Universal Genetic Testing for Pancreatic Cancer: Closing the Gap on a Missed Opportunity.

Abstract

Approximately 10%-15% of pancreatic ductal adenocarcinomas (PDACs) are caused by pathogenic germline variants (PGVs). Universal genetic testing (UGT) for PDAC, regardless of family history, was first recommended in 2018. Successful PDAC UGT implementation is crucial for targeted treatment and familial risk assessment. However, clinical of UGT introduction presents unique challenges for patients with PDAC with poor health and life expectancy. Data are available regarding UGT uptake in PDAC via different genetics service delivery models. However, most studies were conducted before the PDAC UGT recommendation and COVID-19 pandemic, which led to increased telemedicine utilization. Multiple genetic counseling (GC) and testing options are now available, including traditional, embedded, or group GC and point-of-care testing (POCT). Thus, oncology providers need a comprehensive resource regarding effective PDAC UGT integration into clinical practice. Therefore, we applied a narrative review approach to summarize 17 publications from January 2020 to February 2025 on various genetics models in PDAC UGT, focused on test uptake. The most commonly used model was POCT (58.8%). The overall uptake rates were lowest with traditional GC alone (6.0%-21.9%), and highest with embedded GCs ± POCT (66.8%-78.4%) or POCT alone (22.1%-93.2%). Additional observed PDAC POCT benefits included decreased attrition rates, fewer patients deceased pre-result, quicker test turnaround times, and conservation of limited GC resources. Notably, genetic counselors played an important role in POCT via development of patient-facing informational materials, physician education, post-test result disclosure, and identification of relatives eligible for cascade testing and/or high-risk screening. Overall, current data indicate that oncologist-coordinated POCT plus genetics-facilitated education efforts and result disclosure may be the best method to optimize PDAC UGT uptake. Further research is needed regarding automated referral systems and/or telemedicine options.