Building a New Model of Care for Young Adults With Colorectal Cancer
April 20, 2021
By Saul Wisnia
David Thau had been experiencing symptoms for years: intermittent stomach aches and nausea, bloody stools, and — most recently — shortness of breath when climbing stairs. A cardiologist could find nothing wrong with his heart, and other doctors were similarly stumped. So Thau ignored the pain, until it grew so bad in June 2019 that he wound up in the emergency room.
Alexa Morell first noticed blood in her stool while on a weekend getaway with friends in August 2020. She was nervous, but her companions — a group including several nurses — assured Morell it was likely just a hemorrhoid. After examining her, Morell's primary care physician and a gastroenterologist agreed. Relieved, Morell scheduled a colonoscopy to confirm the diagnosis.
In the end, both Morell and Thau were shocked by the actual cause of their problems: They had colorectal cancer.
Thau was 34. Morrell was 29. Years ago, that would have been startling, but colorectal cancer cases are steadily rising among men and women under age 50.
"Until I got my scan results, the thought of cancer just never crossed my mind," says Thau of his diagnosis. "I didn't know the warning signs and, at 34, I didn't think it was a possibility. My doctors didn't either."
Dana-Farber/Brigham and Women's Cancer Center (DF/BWCC) is working to change that thinking — and the statistics. At its Young-Onset Colorectal Cancer Center, staff are focused on treating patients, educating the public, and uncovering the genetic precursors to colon and rectal cancers. As they help young survivors with family planning, work-treatment balance, and other issues central to their age group, they are simultaneously seeking reasons why their numbers are going up.
Through greater awareness, and widespread adoption of preventive techniques like genetic screenings and colonoscopies, clinicians and researchers are hoping to catch cancers sooner, when they're generally more treatable, or prevent them from developing altogether.
We hear over and over from the very many young patients whom we're seeing now that they didn't even know what colorectal cancer was before their diagnosis," says Kimmie Ng, MD, MPH, who founded the center in 2019 and serves as its director. 
"There was no reason for them to necessarily know about it, because it's traditionally been thought of as a disease of older people, with a median age of diagnosis in the late 60s or early 70s. And when you're young and otherwise healthy, and you lead a healthy lifestyle, cancer is just not on your radar."
This is also true, Ng says, of the primary care physicians and other providers who see younger patients when they first seek medical attention for their symptoms. Many providers don't consider cancer as a likely cause, which can lead to long delays in diagnosis — and a more advanced stage at diagnosis. Most young patients with colorectal cancer are diagnosed with stage III or IV cancer, which can be harder to treat.
Kimmie Ng, MD, MPH (on screen) with a telemedicine patient
Colorectal Cancer Screenings and Studies
Colorectal cancer, defined as disease that forms in the tissue of the colon, rectum, or both, is the third-leading cause of cancer for men and women in the United States — and the second-leading cause of cancer deaths when men and women are combined. Effective screening programs for people age 50 and older has led in recent years to a steady decline in both diagnoses and mortality rates for this group, but the opposite is happening in those younger than age 50. The number of men and women under age 50 diagnosed and dying of colorectal cancer is growing about 2% annually, and most people in this group are not being screened regularly.
The U.S. Preventive Services Task Force, concerned with this development, now recommends regular preventive screenings for those at average risk for colorectal cancer beginning at age 45 — down from age 50. Screening options include stool-based tests and colonoscopies, but the American Cancer Society and the staff within the Colon and Rectal Cancer Center at DF/BWCC — of which the Young-Onset Center is a part — cite colonoscopies as the best way to prevent colorectal cancer and detect the disease at an early stage.
The 2020 death of actor Chadwick Boseman from colon cancer at age 43 brought much-needed attention to colorectal cancer, and the fact that younger, healthy people can develop it. Despite being in treatment for four years, the "Black Panther" star was in excellent physical shape. He also kept his condition hidden from fans and many friends, underscoring what clinicians and patients agree is another challenging aspect of colorectal cancer: It is not something many people feel easy talking about — even superheroes.
"We need to normalize conversations about your bowel habits and symptoms," says Ng. "By talking about colorectal cancer on a national stage, which happened when Chadwick Boseman died, we can help more people learn about this disease, open up about their symptoms, and get them seeking medical attention earlier. That will save more lives."
Another step aimed at saving lives: research into possible genetic causes for colorectal cancer – including those with an inherited risk. According to Matt Yurgelun, MD, a medical oncologist and expert in cancer genetics at DF/BWCC, one in six individuals diagnosed before age 50 has an identifiable inherited predisposition to colon or rectal cancer. In order to hunt down these precursors, each person seen in the Young-Onset Colorectal Cancer Center is offered genetic testing. If a relevant genetic alteration is found, they are then seen by Yurgelun or another physician at Dana-Farber's Center for Cancer Genetics and Prevention.
An early-onset colorectal cancer diagnosis should always be a red flag for possible inherited risks to cancer. "For individuals with specific forms of inherited cancer risk, there may be some particular changes to their treatment, like targeted therapies or specific surgical interventions, that should be considered for treatment of their colorectal cancer, as well as steps for at-risk family members to take."
