Kimberly Hilfrank, MS, MPH, CGC (Chair)
Michelle Springer, MS, CGC (Vice Chair)
Megha Ranganathan, MS, CGC (2024 Chair)
Communication Committee
The Collaborative Group of the Americas on Inherited Gastrointestinal Cancer was excited to hold its 28th annual meeting in Philadelphia, PA, from November 14-16, 2024.
The meeting marked CGA-IGC’s most highly-attended conference to date, with over 500 registered individuals from 19 different countries. A record number of 32 sponsors supported the meeting. Dr. Bryson Katona, the 2024 CGA-IGC President, was thrilled to host the annual meeting in his hometown of Philadelphia. The conference provided an opportunity to celebrate the achievements of CGA-IGC over the past year under his leadership.
The meeting kicked off with a session focused on genetic counseling conundrums. Speakers highlighted common patient misconceptions regarding how genetic test results in family members can influence an individual’s own risk assessment. The session also provided practical guidance for healthcare teams supporting families through challenging circumstances, such as end-of-life care. This session was further enriched by the Lemuel Herrera Lecture, delivered later in the day by Erica Ramos, a Genetic Counselor, who spoke on the importance of diversity within the genetic counseling field. These thoughtful and insightful talks provided a meaningful way to celebrate Genetic Counselor Awareness Day, which coincided with the first day of the meeting.
CGA-IGC loves a good debate! This year, Dr. Aimee Lucas and Dr. Randall Brand presented data for and against pancreatic cancer surveillance in all patients with germline mutations in the BRCA1, BRCA2, PALB2, and ATM genes, a hot topic in the hereditary cancer world, especially given that consensus guidelines now recommend consideration of pancreatic cancer surveillance for all patients with BRCA2 and ATM mutations.
Day two of the meeting included the first of three presidential plenary sessions. Dr. Brian Brajcich kicked off the plenary by discussing trends in lifespan and causes of death among patients with familial adenomatous polyposis. Cassidy Bowden described reproductive decision-making and maternal and fetal risk in patients with germline CDH1 variants. She presented the results of a survey of 121 people under age 49 with a pathogenic CDH1 germline variant. When asked if their CDH1 diagnosis affected family planning decisions, respondents were evenly split. Of those who agreed that the diagnosis did affect their decision-making, 12% reported delaying pregnancy due to cancer screening, and 92% noted that they did not want to conceive after learning about their diagnosis. Dr. Ophir Gilad wrapped up the plenary by presenting data from the GASTRIC Consortium. Of the 279 carriers in the consortium, 45.5% met the 2020 Familial Hereditary Diffuse Gastric cancer criteria. On endoscopic biopsy, the presence of signet ring cells was positively associated with thickened folds, intestinal metaplasia, and gastritis. More aggressive disease was associated with signet ring cells on multiple biopsies. To learn more about the GASTRIC Consortium, read Dr. Gilad’s blog here.
The second day of the meeting kicked off with several lectures related to the management of Lynch syndrome. The session included another lively debate on the preferred surgical approach to treating colorectal cancer in Lynch syndrome. Dr. Carlos Vaccaro first took the stage and reviewed data supporting segmental colectomy as the preferred approach. Data to support his argument included poorer quality of life with extended colectomy, the ability of aspirin and vaccines to lower the risk for metachronous cancer, the use of immunotherapy to treat early-stage cancer, and the fact that there is no overall difference in survival. Dr. Jose Guillem then rebutted with arguments to support an extended colectomy. These included the poor salvage rates of metachronous colorectal cancer, data supporting a similar quality of life and morbidity and mortality with extended colectomy (even though bowel function is better with segmental), and the surgical and psychological risks of continued screening. So who won the debate? While three-quarters of the audience ultimately voted in favor of segmental resection, both speakers emphasized the importance of shared decision-making and individualizing the conversation with patients based on their age, gene mutation, and previous surgical history.
The Jeremy Jess Lecture was presented by Dr. Jeremy Davis, who explored the history, current controversies and future directions related to the CDH1 gene. Dr. Davis discussed how our understanding of the condition has evolved significantly over the past 25 years, and it is now accepted that occult signet ring cells are present in nearly all CDH1 mutation carriers. Additionally, these early T1a lesions are distinct and behave differently than T2-T4 cancers. Research has shown that lifetime risks are lower than previously reported, ranging from 10-40%, and surveillance appears to be a reasonable alternative to surgery. Looking at future opportunities, Dr. Davis discussed the need to reach a consensus on minimum standards for endoscopic surveillance, the role of cancer interception and early cancer detection strategies, understanding when prophylactic gastrectomy is indicated, and the importance of addressing the psychological impact and patient needs beyond cancer risk management.
The final educational segment of Friday focused on polyposis. Dr. Suzanne MacFarland addressed juvenile polyposis syndrome in individuals both with and without an identified gene mutation. Eighty percent of pediatric patients with a clinical diagnosis of juvenile polyposis syndrome do not have an identifiable mutation, and in mutation-negative disease, the polyp burden appears to decrease with age. However, this presents a limitation in that not many of these patients have been followed into adulthood. Gene-negative JPS patients are less likely to have a family history of disease and are also less likely to have upper GI polyps. This raises the question, are gene-negative JPS really at increased cancer risk as observed in gene-positive JPS cases? During the How We Do It session, a team from the Cleveland Clinic highlighted how they manage complex upper GI lesions in FAP patients.
The last day of the conference started with an informative session exploring several hot topics in hereditary GI cancers. Dr. Kirk Wangensteen discussed germline genetic associations with hepatobiliary cancers. He recommended testing be considered for all patients diagnosed with hepatoblastoma, as well as those with hepatocellular carcinoma where there is a family history, young age of onset, or another primary cancer. He also proposed universal testing for cholangiocarcinoma. Next, Dr. Kara Maxwell discussed GI cancer risks in Li-Fraumeni syndrome and recommended management. She reviewed data from a CHOP/Penn TP53 Biobank and concluded that upper GI cancers appear to be rare in LFS, but can be caught early, emphasizing the importance of screening. Rachel Hodan, genetic counselor, next explored care for transgender individuals who have a hereditary GI cancer syndrome. She emphasized the need for data, the importance of partnering with patients to ensure they feel safe and comfortable and individualizing patient care. This includes doing an upfront organ inventory, a review of past surgical history, and a discussion of planned/upcoming surgeries. The session concluded with Dr. Jennifer Wagner, JD, speaking about the nuances of state and federal laws surrounding genetic discrimination. She reviewed important considerations pertaining to these laws, how the various laws might interact, exceptions to GINA, and the loopholes that exist in individual state laws.
The meeting concluded with the Bert Vogelstein lecture, presented by Dr. Aasma Shaukat; she discussed the potential use of non-invasive colorectal cancer screening methods in patients with hereditary gastrointestinal cancer syndromes. Given the low adherence to existing colorectal cancer surveillance guidelines, blood-based tests are becoming essential. Dr. Shaukat reviewed current fecal tests and explored emerging blood-based options, noting their high sensitivity and specificity but explaining that further improvements are needed to better detect advanced adenomas.
As we look ahead to 2025, CGA-IGC welcomes Beth Dudley Yurkovich, MS, CGC, MPH, CGAF, as its incoming President. We look forward to another year of growth, educational webinars, podcasts, journal scans, and continued collaborations, and hope to see everyone again in October 2025 in St. Louis.
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