Can polyps detected by early screening help to identify individuals at risk of hereditary colorectal cancer syndromes?
Linda Steinmark, MS, LCGC - Clinical Education at JAX
Because March is Colorectal Cancer Awareness Month, we wanted to circle back around to the screening guideline released by the American Cancer Society (ACS) last May. What have been the effects in practice? Are young people who didn’t know they were at risk of a hereditary colorectal cancer syndrome coming to attention because they’ve been screened and found to have concerning polyps?
Increase in referrals in patients under 50
I spoke with Dr. Neil D. Parikh, a gastroenterologist (GI) with ConnecticutGI, who is clearly passionate about screening and colorectal (CRC) prevention. He told me there has definitely been an increase in referrals for screening in patients under 50. He said the media coverage about the American Cancer Society’s “45 is the new 50” recommendation has done a great job to increase CRC awareness. Dr. Parikh says we haven’t even seen the full effect yet. “More people are aware of their gut health and the earlier age for starting screening,” he said.
Dr. Parikh says GI docs are experiencing the rise in CRC in younger patients first-hand. “If you speak with 20 gastroenterologists, all 20 will be able to provide you with multiple anecdotes of patients in their 40s who were diagnosed with colon cancer.”
Increased screening leading to more genetic risk assessment
So, has this increased awareness and earlier screening led to more genetic risk assessment? Dr. Parikh says “yes,” and has seen this happening in two ways. First, younger asymptomatic people are having colonoscopies because of the new guidelines. Discovery of polyps (multiple polyps or advanced lesions) leads to genetic risk assessment. Previously, only those younger patients who experienced symptoms were making it into this process. Secondly, younger patients are now asking if they need to undergo CRC screening because they have heard or read about the updated guidelines. This is key, he says, because the provider then asks more questions about family history, leading to more genetic risk assessment for hereditary cancer syndromes.
Talking to patients about family polyp history can identify those at increased risk
During these conversations, Dr. Parikh recommends that providers not only ask about the family history of colon and other types of cancer and ages they occurred, but also about the family history of polyps. The main things about colon polyps that should alert providers for the need for further risk assessment are: type, size, and number.
- Type: Most patients won’t be familiar with the term “adenoma,” or other rare histologies. They are more likely to know if there was anything concerning found during colonoscopy. Dr. Parikh has some communication tips, which he’s shared below, to help providers gather this information.
- Size: Large polyps, especially > 1 cm
- Number: History of multiple adenomas
Location of polyps can also provide a clue for risk assessment: small polyps in the rectum or sigmoid are typically less likely to be pre-cancerous, while most polyps proximal to the sigmoid carry some pre-cancerous potential.
Dr. Parikh cautions that what patients report can lead to very different outcomes. For example, if the patient reports only 1-2 polyps and not size or histological data, it may not rise to the level of concern for increased surveillance or genetic testing. Elucidating the type of polyps in the family history can be even trickier. Facilitating informative conversations about polyp history starts with GI providers, he told me. He thinks it is critical for patients to know the type and size of polyps found.
Strategies to help patients keep track of their polyp history
To facilitate more meaningful communication between patients and their provider, Dr. Parikh encourages GIs to use plain language when discussing the histology of colonoscopy findings, such as precancerous vs. benign, or real vs. fake. Currently, patients rarely know this information, and what they report may be the main source of information that triggers a genetic risk assessment. When asking about polyp history, using plain language may help differentiate whether there is a history of pre-cancerous tubular or serrated adenomas, which do contribute to genetic/familial risk, or hyperplastic polyps, which are common and not as concerning.
Ten to 15 years ago, the gastroenterologist would speak with the patient as they were coming out of the procedure when the chance of remembering was slim. “Now,” Dr. Parikh said, “when they head home, we try to include in their report our prediction of the type, size, number and location of polyps found and the expected plan for when to come back for their next colonoscopy.” A follow-up call discussing pathology corroborates this information. Then, the patient has accurate information that is easily shared with their provider and family members.
As people move between providers and geographic locations, it becomes more difficult to keep a running record of colonoscopy findings. For now, he says, the best we can do is educate our patients in the most simplistic, memorable manner possible. Printing out copies of colonoscopy and histology reports can also facilitate the information being recorded in the patients’ medical charts. As use and functionality of the electronic health record evolves, it will be a more useful tool to fill the gap in patient/family understanding of this information. Looking forward, Dr. Parikh continues, he hopes there will be a national polyp database that can be accessed by licensed medical providers. This information is already being collected nationally in a de-classified non-PHI format as practices keep track of physicians’ adenoma detection rate (ADR).
Having polyp history details available will inform the best screening plans, reducing over-screening as commonly happens when a provider knows in general about a family history of polyps, but more importantly, addressing the problem of under-screening and missing those people at increased or high risk of colorectal cancer.
People at high risk of colorectal cancer due to hereditary cancer syndromes tend to develop cancer at younger ages. Polyps can be an early sign of CRC, especially pre-cancerous tubular or serrated adenomas. The updated American Cancer Society guidelines last year are increasing awareness in the public and the medical community about early onset CRC. People are getting screened earlier, leading to early detection of concerning polyps and more patient-provider conversations about cancer family history. Identifying individuals with hereditary risk changes their management significantly and reduces the number of people at risk who will be diagnosed with cancer.
ACS Guideline Summary for Clinicians. A summary of recommended screening tests and includes patient talking points about CRC screening
Targeted colorectal cancer and polyp family history tool. A tool to gather family history information.
NCCRT toolkit. A tool from The Jackson Laboratory, the National Colorectal Cancer Roundtable, and the American Cancer Society which provides help to primary care providers in implementing a structured family history collection system to identify and manage individuals at increased or high risk of CRC.
Lynch syndrome factsheet. Clinical features, diagnosis, testing and genetics of Lynch syndrome.
Familial adenomatous polyposis (FAP) factsheet. Clinical aspects of familial adenomatous polyposis and attenuated FAP.
MUTYH-associated polyposis (MAP) factsheet. Clinical features, diagnosis, testing and genetics of MAP.
Genetic Risk Assessment Cancer Education. Eleven 15-minute case-based modules, which provide free CME/CNE.
- Genetic testing for colorectal cancer risk. Practice evaluating the fit between a patient's history and a particular genetic test.
- Identifying and managing Lynch syndrome. Practice recognizing Lynch syndrome red flags, communicating about the Lynch syndrome testing process, and incorporating increased screening.