understanding of what could happen to me in the future,” said Tammy, an information technology analyst from Menomonie, Wisconsin.

Tammy’s experience is similar to that of many other patients who were unaware of their risk for the disease until participating in the center’s DNA sequencing study, called Tapestry.

Tammy joins approximately 100,000 people who have chosen to participate in the Tapestry study and is being screened for three genetic diseases: familial hypercholesterolemia (inherited high cholesterol), hereditary breast and ovarian cancers (BRCA1 and BRCA2), and Lynch syndrome levy.

Tammy’s journey with Lynch Syndrome

After receiving her genetic screening results, Tammy met with a genetic counselor twice to learn about her risk for different types of cancer.

During a follow-up appointment, Tammy’s care team educated her about Lynch Syndrome and helped arrange various tests.

In addition to an upper endoscopy, colonoscopy and ultrasound, she also had a uterine biopsy at Mayo Clinic Health System in Menomonie. Those tests found eight polyps in her stomach and two colon polyps, some of which had precancerous characteristics.

Tammy’s dermatologist, Dr. Patrice Hicks, removed three worrisome moles from her skin at Mayo Clinic Health System in Eau Claire.

After talking with her care team and learning that the risk of endometrial cancer was 80 to 90 percent, she decided to have a hysterectomy to reduce her risk of endometrial cancer.

“My doctor immediately recommended that I have a preventive hysterectomy,” Tammy explains. “The care between the Mayo Clinic Health System and Rochester providers was seamless. Everyone was on the same page and everything worked like clockwork.”

It was during surgery at the Mayo Clinic in Rochester, Minnesota, that surgeons discovered and removed a large, benign tumor on her left ovary.

“I never had any cramps. I never had any pain. I never felt any hardness or lumps in my abdomen or pelvic area. I never knew there was anything there,” Tammy said.

See the value of genetic screening

While Tammy didn’t know what would happen when she volunteered, researchers leading the Tapestry study expected that nearly 2 percent of participants would get a positive result from the screening, based on existing literature.

“We need to better educate people about the value of genetic screening for rare but preventable diseases,” said Constantinos Lazaridis, executive director of the Carlson and Nelson Endowment for Mayo Clinic Center for Personalized Medicine in Medicine. said the doctor.

Dr. Lazaridis said the Mayo Clinic is advancing the idea of ​​integrating genetic screening into routine patient care to help identify patients at high risk for cancer and other diseases, allowing for early screening and mitigating cancer risk, as well as using The need for expensive and limited therapies.

The goal is to coordinate care with early diagnosis and treatment through genetic testing and counseling to benefit more patients, just like Tammy has done.

Tammy’s positive attitude

One year later, Tammy reflects on the steps she took during that time to be healthy and stay positive.

“I’ve been through pain, but now I have peace of mind knowing that I’ve reduced my risk of cancer,” she said.

When people ask her about her experience, Tammy is willing to share the benefits of routine checkups and preventive care.

“It’s good to know this because you can be proactive with your care and get better outcomes than waiting until symptoms appear,” she said.

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

“She said, ‘Well, it’s nice to meet you. You’ve been through a lot in the last year,'” Tammy recalled.

Going forward, Tammy will continue to have colonoscopies and endoscopies every two years and see her dermatologist every six months.

“I can do a lot more preventative care now than I knew I could,” Tammy said. “Honestly, I think knowing these genetic results saved my life.”