Objective Genetic predisposition is responsible for 5–10% of breast cancer, 10% of ovarian cancer and 2–5% of uterine cancer. The study objective was to compare genetic counseling and testing referral rates among women with breast cancer that met NCCN referral guidelines to the referral rates among women with gynecologic cancers and determine predictors of referral. Methods Utilizing an institutional tumor registry database, patients from an academic women's oncology program were identified who met a subset of NCCN guidelines for genetic referral between 2004 and 2010. Patients diagnosed with ovarian cancer, breast cancer ≤50 years of age, or uterine cancer <50 years of age were included. A retrospective electronic chart review was conducted to evaluate for a genetic referral and uptake of genetic testing. Results 820 women were included (216 uterine, 314 breast, and 290 ovarian cancer). The overall genetic referral rate was 21.7%. 34% of eligible breast cancer patients were referred compared to 13.4% of uterine cancer and 14.5% ofovarian cancer patients (p < 0.0001). Younger age, breast cancer diagnosis, family history and earlier stage were all significant referral predictors. The odds of being referred increased with the number of affected family members. 70.8% of referred patients, consulted with genetics. Among those who consulted with genetics, 95.2% underwent testing. Conclusions Although increasing, genetic counseling remains underutilized across cancer diagnosis. Women with breast cancer are more likely to be referred than women with gynecologic cancers. Younger age, earlier stage and positive family history appear to be predictive of referral for genetic evaluation.

Genetic counseling and testing is being underutilized in women who meet NCCN referral guidelines. Age and family history were noted to be predictive of referral for genetic evaluation. Further research is needed to determine additional factors that may impact not only referral rates but subsequent care for women with possible genetic predispositions to cancer.

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Background/Aims: BRCA mutation carriers have a high lifetime risk of developing breast and ovarian malignancies. As genetic testing becomes widely available, preventative measures are a choice. We evaluated the characteristics of BRCA mutation carriers who chose prophylactic surgery (PS) compared to those who opted for surveillance. Methods: A retrospective chart review of patients with a mutation in the BRCA1 or BRCA2 genes was performed. Results: Ninety women were included, of whom 46 (51%) underwent PS. They were more likely to be a BRCA2 mutation carrier, parous, married, employed, and had a prior history of breast cancer. PS included 39 bilateral salpingo-oophorectomies and 13 mastectomies. Pathology was typically benign; however, 15% showed ductal carcinoma in situ of the breast, 8% reported infiltrating ductal carcinoma of the breast, 3% was adenocarcinoma of the fallopian tube, and 3% was adenocarcinoma of the ovary. Conclusion: It is notable that BRCA1 mutation carriers were less inclined to elect for PS. Evaluating the reasons for pursuing PS among women with a BRCA mutation is necessary and will require a larger data set. Long-term follow-up is required to describe the potential side effects of PS on quality of life.

