Genetic testing can provide peace of mind, empower patients to take a proactive approach to their health, and it can save lives. UNC’s High-Risk Gastrointestinal Cancer Clinic serves patients and families with a family history of gastrointestinal cancer and those affected by hereditary gastrointestinal cancer syndromes. Lacey Lee came to UNC to make informed decisions about her future.

“Had I not undergone genetic testing and been enrolled in this surveillance program, and instead waited to have my first colonoscopy at the recommended age of 50, I would have likely been faced with a cancer diagnosis long before then,” said Lacey Lee.

“I first learned about cancer at the age of seven, although I didn’t really understand it at the time,” said Lee, a 40-year-old clinical pharmacist whose mother was diagnosed with colorectal cancer at 41.

“I knew my mom was sick and it was serious. Then I learned that my grandfather, her dad, had also died before he was 45, from the same disease. Plus, he had two brothers who had also been diagnosed with cancer, one with colorectal cancer, the other had stomach cancer.”

Discovering that even more extended relatives died from gastrointestinal cancer before they were 50 left her with a burning question. Could she defy the odds? Early on, this question influenced her decision to become a healthcare professional. She began researching gastrointestinal cancer and by the time she was in high school, she came across the term hereditary nonpolyposis colorectal cancer, also known as Lynch Syndrome. She continued her research in college and pharmacy school.

Understanding Her Family Tree

Dr. Robert Sandler & Julianne O'Daniel
UNC’s High-Risk GI Cancer Clinic provides genetic counseling with a four-generation family history, searching for clues to hereditary conditions. Pictured are Dr. Robert Sandler and Julianne O’Daniel.

In 2011, Lee noticed a small skin lesion on her left arm, a precursor to skin cancer and a specific type of lesion associated with the Muir-Torre variant of Lynch Syndrome. During this time, Lee’s 44-year-old brother living in Tennessee was urgently admitted to the hospital for evaluation of a partial small bowel obstruction, and later diagnosed with an advanced small bowel cancer. Lee was 33 at the time and wondered if she’d live to see 50. She researched genetic counseling and testing, and discovered UNC’s High-Risk GI Cancer Clinic, uniquely structured for surveillance. In 2012, Dr. Robert Sandler confirmed her worst fear. Lee carries the Lynch Syndrome genetic mutation and is an MSH2 mutation carrier.

“I knew that I likely had it, but it was still a defining moment to get the answer to the question I had for so long. Having this knowledge gives me the chance to focus on what I can do to prevent cancer, or detect it at the earliest stage.”

High-Risk Surveillance for Patients

Dr. Robert Sandler is director of the UNC High-Risk GI Clinic.

As director of UNC’s High-Risk GI Cancer Clinic, Sandler works with a cross-disciplinary team to manage hereditary GI cancer syndromes. In addition to genetic testing, the clinic works with patients to gather a detailed medical and family history, discuss important issues such as what to do with genetic and family history information, and who to tell, as well as creating a personalized screening plan.

“The worst scenario that I’ve seen is when our genetic counselor shows me a family tree where many people died of cancer because nobody knew about it or they weren’t managed appropriately,” said Sandler. “We would hope that this would never happen again, by identifying these people and their children early.”

“Once a mutation is discovered, we can test relatives to see if they carry the gene. We can reassure those who test negative that they are not at increased cancer risk. For those who are positive, we can set up a surveillance program to prevent them from developing cancer or treat it at an early stage. We keep up with changes in guidelines and new discoveries, so that patients and families benefit from current knowledge.”

Tailored Care Plan Manages the Risk

Following recommendations from the National Comprehensive Cancer Network and the American Society of Clinical Oncology, Sandler worked with Lee and her care team to form a preventative plan. In her routine surveillance, Lee sees four specialist physicians at UNC clinics, along with her primary care physician. She also meets with Sandler once a year to review her care plan.

“We know that the plan may change at any point so that’s a good reason to have regular follow-up visits, because we can revisit the recommendations and guidelines to see if they’ve changed and if we need to change what we’re doing.”

Every year, Lee has a colonoscopy. Every two years, she has an extended upper endoscopy as well as a capsule endoscopy. She also sees a gynecologic oncologist to monitor for early signs of cancers of the reproductive system–including endometrial and ovarian cancer–and she has a transvaginal ultrasound annually and CA125 blood test every 6 months. Lee was encouraged to discuss family planning and reproductive options; however, she and her husband have decided on adoption. As a risk reduction for gynecologic cancers in Lynch Syndrome, Lee is planning to have a total hysterectomy. In addition, the risk for cancer of the upper urinary tract exists, especially in MSH2 mutation carriers. Therefore, a urinalysis and urine cytology are done every 6 months to watch for abnormal cells and hematuria (blood in the urine). Lee also continues to see her dermatologist annually for skin lesion and skin cancer surveillance.

“While there’s no guarantee that I will never have to face a cancer diagnosis, my mind is at peace in knowing the early surveillance and level of care I receive is working to prevent it, and will likely make it possible to detect it at a very early stage, thus increasing the chance of successful treatment.”

In 2016, Lee’s first precancerous polyp was discovered during her annual routine surveillance colonoscopy. She was 38 years old at the time. “Had I not undergone genetic testing and been enrolled in this surveillance program, and instead waited to have my first colonoscopy at the recommended age of 50, I would have likely been faced with a cancer diagnosis long before then. The surveillance program has made it possible for me to be screened at a much younger age, and hopefully prevent cancer before it develops, or at least detect it in its earliest stage of development.”

Lee turned 40 last September, but for a long time she never knew whether she would see a healthy 40. “I know that I’m in excellent hands, and I think the multidisciplinary services and comprehensive care offered by this clinic are wonderful.”

In 2013, Lacey Lee was featured in this news story: UNC researchers push for new health screening strategy.

To learn more about the clinic, visit: UNC’s High-Risk Gastrointestinal Cancer Clinic.