Family

News | 5 days ago

The Future of Personalized Cancer Care: How Genetic Testing Changed John’s Life

John Meehan was diagnosed with metastatic colon cancer in 2023. But results from DPYD genetic testing recommended by John’s oncologist, Dr. Johann Hsu at Atrium Health Levine Cancer, has allowed John to follow a tailored treatment plan that helps reduce the risk of severe side effects–giving him a better quality of life and more time with his family.

John Meehan and his wife, Mary Ellen, moved to Charlotte from New York in 2022. Between the move and the busyness of life, John put off his routine colonoscopy for two years–a decision he would later regret.

By November 2023, John’s gastrointestinal symptoms worsened to the point where he finally made an appointment to discuss scheduling a colonoscopy. But the severity of his symptoms led to running some preliminary tests before the colonoscopy. The results concluded that rather than a colonoscopy, John would need chemotherapy. John was diagnosed with metastatic colon cancer.

“I was shocked and didn’t know what to do next,” John recalls. “My wife and I were still pretty new to Charlotte, but we had heard great things about Levine Cancer, so we decided to make an appointment and go from there.”

Shortly after receiving his diagnosis, John and Mary Ellen met with Dr. Johann Hsu, an oncologist at Atrium Health Levine Cancer. John says they immediately felt their tension ease as Hsu answered their questions about John’s prognosis and treatment plan.

"Dr. Hsu was fantastic," John recalls. "He instilled so much confidence in us right from the start. It was very reassuring to talk with him." 

The role of DPYD testing

During his appointment, Hsu recommended DPYD testing as part of John's treatment plan. Hsu explained the purpose of the test: to tailor John's chemotherapy to his genetic makeup, reducing the risk of severe side effects. 

The DPYD gene provides instructions for making an enzyme called dihydropyrimidine dehydrogenase (DPD), which helps break down certain chemotherapy drugs, such as fluorouracil and capecitabine. These drugs are commonly used to treat various cancers, including colon cancer.

Some people have variations in the DPYD gene that reduce the activity of this enzyme. If these individuals receive standard doses of these chemotherapy drugs, their bodies can't break down the drugs efficiently, leading to severe side effects or even life-threatening toxicity.

Testing for DPYD gene variations helps doctors identify patients who might be at risk for these severe side effects. With this information, doctors can adjust the chemotherapy dose to a safer level tailored to the patient's genetic makeup. This personalized approach helps reduce the risk of severe side effects and hospitalization.

John underwent the DPYD testing, which involved a mouth swab for him, but can also be done with a blood draw. The results showed that John was a carrier of the genetic variant causing reduced function of the DPYD enzyme.

“This information allowed us to decrease John's initial chemotherapy dose by 50%, likely preventing life-threatening complications and toxicity,” Hsu says.

John says in addition to Hsu, Sarah Hanson, a pharmacist at Levine Cancer, has been instrumental throughout his treatment. 

“Sarah spent a lot of time preparing me for what was ahead and supporting me throughout the process” John says. “My wife was also a neurosurgical oncology nurse, so she knew what to expect, too. And my son Ryan has been by my side from the start. Between them and Dr. Hsu, I had a great support team looking out for me right from the start.”

John's treatment plan has included regular monitoring and adjustments based on his tolerance. Despite experiencing some side effects, such as a rash and mouth sores, the team at Levine Cancer quickly adapted his treatment and prescribed medication to alleviate John’s discomfort.

John believes that genetic testing has been crucial in his journey, providing confidence in his care and improving his quality of life.

"Thanks to my results from the genetic testing, my care team can lessen the dose and I can still have a good quality of life."

The future of personalized cancer treatment

Levine Cancer has been at the forefront of DPYD genetic testing, as highlighted in a recent study published by the pharmacogenetics team. The study explains how routine DPYD gene testing has a positive impact on patient outcomes by tailoring chemotherapy treatments to reduce toxicities and hospitalizations. In fact, investigators showed that in over 400 patients tested, those that were identified as carriers of this genetic variation and who received an upfront dose adjustment had significantly fewer severe toxicities and hospitalizations compared to those who may be identified as carriers after starting standard treatment. The study also showed the implementation of an in-house DPYD testing program successfully addressed barriers such as limited education, high costs and prolonged turnaround times, making it one of the few major U.S. cancer centers to offer this testing routinely.

As John continues to follow the plan suggested by his care team, he remains optimistic and grateful for the advancements in cancer treatment.

"Dr. Hsu reminds me that this is a marathon, not a sprint," John shares. "So, I just take it one day at a time and trust the process. Right now, this treatment plan is working for me, and I am grateful for the team at Levine Cancer and the cutting-edge treatment options they have available for patients like me."

John hopes the DPYD testing program will allow more people to have access to genetic testing, so their treatment plans can be adjusted as his have been.

"I am a testament to the progress being made through this resource," John says. "I realize there’s no guarantee, and each person is unique so they should consult with their oncologist. But my experience emphasizes the importance of personalized cancer treatment and the advancements made possible by genetic testing.”

As John continues his journey, he remains committed to traveling and spending quality time with his family, all while trusting in the care provided by Hsu and his care team.

“I owe everything to my wife – my rock – and to Levine Cancer,” John says. “Everyone there has been exemplary. They are angels on earth and treat me and my wife like family. I know I wouldn't be here if it wasn’t for them.”

Learn more about the cutting-edge care at Atrium Health Levine Cancer.