Abstract PO5-08-08: Tumor Registry Guided Genetic Testing: Opportunities Unlocked
Authors: Hughes Kevin , Finianos Antoine , Meeder Kiersten 
Published: May 2024

Introduction With the expansion of guidelines for germline genetic testing, more patients are eligible for testing. Unfortunately, many remain untested. Testing is critical, as patients with pathogenic variants (and their families) can benefit from more aggressive screening and preventative strategies, as well as targeted therapies (e.g., poly (adenosine diphosphate-ribose) polymerase (PARP) inhibitors) if cancer does occur. Objectives To study the prevalence of Hereditary Breast Ovarian Cancer (HBOC) genetic testing eligibility and uptake among cancer patients from the tumor registry at the Medical University of South Carolina (MUSC) in order to identify a group of living patients who require testing now. Methods This Quality Improvement study included patients 18 years of age or older diagnosed with breast, ovarian/fallopian/primary peritoneal, pancreas and prostate cancers between 1991 and 2021 as reported to the MUSC Tumor Registry. Each patient was evaluated using the latest National Comprehensive Cancer Network (NCCN) criteria for breast-ovarian genetic testing (Excluding family history criteria, which were not available in the tumor registry). Using our genetic testing database, we also determined which had had testing. We describe the prevalence of genetic testing performed vs the number of patients that would benefit from testing under the newest guidelines. Results Patients identified as eligible for testing included 399 breast cancer patients, all 544 ovarian/fallopian/primary peritoneal cancer patients, all 1534 pancreas cancer patients and 872 prostate cancer patients. Reported testing of eligible patients was low (breast: 35%, Ovarian: 33%, pancreas: 4%, and prostate cancer: 6%). Of eligible patients not tested, 310 patients with breast cancer, 343 patients with ovarian/fallopian/primary peritoneal cancer, 717 patients with pancreas cancer and 763 patients with prostate cancer, are alive and eligible for testing (2133 patients) Discussion Using Tumor Registry data plus genetic testing data allowed us to detect a large number of living patients with cancer that would be eligible for HBOC genetic testing. This is despite the fact that this approach underestimates the number of patients that would benefit from further testing as it does not include family history and other factors. A similar approach for colorectal or other cancers will yield additional patients. Conclusion Most cancer patients eligible for breast ovarian genetic testing have not been tested. There is an opportunity to use Tumor Registry and genetic testing data to identify a large number of living patients who can be approached for testing. As we showed in our study, by adopting updated cancer genetic testing guidelines, there is increased opportunity to detect more patients that would benefit from such testing. In our study this benefit is shown especially in the prostate and pancreas cancer groups. Next steps will be to determine how best to notify and make testing available to these patients.

Table 1. Testing Status Comparison Assessing Genetic Testing Rates Using Tumor Registry Among Eligible Patients with Breast, Ovarian/Fallopian/Primary Peritoneum, Pancreas and Prostate cancer as per the New Testing Guidelines

Citation Format: Kevin Hughes, Antoine Finianos, Kiersten Meeder. Tumor Registry Guided Genetic Testing: Opportunities Unlocked [abstract]. In: Proceedings of the 2023 San Antonio Breast Cancer Symposium; 2023 Dec 5-9; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2024;84(9 Suppl):Abstract nr PO5-08-08.