Abstract P5-08-03: Creation of a high volume, proactive high-risk breast cancer prevention program
Authors: Luiten Rebecca C , Loving Vilert A , Siettmann Jennifer , Reyes Beverly , Mina Lida A 
Published: March 2020

Introduction: Approximately one out of eight women get breast cancer in their lifetime, and the National Cancer Institute estimates 268,600 new diagnoses in 2019. About 5-10% of breast cancers can be attributed to a genetic predisposition. Identifying women with genetic predispositions is significant because they qualify for more intense breast cancer screening or risk reducing strategies. Unfortunately, genetic testing is often not offered until cancer is diagnosed. This traditional genetic testing model is reactive rather than proactive, and it fails to identify a large proportion of unaffected genetic mutation carriers in the United States.

Purpose: Our goal was to create a proactive system for identifying women at high risk for breast cancer. We integrated an online family history software, Progeny, into our mammography center to screen unaffected women for high-risk status (Tyrer-Cuzick (TC) score ≥ 20%) and National Comprehensive Cancer Network (NCCN) genetic testing criteria.

Methods: Patients undergoing breast imaging were given a computer tablet with a preprogrammed Progeny questionnaire. Progeny collects the patient’s gynecological and family history, calculates a TC risk score, and assesses NCCN genetic testing criteria. Progeny was integrated into the mammography center on 1/10/2019 and this preliminary data was collected through 6/6/2019. Summary statistics were tabulated.

Results: A total of 3,129 patients were invited to complete the questionnaire. 2,474 (79.1%) completed the questionnaire and 540 (21.8%) met NCCN genetic testing criteria. The average age of those meeting NCCN criteria was 60.3 years (range: 21-94). Of the patients who completed the questionnaire, 148 (6.0%) patients were found to be high-risk due to a TC score ≥20%.

Clinical Impact: We found 540 patients who qualified for genetic counseling/testing. Under the previous, reactive genetic testing model, most of these patients would not have been selected for testing unless they received a cancer diagnosis. We recommended pretest genetic counseling to all these high-risk patients. Typical oncology genetic counselors see 10.2 new patients a week and our clinic can see 15 new patients per week. It would take 36 weeks with our current clinic system for all the patients identified during the initial questionnaire trial period to see a genetic counselor for pretest counseling. This demand alone would require two full time genetic counselors to accommodate.

Conclusion: Our initial experience integrating a genetic screening questionnaire into our mammography center shows that 22% of patients need genetic testing and 6% need follow-up in a high-risk breast cancer clinic. Given current staffing constraints, it would take about 9 months to genetic test and counsel the patients identified after just 6 months of screening. This estimate does not include the demand placed on genetic counselors from current referral sources, so actual wait times could be longer than 9 months. This long wait time could increase anxiety for patients and dissatisfaction for patients and providers. A new approach to offering genetic testing and counseling to these patients is needed.

Future Directions: In response to this increased clinical demand, we are partnering with Progeny and Ambry Genetics to create a novel program that allows patients to receive preliminary genetic education by video and genetic testing the same day as their mammogram appointment. Ultimately, the hope is that this new, high volume, proactive high-risk prevention program will allow a larger proportion of women with a genetic predisposition to receive diagnoses of their mutations and to initiate risk reducing and life-saving treatments. With this partnership, we will better accommodate the increased patient demand for genetic testing and avoid long wait times for counseling.

Citation Format: Rebecca C Luiten, Vilert A Loving, Jennifer Siettmann, Beverly Reyes, Lida A Mina. Creation of a high volume, proactive high-risk breast cancer prevention program [abstract]. In: Proceedings of the 2019 San Antonio Breast Cancer Symposium; 2019 Dec 10-14; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2020;80(4 Suppl):Abstract nr P5-08-03.