Lynch syndrome and the value of genetic testing

About 1 million Americans have a hereditary condition that can dramatically increase their risk for colorectal and other cancers. But without genetic testing, many of them have no idea.

Nikhilesh Korgaonkar, MD, FACS.

The condition is called Lynch syndrome, and The Gene Health Project at WellSpan Health is helping bring its details to light. Volunteers donate a saliva or blood sample and receive free genetic testing that shows whether they carry the mutations associated with Lynch syndrome or two other genetic conditions (familial hypercholesterolemia and hereditary breast and ovarian cancer syndrome). Their DNA also joins the world’s largest biobank to aid future research.

“So far we have identified nearly 200 people with Lynch syndrome,” says Nikhilesh Korgaonkar, MD, FACS. Dr. Korgaonkar, a thoracic surgeon, serves as vice president and chief medical officer of WellSpan’s Oncology Service Line and provides senior leadership over the WellSpan Cancer Institute and Precision Medicine programs.

In one case, a volunteer learned she had Lynch syndrome right after her mother was diagnosed with colorectal cancer. Rather than feeling defeated, the woman became inspired to improve her health and encourage others to get tested.

“Stories like these show the value of genetic testing. People overwhelmingly use positive test results as motivation to make positive changes in their lives,” says Dr. Korgaonkar.

Lynch syndrome is rare, but the risk can be significant

Lynch syndrome is linked with multiple cancers. Colorectal and uterine cancer are the most common. People with the syndrome also have an increased risk for small bowel, gastric, ovarian and urinary tract cancer.

Five gene mutations can cause the syndrome, and each mutation increases the risk for different cancers by different amounts. That’s why genetic testing is so valuable: It not only confirms a diagnosis but also provides a personal risk profile. Based on their risk, patients should get accelerated cancer screenings and may consider a range of preventative measures, from lifestyle changes like quitting smoking to clinical interventions like hysterectomy.

Who should get screened?

Screening for Lynch syndrome is standard for patients already diagnosed with colorectal or uterine cancer. Otherwise, people need to seek testing proactively.

“Anyone with Lynch-related cancers in their family history should get tested — especially when relatives develop cancer before age 50. Early onset suggests a genetic predisposition,” says Dr. Korgaonkar.

One woman’s journey: From diagnosis to better health

As noted in the introduction, one volunteer’s story stands out — both for the timing of her diagnosis and for her commitment to better health that followed it. She was in her 50s with no family history of cancer when she volunteered for The Gene Health Project. Before her genetic test results came in, her mom was diagnosed with colorectal cancer. Days later, the woman received a call from David Kann, MD, MPH, medical director of Precision Medicine at WellSpan Health and co-lead of The Gene Health Project. He explained that her results were positive for Lynch syndrome.

Like 98% of volunteers, the woman opted for genetic counseling — offered free to everyone with a positive result. She met with Tatiana Chichilla, MS, CGC, the next day.

Getting details and support

Chichilla explained that the woman has a mutation in the MSH6 gene, which gives her a 10% to 44% risk of developing colorectal cancer. Chichilla drafted a letter for the woman to share with family members, explaining her diagnosis and their eligibility for genetic testing.

She also helped the patient cope with her main fear: not being around for her mother and children.

“I told her how meaningful that was. In this difficult moment, she was concerned about other people,” says Chichilla. “Then we talked about what steps she can take to protect her health.”

Taking control of her health

The patient will now receive colonoscopies every one to three years, based on guidelines for her genetic mutation. She previously had a hysterectomy, so uterine cancer isn’t a concern. To avoid ovarian cancer, she opted to have her ovaries and fallopian tubes removed.

At home, she is improving her eating and exercise habits — to do everything she can to maximize her health and protect her future.

“Learning you’re at higher risk for cancer is hard news, but most people feel empowered by that knowledge,” says Chichilla. “It gives them a chance to take action.”