• CGA-IGC

CGA 2022 – Back in Person, and Making Strides in Understanding Inherited GI Cancers!

Michelle Springer, MS, CGC

CGA-IGC Communications Committee

The Collaborative Group of the Americas – Inherited Gastrointestinal Cancer (CGA-IGC) was thrilled to hold its first in-person conference since 2019 in Nashville, TN, from November 11-13, under the leadership of 2022 CGA-IGC President, Dr. Swati Patel, a gastroenterologist at University of Colorado.



We pride ourselves on attracting experts from various specialties, including genetic counselors, gastroenterologists, surgeons, oncologists, researchers, and advanced practice providers. Our goal is simple – to improve our understanding and clinical management of inherited gastrointestinal cancers. We focus on the importance of building collaborative partnerships, mentoring, advocacy, increasing diversity, equity, and inclusion in hereditary GI research, and education of our members, other healthcare providers, and patients. We are committed to these issues year-round, and especially at our annual conference. This year represented the 26th annual conference for CGA, attracting over 300 members from 22 different countries.



The meeting kicked off with the Bert Vogelstein Lectureship given by Dr. Fergus Couch who discussed moderate penetrance genes and cancer risk. This was followed by a series of talks related to the CHEK2 gene, its epidemiology and penetrance, and surveillance of CHEK2-related cancers.




In addition to the previously known CHEK2-related cancer risks, including breast, colon, prostate, and thyroid, Dr. Alicia Latham presented data from their MSK-Impact study on CHEK2 mutations and a possible link to gastric and pancreatic cancers. Hematologic malignancies and kidney/bladder may also be part of the CHEK2 cancer spectrum. A resounding theme is emerging from studies looking at moderate risk genes: data is still evolving and screening may be influenced by a patient’s specific genetic mutation and family history. As we start to better understand how different genetic variants may confer different levels of cancer risk, a more tailored approach to screening may be appropriate. Conclusions from the sessions? We still have so much to learn regarding moderate penetrance genes and more population-based control studies are needed, as well as studies looking at cancer risk across diverse ethnic groups.




Annual CGA conferences serve as a forum for presenting new research that often challenges current practices and guidelines. This year, such a challenge came with a key talk by Dr. Bryson Katona from University of Pennsylvania. Dr. Katona’s presentation coincided with the publication of his team’s manuscript, led by Dr. Sarah Coughlin, as part of a new partnership between CGA-IGC and Journal of Clinical Oncology-Precision Oncology to showcase cutting edge research via simultaneous publication with oral plenary presentations. While there has been debate and controversy regarding offering germline genetic testing to all individuals with colorectal cancer, Dr. Katona presented data on the yield of pathogenic variants from multigene panel testing from a diverse colorectal cancer population of over 34,000 patients. His team found that 14% of all patients tested positive for a pathogenic variant in a hereditary cancer gene. Notably, clinically actionable variants were identified in 11.9% of patients with colorectal cancer; 9.1% of the variants were in a gene associated with colorectal cancer/polyposis risk and 3.1% were found in a non-colorectal cancer gene. This is the largest study to date examining the use of multigene panel testing in a diverse colorectal cancer population and provides support for broadening the eligibility of testing criteria. Click here for a short video of Dr. Katona summarizing his talk. Take home point: universal genetic testing for colorectal cancer is likely right around the corner!




The second day of the CGA meeting was filled with some thought-provoking presentations related to reproductive considerations for individuals with inherited cancer syndromes, as well as exploring novel approaches to expanding genomic services. Andria Besser, Genetic Counselor and Director of Reproductive Genetics at NYU Langone Fertility Center discussed the use of preimplantation genetic testing (PGT) for individuals who carry hereditary cancer mutations and stressed the importance of providing patients with information regarding this option. Backed by the American Society of Reproductive Medicine, the use of PGD for single-gene disorders has increased significantly in recent years. Challenges that remain include the potential financial burden as well as technical considerations with the custom assay that is used. Dr. Sukhkamal Campbell, an obstetrician-gynecologist at the University of Alabama at Birmingham, discussed fertility preservation options for patients with hereditary cancer syndromes, emphasizing that all major organizations, including the American Society of Clinical Oncology, American Society of Reproductive Medicine, European Society of Human Reproduction and Embryology, and the European Society of Medical Oncology, recommend fertility preservation counseling. Takeaway? Treatment and care of our patients must include counseling on reproductive considerations and fertility preservation.



The need for genetic testing in patients and their family members is outpacing the number of available genetic counselors. As a result, organizations continue to explore alternative approaches to accessing genetic testing. Several speakers explored some creative and alternative methods to increasing access to genetic services, including the use of advanced practice providers, online genetic education, chatbots, and telephone visits. Dr. Anita Gregory and her team from St. Joseph Hospital Center for Cancer Prevention and Treatment presented data on a novel approach to genetic testing: a walk-in clinic staffed by genetic counseling assistants for patients with a cancer diagnosis. This streamlined approach is an intriguing delivery method that offers same day genetic testing to its patients. As the criteria for genetic testing continue to expand, so must our delivery approaches and the accessibility to testing.