BPI22-012: How Long Will They Wait? Applying Updated NCCN Criteria to Previously Unqualified Patients Reveals Missed Opportunities for Personalized Cancer Risk Management

Authors: Kelly Bontempo MS, CGC1, Chloe Wernecke BS1, Brenna Bentley MS, CGC1, Krista Ortega BS1, Jessica Kreamer BS, MS1, Rakesh Patel MD2, and Peter Beitsch MD3
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  • 1 Medneon, Cupertino, CA
  • | 2 Good Samaritan Hospital, Los Gatos, CA
  • | 3 Dallas Surgical, Dallas, TX

Background: Uncovering germline genetic variants responsible for cancer predisposition allows providers to implement personalized medical care for patients. While guidelines continue to evolve as more robust data becomes available, patients who do not meet guidelines at the time of assessment may not be identified as having a predisposition syndrome. This can have significant implications for personal cancer management and the ability to capture unaffected relatives to potentially prevent cancer altogether. Here, we evaluate how updated version guidelines, which expand patient eligibility, capture patients that were previously missed using the prior guideline over a 7-month, 20-day period. Methods: Patient data was obtained from the Informed Genetics Annotated Patient Registry, an IRB-approved, patient-consented, multi-center longitudinal study designed to capture genetic and genomic test results and their utilization and impact on treatment practices and outcomes. 1439 subjects were assessed using the NCCN BOP 2.2021 guidelines and underwent germline genetic testing. These subjects were then reassessed using the updated 1.2022 BOP guidelines. Descriptive statistics were used to assess and compare data of these populations. Results: An additional 71 subjects were identified as meeting criteria for genetic testing following reassessment, of which 19.71% had at least one P/LP variant in the germline. Variants were identified in the following genes: ATM, BAP1, BRCA2, CHEK2, MSH3, MUTYH, NBN, PALB2 and 2 others. All identified genes have implications for medical management and/or reproduction. Conclusion: Expanding NCCN qualifying criteria allows for the identification of patients with clinically actionable genetic variants. In this cohort alone, nearly 20% of subjects had a clinically actionable variant that would have been missed due to a failure to offer germline testing using the prior guideline version. Providers and payors using these guidelines as gold standard to offer and cover testing, rather than other available guidelines or clinical intuition, miss an opportunity for personalized cancer risk management. This may affect both treatment and prevention strategies. As NCCN qualifies all patients with ovarian cancer, pancreatic cancer, and certain neuroendocrine/adrenal tumors, this study begs the question, how long will we wait before genetic testing is offered to all patients with cancer?

Corresponding Author: Chloe Wernecke, BS
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