In honor of Patient Advocacy Day, Ambry connected with a genetic counselor and one of her former patients to find out how genetic testing made a difference for his healthcare and inspired him to advocate for other patients.
Ofri Leitner, MS, LCGC, is a genetic counselor who currently manages the Oncology Genetics Program at UNC Rex Cancer Center in Raleigh, North Carolina. She has spent much of her career in direct patient care because she loves working with people and educating them and their health care providers about the importance of getting genetic testing.
One of the patients she worked with was Tom Vibert. An industrial engineer from Greensboro, North Carolina, Tom is also a stage four colon cancer survivor. He underwent genetic testing with Ambry in 2012, which revealed he is positive for Lynch syndrome (MLH1+). Now semi-retired, Tom serves as a patient advocate who uses his experience to encourage others to pursue genetic testing.
Tom’s Health Journey
Tom has an extensive family history of cancer, including his father, who was diagnosed with colorectal cancer in his fifties; paternal grandparents who both had colorectal cancer; and two cousins who passed away at the ages of 35 and 41 from colorectal cancer. Despite this history, no one offered Tom genetic testing until he was diagnosed with cancer himself.
When his care team told him they wanted to order genetic testing, he initially thought, “I was mentally focused on having cancer and fighting that. Then I came to the realization that I was not in control and had no idea how to fight cancer, so I wanted to give them the tools they were asking for.”
The genetic testing revealed Lynch syndrome, the most common hereditary cause of colorectal cancer.1 It is also associated with several other types of cancer. As is often the case in Lynch syndrome, Tom’s cancer showed microsatellite instability (MSI). This is a type of biomarker and means short, repetitive sequences of DNA are unstable and show significant variations in length. Tumors that show MSI are more likely to respond well to immunotherapy.2 This was important because after having undergone two years of chemo and radiation, he qualified for an immunotherapy clinical trial. At the time, the immunotherapy drug was approved for certain lung cancers and melanoma. Though Tom had colon cancer, his MSI status related to his Lynch syndrome diagnosis made him a candidate. It turned out to be a gamechanger. Today, Tom can say he is cancer-free with no evidence of disease. He now believes genetic testing was “the most important thing” he did health-wise, and the insights gained continue to inform his medical management and annual screenings.
After Tom learned that he had Lynch syndrome and begin sharing this news with relatives, he realized other family members may have previously had genetic testing, but they didn’t discuss it.
Although Tom’s diagnosis was more than a decade ago, his genetic counselor Ofri Leitner comments, “Unfortunately, it’s not too surprising [that he wasn’t offered genetic testing sooner]. This is still common, depending on a lot of factors, including the availability of family history and whether relatives have communicated it accurately. When patients are navigating cancer, they often describe it to me as trying to learn a new language. Results from a genetic test get tucked away and forgotten, and then they aren’t shared with relatives. Unfortunately, we miss an opportunity to find folks who are at risk, potentially screen them earlier, and possibly even prevent the cancer.”
The further removed a patient is from the relative who had cancer, the more the information can be diluted. Leitner recommends follow-up questions like: What cancer did your relatives have? At what age did your relative get diagnosed? Did they get genetic testing, and can you get a copy? These elements ensure the right information can be passed on to healthcare providers and other family members.
Genetic Testing Can Save Lives
In Tom’s case, his brother and three aunts also had genetic testing—and three of them were negative, which means a normal result. A negative result is a good thing—but if the test reveals a genetic mutation, it helps healthcare providers individualize cancer treatment options as well as options to reduce risk or identify cancer sooner.
Genetic test results may inform cancer surgery plans, identify that someone is a candidate for targeted therapies, qualify individuals for clinical trials, and help patients tailor their future cancer screening plans. The whole goal of genetic testing is to be proactive.
Tom puts it this way: “What you can know and when you can know it is an amazing thing. The ability to know things early is important. The knowledge from genetic testing lets you stay on offense; you're in charge. You're being proactive. Not knowing your risk, you can get blindsided like I was. And I had to play a lot of defense before I could get back to playing offense. Genetic testing was absolutely the most important thing I did in my fight—maybe if I had done it earlier, I could have avoided the fight.”
As a genetic counselor, Leitner is working to ensure genetic testing is more readily available to people. She wants to reach more people by giving providers the tools they need to be able to recognize that patients qualify for genetic testing and to offer it at point-of-care, rather than always referring them to a genetic counselor. "By making testing available when patients are seen for routine care, we can increase access and identify more patients with hereditary cancer risk, and that means more people will be able to be proactive and get the right screenings at the right time, perhaps even reduce the chance of getting cancer," says Leitner.
She hopes genetic testing will become more streamlined so that it can one day become the standard of care and be offered to everyone at age-appropriate times, not just people with cancer; not just to people with a specific condition.
The Road to Advocacy
In 2016, Tom was at a stable place in his treatment plan. Cancer research had made a difference in his journey, and he wanted to start giving back. He participated in a charity bike ride that supported cancer research for three local hospitals and that was the beginning of his patient advocacy.
In 2018, Global Colon Cancer Association contacted him because of the clinical trial, and he recorded a video with them (click here to see the video.) A large biotech company requested his testimonial about the importance of biomarkers in cancer treatment. As Tom shared his story, he also learned more about genetic testing, biomarkers, next generation sequencing, and pan-cancer therapies. He realized that without knowing it, he had received the best care options available. He just assumed that his experience was typical, but he learned this was not the case. Now he advocates to ensure every patient has the same access to these technologies.
Because of these opportunities, he has been able to speak with some members of his care team. He reflected, “There are so many people behind a cancer fight that a patient will never meet.” That realization happened for Tom in the clinical trial tent at a 5K for colon cancer. Someone recognized his name, and it turned out to be the lab technician who had mixed Tom’s immunotherapy cocktail for over two years! He thought, “Wow! I never even thought about him, but he was an absolutely huge part of my fight.”
Eleven years later, he met a genetic counselor employed by Ambry at a conference who knew Ofri and reconnected them. Ofri says a genetic counselor doesn’t get to form the same type of ongoing relationship with a patient as a physician, oncologist, or surgeon, since they often only meet a couple of times to discuss test options and results. About Ofri, Tom said, “I don’t know if she ever knew that what she was a part of in my [cancer] fight was absolutely the most important thing I did.”
He wants every person who contributes to the fight against cancer to realize there are patients out there that they've helped, even if they never meet, and their contributions make a positive difference.
References
