The use of telemedicine genetic counseling in an effective public health program to identify women at increased risk for breast cancer.
461 Background: A genetic counseling service was set up across 27 primary care physician (PCP) offices in Virginia in 2024 aimed to identify women, ages 30-39, at increased risk for breast cancer leveraging the MyChart portal in EPIC. The design focused on comprehensive patient care with pre- and post-test genetic counseling (GC) and genetic testing (GT) conducted over telemedicine (TM). We report on the first full year of completed work. Methods: Current National Comprehensive Cancer Network (NCCN) guidelines for both personal and family history for Hereditary Breast and Ovarian Cancer (HBOC) were condensed into a 3-question survey using GC expertise. Established patients in EPIC completed this survey via their MyChart portal a week ahead of their birthday and were called to set up a GC appointment if deemed high risk. During the TM visit, GCs conducted a second level of risk assessment, placed genetic test orders, offered empathetic result disclosure discussions, and accurately referred mutation positive patients for high risk screenings. Results: 15,859 established patients were sent the survey over a 14-month period with a 23% completion rate (3,659 patients). 1,593 (43.5%) reported no personal or family history of cancer. 2,066 (56.4%) were at high risk based on survey responses, of which 1220 (59%) scheduled GC appointments. 924 (75.6%) completed the TM appointments with 254 (20.8%) no shows and 42 (3.4%) cancellations. 629 (68%) meet NCCN guidelines per GC evaluation and 542 (86%) went forward with requesting saliva kits for genetic testing. 201 (37%) completed testing resulting in 102 negative, 76 variant of uncertain significance (VUS), and 16 positive mutation carriers identified. Conclusions: GC expert insights helped improve the sensitivity of the survey and therefore the efficacy of this public health intervention. Leveraging the MyChart portal, ongoing patient engagement was maintained with GCs, which resulted in a high GT uptake and low no-show rates. This unique program ascertains appropriate screening for mutation positive patients and high-risk patients based on family history. Metric Percentage Number of Patients Surveys Sent Out 15,859 Survey Completed 23% 3.659 Not High risk per survey 43.6% 1,593 High Risk per survey 56.4% 2,066 Patients contacted by phone 2,066 Scheduled TM GC appts 59% 1,220 Completed TM GC appts 75.6% 924 No-shows 20.8% 254 Cancellations 3.4% 42 Risk Assessment by GC* 924 Not High Risk per NCCN** 32% 295 High Risk per NCCN 68% 629 Genetic Test Ordered 86% 542 Genetic Test Completed 37% 201 Result Negative 50.7% 102 Result VUS** 38% 76 Result Positive 8% 16 *GC = Genetic Counselor; **NCCN = National Comprehensive Cancer Network guidelines; ***VUS = Variant of Uncertain Significance.
Authors
- Smita K. Rao (ORCID: https://orcid.org/0000-0002-6906-741X)
- C. R. Frazier
- Emma Malone
- Yasmine Namane
Institutions
- Genex Systems (United States) (US)
- Riverside Regional Medical Center (US)
Publication Details
- Journal
- JCO Oncology Practice
- Published
- 2025-10-01
- DOI
- https://doi.org/10.1200/op.2025.21.10_suppl.461
- Primary Topic
- BRCA gene mutations in cancer
- Type
- article
- Field-Weighted Citation Impact
- 0.00