Abstract PS9-42: Understanding genomic testing in real-world populations at outcomes4Me (GENOME)
Authors: Stroiney Amanda G , Rahma Osama E , Said Maya R 
Published: February 2021

Background: National guidelines including NCCN and ASCO clearly state the indication of genomic profiling for all patients diagnosed with advanced or metastatic breast cancer. Despite this, there remains a large gap between those guidelines and real-world practice. Increasing numbers of therapies have been approved or are under investigation for specific genomic mutations including PIK3CA, NTRK, BRCA, and most recently immunotherapy based on PD-L1 and microsatellite status. Accordingly, it is critical that advanced and metastatic breast cancer patients are offered and receive genomic testing. We explored patients’ knowledge and perception of genomic testing as well as their testing status using the Outcomes4MeTM app, a digital application that helps breast cancer patients engage in their care.

Methodology: The study was conducted virtually on the Outcomes4MeTM mobile app. Eligible patients (n=203) had stage III/IV breast cancer and resided in the United States. Participants were surveyed on their awareness of Comprehensive Genomic Profiling (CGP), if they have been tested, incentives and barriers to testing, and their willingness to talk to their doctors to learn more/initiate genomic testing. Participants were also able to access educational content on CGP through the app. Analyzed data included: tested vs not tested, cancer subtype and stage, geographic location, and time since diagnosis.

Results: Participants represented all 4 breast cancer subtypes, were well-distributed in time since diagnosis, and were located across 43 states. 105 (52%) of patients were HR+HER2-, 152 (75%) were metastatic, and 51 (25%) were stage III/advanced. Most patients (59%) were at least somewhat aware of the availability of CGP and 60% of participants were at least somewhat familiar with CGP. However, only 56 out of 203 eligible surveyed patients (28%) had been tested. Of those patients that were not tested (n=147), only 73 patients (50%) were at least somewhat aware or familiar with CGP. Further, 88% of patients that were not tested said they were interested in genomic testing and 85% said they were likely to ask their doctor about getting genomic testing, after learning about CGP.

Conclusion: Despite under-testing, many advanced and metastatic patients are interested in learning more and getting genomic testing. These results are important because they demonstrate the discrepancy between patients’ willingness to get genomic testing and the extent of genomic testing being offered to patients. They also highlight the importance of educational digital apps such as the Outcomes4MeTM app in raising awareness and providing access to CGP, which can ultimately improve outcomes. In fact, many studies have shown that ~40% of patients with HR+HER2- advanced breast cancer have a PIK3CA mutation, where now a new therapy (alpelisib) targeting this mutation is FDA approved. Additional data needs to be collected to identify barriers to genomic testing and how to overcome such barriers to decrease the gap with current guidelines.

Chart 1: Results from patient-reported surveysDimension ValueN (%)StageStage IV (Metastatic)152 (75)Stage III (Advanced)51 (25)SubtypeHR+HER2-105 (52)HR+HER2+36 (18)HR-HER2-30 (15)HR-HER2+12 (6)Unknown20 (10)Time from Diagnosis&lt;6 months46 (23)6 months - 1 year35 (17)1-2 years42 (21)2-5 years43 (21)&gt;5 years37 (18)Testing StatusHad genomic testing56 (28)Did not have genomic testing147 (72)AwarenessVery aware or somewhat aware of CGP120 (59)Not very aware or not at all aware of CGP83 (41)FamiliarityVery familiar or somewhat familiar with CGP123 (60)Not very familiar or not at all familiar with CGP80 (40)Interest in GCP (non-tested)Very interested or somewhat interested129 (88)Not very interested or not at all interested18 (12)Likeliness of talking to their Doctor (non-tested)Very likely or somewhat likely125 (85)Not very likely or not at all likely22 (15)HR+HER2- (stage III/IV)Tested34 (32)Not Tested71 (68)Interest in learning more about GCP (non-tested HR+HER2-)Very interested or somewhat interested64 (90)Not very interested or not at all interested7 (10)Likeliness to talk to their doctor about CGP (non-tested HR+HER2-)Very likely or somewhat likely60 (85)Not very likely or not at all likely11 (15)

Citation Format: Amanda G Stroiney, Osama E Rahma, Maya R Said. Understanding genomic testing in real-world populations at outcomes4Me (GENOME) [abstract]. In: Proceedings of the 2020 San Antonio Breast Cancer Virtual Symposium; 2020 Dec 8-11; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2021;81(4 Suppl):Abstract nr PS9-42.