Environmental factors, including obesity and a sedentary lifestyle, are also very strongly linked to colorectal cancer, but Ng says she doesn't believe these in and of themselves are the sole cause of the rise in under-50 diagnoses — since the vast majority of patients seen in the young-onset clinic at DF/BWCC are healthy and active, and consume a good diet. A rise in the use of antibiotics by younger people, and a vitamin D deficiency due to increased time spent indoors, are other possibilities.
"One of the biggest hypotheses is related to the microbiome, the trillions of organisms that live in our gut and profoundly impact a variety of different chronic diseases," explains Ng. "Diet and lifestyle very closely shape our microbiome, which is located right where colon cancers develop in our gut. The microbiome is thought to have a major role in why colon cancers happen, and we're trying to further explore how exactly it could be contributing to young-onset disease."
Friends and Family (Planning) for Colorectal Cancer Patients
While the Young-Onset Colorectal Cancer Center looks to provide answers and prevent future cases, it also serves as a source of information and assistance for current patients. With access to a series of ongoing events and resources, survivors like Morell — the mother of a toddler — can find understanding in the waiting room and the exam room.
Mary-Brent Brown, the center's research and program coordinator, is the go-to source for patients and families. Social worker Karen Fletcher, MSW, MPH, who specializes in the psychosocial needs of younger adults and their caregivers, leads a series of monthly brown-bag lunches for active and past patients. Started by her predecessor, Katelyn MacDougall, MSW, LICSW, as regular events held on Dana-Farber's Longwood campus, the lunches moved to Zoom at the start of the COVID-19 pandemic.
For the past two years, the center has marked Colorectal Cancer Awareness Month (March) by hosting free educational events for patients and their loved ones. The 2021 series, held on Zoom over six March afternoons, featured a keynote event with Professor Ibram X. Kendi, a leader in antiracist research and a stage IV colorectal cancer survivor. There were also sessions on living well, diet and exercise, and insights from a panel of research experts — moderated by Ng — on the latest clinical trials, microbiome research, and immunotherapy options. Attendees had the opportunity to make connections during breakout sessions and other online activities.
Such offerings have played a pivotal role for Thau in his treatment and recovery. He met with MacDougall during each of his 12 chemotherapy sessions at Dana-Farber from July to December 2019, and credits her for helping him feel more comfortable discussing his condition. Attending Fletcher's brown-bag lunches provides an opportunity to swap stories with people who can relate to his treatment side-effects, and his diagnosis prompted him to encourage his younger brother also get screened.
Thau's most advantageous moment at the Young-Onset Colorectal Cancer Center, however, came early on.
"The center was incredibly helpful on the front end, helping me prepare for what I needed to do," Thau explains. "I was thinking about starting a future family with my wife, Lisbeth, and right away they told me they felt that chemo may potentially damage my sperm. So, before I even began treatment, I banked some sperm.
"Your head is spinning when you're that young and find out you have cancer," he adds. "But the more I learned about colorectal cancer, the more I saw how many people my age were getting it. That's why awareness and screening and other steps like family planning are so critical. This is a preventable disease."
Who Should Be Screened for Colorectal Cancer?
Using genetic screening to identify an inherited cancer predisposition syndrome can uncover other cancer risks, and help patients mitigate those risks through appropriate surveillance or other means. According to DF/BWCC oncologist and genetics expert Matt Yurgelun, MD, it can also help to prevent cancer in at-risk family members.
Even in cases where a specific inherited predisposition syndrome cannot be found for an individual with young-onset colorectal cancer, Yurgelun says, it is important for the patient's family members to get screened. Anyone with a parent or sibling with colorectal cancer should begin their own colorectal cancer surveillance no later than age 40, or 10 years younger than the earliest colorectal cancer diagnosis in the family, whichever is earlier. Individuals with specific forms of inherited colorectal cancer risk, including Lynch syndrome — a genetic condition associated with higher risk — should begin colorectal cancer surveillance even earlier, and often need screening for other forms of cancer.
"We're just starting to scratch the surface of other factors that influence risk for young-onset colorectal cancer, beyond inherited genetics," says Yurgelun, who directs Dana-Farber's Lynch Syndrome Center. "Many individuals with inherited risks of colorectal cancer do not develop it. On the other hand, some individuals lacking identifiable inherited risk syndrome are nonetheless struck with a young-onset colorectal cancer diagnosis.
"As we come to understand the factors that modify genetic risks, including behavior, diet, lifestyle, and immunologic factors," he adds, "we can better personalize our risk assessment and prevention strategies."
Dr. Matthew Yurgelun on Lynch Syndrome and Young-Onset Colorectal Cancer
Matthew Yurgelun, MD, Director of Dana-Farber's Lynch Syndrome Center, discusses the link between Lynch syndrome and young-onset colorectal cancer, and the importance of genetic testing for young colorectal cancer patients.