ASGE Postgraduate Course at ACG: Innovative Practices for the Endoscopist of Today, Tomorrow and Beyond | October 2023-3_Rodriguez Cancer Focus

3_Rodriguez Cancer Focus_Genetic Susceptibility

Pdf Summary

Dr. Nicolette Juliana Rodriguez's presentation on screening for pancreatic cancer in individuals with genetic susceptibility highlights the importance of early detection and the specific protocols for surveillance. The document emphasizes that hereditary pancreatic ductal adenocarcinoma (PDAC) patients often have a family history of the disease or possess a pathogenic germline variant (PGV) in cancer susceptibility genes, yet many PGV carriers may lack a classic family history.<br /><br />Screening guidelines such as those from the NCCN advise detailed assessment and early surveillance for high-risk individuals. The Seven “W’s” of PDAC Surveillance—who to screen, when to screen, where to screen, how to screen, why screen, how to interpret results, and when to call for help—provide a comprehensive framework for managing surveillance. Individuals with certain genetic syndromes, such as Lynch syndrome, BRCA mutations, and Peutz-Jeghers syndrome, have elevated PDAC risks and require different starting ages for screening depending on their genetic background.<br /><br />The presentation underscores that PDAC surveillance should ideally be conducted in high-volume centers with expertise, utilizing tools like MRI/MRCP and EUS, to balance annual surveillance while considering shorter intervals when necessary. Surveillance improves early detection and outcomes, with data showing that patients under surveillance have higher five-year survival rates if cancer is detected early.<br /><br />Cascade genetic testing is critical, as it involves engaging at-risk family members to undergo their own genetic counseling and testing, potentially benefiting from early cancer prevention strategies. However, uptake rates are low, compounded by various barriers at individual, provider, and system levels such as cost, limited access, cultural taboos, and knowledge gaps.<br /><br />The document advocates for increased education, diversifying genetics care providers, and utilizing telemedicine to enhance accessibility. It also acknowledges the need for novel approaches like blood-based biomarkers and circulating tumor DNA to advance PDAC detection and surveillance.<br /><br />In conclusion, routine screening and strategic early interventions are instrumental in improving prognosis and survival for individuals with genetic susceptibility to pancreatic cancer, provided the barriers to genetic testing and care are effectively addressed.

Keywords

pancreatic cancer

genetic susceptibility

early detection

surveillance protocols

hereditary PDAC

NCCN guidelines

genetic syndromes

cascade genetic testing

MRI/MRCP

blood-based biomarkers