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 discusses screening for hereditary pancreatic ductal adenocarcinoma (PDAC) in individuals with genetic susceptibility, providing a comprehensive overview of genetic factors, surveillance strategies, and guidelines. Certain genetic variants increase PDAC risk, such as those associated with syndromes like BRCA1/BRCA2 mutations, Lynch syndrome, and Peutz-Jeghers syndrome. About 5-10% of PDAC patients possess pathogenic germline variants (PGVs) in cancer susceptibility genes. For individuals with a family history of PDAC, surveillance, typically starting at age 50 or earlier depending on family history, is recommended to enable early detection and improve outcomes.<br /><br />Surveillance methodologies, such as MRI/MRCP and endoscopic ultrasound (EUS), are suggested to be performed annually at high-volume centers with expertise. The "Seven W's" and "Eight W's" framework is used to outline who should be screened, when and where the screening should occur, how to execute and interpret the results, and when to seek additional help. The importance of counseling patients about the risks and benefits of surveillance is underscored.<br /><br />Dr. Rodriguez highlights that despite the benefits of early cancer detection, barriers exist at individual, provider, and system levels. These barriers include limited knowledge, cultural taboos, financial costs, and lack of systematic risk assessments. Facilitators to improve genetic testing and risk assessment include education, increased genetic care providers, telemedicine, and better coverage of services.<br /><br />Lastly, Dr. Rodriguez points out the need for scalable and equitable solutions, such as using blood-based biomarkers and circulating tumor DNA, to detect PDAC. The goal is to integrate these advancements effectively to make screening accessible outside of tertiary care centers, addressing the nuances and potential for harm associated with current surveillance methods. Through these efforts, earlier detection and intervention for high-risk individuals are expected to be more feasible and beneficial.

Keywords

hereditary pancreatic ductal adenocarcinoma

PDAC

genetic susceptibility

surveillance strategies

BRCA1/BRCA2 mutations

Lynch syndrome

Peutz-Jeghers syndrome

endoscopic ultrasound

genetic testing

circulating tumor DNA