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2016-11-15T19:40:59

e13612 Background: The COVID-19 outbreak in March 2020 resulted in the shift to telemedicine for many specialties including cancer genetic counseling (GC). We sought to understand the impact that converting GC services to telehealth (TH) would have on patient acceptance of recommended genetic testing, time to completion of testing, and time to follow-up GC consultation. Methods: Data analyzing GC in-patient vs. TH consultations were collected using both electronic medical record as well as a laboratory’s testing portal. Statistical analysis was performed using R statistical software. The rates of patient agreement to genetic testing and sample success, along with the time to report availability and to GC follow-up visit was compared between traditional in-person visits and TH visits during the COVID-19 pandemic. In-person visits from March -July 2019 were compared with date matched visits from March -July 2020, when all visits had been converted to TH. Patients who received an in-person consultation received a blood draw on the day of their appointment while TH patients were asked to mail a saliva sample back to the testing laboratory. Results: An analysis of a case-matched cohort between 2019 in-person new visits (n = 30) and 2020 TH new visits (n = 48) was performed. There was not a significant difference in rate of consent to suggested testing between in-person (93.3%) and TH (91.2%) (p = 0.29), though a few TH patients who consented failed to submit a sample (% tested = 93.3% vs. 85.4%, p = 0.01). TH patients had a longer time between their initial consult and when the test report was generated with average turn-around time increasing from 14.33 to 33.82 days (p < 0.1). There was no increase in time from initial consultation to follow up GC appointments (70.46 vs. 75.96 days, p = 0.74) for TH and in-person, respectively. Conclusions: Our data shows that during COVID-19, TH allowed patients to access GC with no significant differences in the length of time between initial consultation and follow up appointments. The type of GC received did not greatly influence a patient’s willingness to consent to testing, despite challenges related to the COVID-19 pandemic, indicating that TH services may be an acceptable substitute. However, TH services are not without their limitations as time between the initial appointment and receipt of test results was significantly longer and sample failure rates were higher. We postulate that the delay was due to the time it took to ship the saliva kit, have the patient collect the sample at home, and return the specimen back to the lab rather than the immediate blood draw that occurs during the in-person visit. The higher sample failure rate seen in TH is likely due to the differences between blood and saliva collections. Additional research is needed to fully understand the outcomes observed in this study in order to assist in developing the most effective strategies for cancer genetic TH services.

Objective: Financial toxicity (FT), the cumulative financial burden experienced by patients due to medical care, is a well-established phenomenon. BRCA mutation carriers have increased cancer risk, require frequent screening, and often undergo prophylactic surgery, all risk factors for FT. Our primary aim in this study was to describe rates of FT among BRCA carriers. Methods: We performed a novel, cross-sectional study of FT in patients with BRCA1/2 mutations. Patients were recruited via phone and/or email; patients who agreed to participate completed consents and surveys on RedCap. The COST tool, a validated measure, was used for assessment of FT; scores were divided into tertiles, with high FT defined as COST score ≤ 24. Results: 265 BRCA positive female patients met enrollment criteria; 76 (28.7%) had responded at time of this analysis. Respondents were primarily non-Hispanic White (97.4%), privately insured (82.9%), employed full time (67.1%) with an annual income of $50,000-$99,000 (40.8%) and a mean age of 46.4 years. Fifty-nine patients (77.6%) reported undergoing prophylactic surgery related to their BRCA status. On chart review, 26 patients (34.2% of all respondents) had a confirmed prophylactic mastectomy and 44 patients (57.9%) had a confirmed bilateral salpingo-oophorectomy, with some patients undergoing both procedures. Cost concerns were widespread among respondents; 22.7% of participants reported delaying or avoiding care secondary to finances. Fifty-eight percent of patients wanted to know about the out-of-pocket costs of treatments before receiving them, but only 7.7% reported that costs were discussed. No statistically significant association was seen amongst the high FT and low/medium FT groups re: annual income, insurance type, marital status, or race. Patients with high FT were more likely to engage in all cost-saving measures, with a striking 41.7% of patients reporting delays/avoidance of care due to cost (p=0.02). High FT patients also were more likely to borrow money (16.7%, p=0.01), use savings for care (54.2%, p=0.04), and reduce spending on both necessities (37.5%, p=0.03) and leisure activities (58.3%, p=0.01). Conclusion: This study of financial toxicity in BRCA carriers shows that many patients desire information about the costs of their care and that financial toxicity is an existing issue in this unique patient population. This work serves as the first description of FT in BRCA carriers and supports efforts to incorporate routine counseling on cost in the clinical care of these high-risk patients. Citation Format: Ellie M Proussaloglou, Alex Rosenthal, Christina Raker, Jennifer Scalia Wilbur, Katrin E Eurich, Ashley Stuckey, Katina Robison. Financial toxicity in BRCA1 and BRCA2 carriers: A pilot study [abstract]. In: Proceedings of the 2021 San Antonio Breast Cancer Symposium; 2021 Dec 7-10; San Antonio, TX. Philadelphia (PA): AACR; Cancer Res 2022;82(4 Suppl):Abstract nr P5-14-07.