The impact of converting to telehealth for cancer genetic counseling and testing during the COVID-19 pandemic.

The COVID-19 outbreak in March 2020 resulted in a shift to telemedicine for cancer genetic counseling (GC). The objective of this study was to determine the effect of telehealth (TH) services on patient acceptance of recommended genetic testing, time to test completion, and follow-up test-disclosure GC appointment, as well as compliance with National Comprehensive Cancer Network (NCCN) recommendations for medical screenings when testing positive for a genetic variant. Data for this retrospective cohort study were collected at a tertiary-care academic health center using the electronic medical record and laboratory portal. Patients with traditional in-person visits (the 2019 control group) and date-matched TH visits (2020) were compared. In total, 206 new GC appointments occurred in the in-person group and 184 new appointments occurred in the TH group. The in-person group was more likely to consent to testing than the TH cohort (92.6% vs. 82.1%, p = 0.003) and had increased rates of sample submission (99.5% vs. 93.75%, p < 0.01), as well as a shorter turn-around time between their initial appointment and laboratory result reporting (34.24 vs. 20.32 days, p < 0.01). There was no increase in time from initial to follow-up GC appointments (67.87 days for control, 62.39 days for THs, p = 0.37). With >2.5 years of follow-up for all study participants, there were no statistically significant differences in pathogenic variant (PV) carrier compliance with screening recommendations. During the COVID-19 pandemic, use of TH allowed patients to access GC with no significant differences in time between initial consultation and follow-up. However, in-person visits were associated with increased patient willingness to consent to and complete genetic testing. This work offers a nuanced look at the success of TH GC during the pandemic and follow-up with screening recommendations, while offering future opportunities to address the acceptance of testing as GC is practiced in a virtual or hybrid model.

Financial toxicity in BRCA1 and BRCA2 carriers.

OBJECTIVE: Financial toxicity (FT), the cumulative financial burden experienced due to medical care, is a well-established adverse effect of healthcare. Patients with BRCA mutations have significantly increased cancer risks compared to non-affected individuals, requiring more frequent screenings and, at times, prophylactic surgery, increasing their risk 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 BRCA1/2 carriers. Participants were recruited via phone and/or email to complete consents and surveys on REDCap. The FACIT-COST tool, a validated tool for measuring FT, was used to assess FT; scores were divided into tertiles, with high FT defined as COST score < 24. RESULTS: 265 BRCA positive female participants met enrollment criteria; 76 (28.7%) consented to participate and completed the survey. Participants were primarily non-Hispanic White (97.4%), privately insured (82.9%), and employed full time (67.1%). A significant proportion (22.7%) of participants reported delaying or avoiding care secondary to finances. No statistically significant association was seen between financial toxicity groups and analyzed demographics. Participants with high FT were more likely to engage in all surveyed cost-saving measures, with 41.7% of participants reporting delays/avoidance of care due to cost (p = 0.02). CONCLUSIONS: This study of FT in BRCA carriers shows that financial toxicity exists as an issue in this high-risk patient population. This work serves as the first description of FT in BRCA mutation carriers and highlights the importance of incorporating routine counseling on cost when discussing recommendations for screening and clinical care with this patient population.

Choosing high-risk screening vs. surgery and the effect of treatment modality on anxiety and breast-specific sensuality in BRCA mutation carriers.

BACKGROUND: We have previously shown that breast cancer surgery affects breast specific sensuality, and that women who undergo mastectomy may have worse sexual function outcomes than those who undergo lumpectomy. It is less clear if patients who undergo prophylactic mastectomy are equally as affected as those with a cancer diagnosis. We sought to compare sexual function outcomes and their relationship to depression and anxiety between BRCA mutation carriers (mBRCA) with and without cancer in order to guide surgical counseling and improve survivorship outcomes. METHODS: A confidential, cross-sectional survey was distributed electronically to mBRCA at least 18 years of age. The survey included investigator-generated questions, the Female Sexual Function Index (FSFI), and the Hospital Anxiety and Depression Scale (HADS) surveys. Responses were analyzed in total and divided into two subgroups: those with and without breast cancer. RESULTS: Sixty-three mBRCA responded (37%) of 170 email addresses were identified, and 77% were postmenopausal. Although more than half of all mBRCA reported that the role of the breast in intimacy was important, most patients without cancer and all of those with cancer experienced an impressive decline in certain breast-specific sensuality parameters postoperatively. Among those without cancer, anxiety scores were not different between those choosing prophylactic mastectomy and high-risk screening (HRS). Sexual function as measured by the FSFI was negatively correlated with depression and anxiety in mBRCA. FSFI scores were not significantly different between those with and without cancer. However, the median FSFI of mBRCA with cancer, those undergoing HRS, and those who underwent prophylactic mastectomy indicated sexual dysfunction. CONCLUSIONS: As the availability of genetic testing increases, more women are found to harbor BRCA mutations and must choose between HRS and prophylactic surgery. Women with BRCA mutations, both with and without breast cancer, are susceptible to derangements in sexual function during the course of both screening or treatment, and this appears to be negatively correlated to depression and anxiety.

Adherence patterns to National Comprehensive Cancer Network (NCCN) guidelines for referral to cancer genetic professionals.

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 ≤50years of age, or uterine cancer <50years 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% of ovarian 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.

Preoperative genetic testing affects surgical decision making in breast cancer patients.

OBJECTIVES: Our aim was to determine if BRCA mutation status changes surgical decision making in women who undergo genetic testing after the diagnosis of breast cancer. METHODS: This is a retrospective cohort study of breast cancer patients who had BRCA mutation testing performed prior to surgery. We compared surgical choice and change in surgical choice in women who tested positive for a BRCA mutation with those who tested negative. Surgery was considered the most definitive surgery within a year of diagnosis. Other data collected included age, race, stage, histology, receptor status, adjuvant treatment, gravity, parity, and family history. Variables were compared by BRCA status using Fisher's exact test and logistic regression. RESULTS: Three hundred and two women were included. Thirty-two (10.6%) were identified as carrying a BRCA mutation. Most women had early stage disease (55.6% T1 lesions, 72.8% node negative); 55.6% had breast-conserving surgery, and the remaining had unilateral or bilateral mastectomy. BRCA mutation carriers were more likely to have both a personal history of breast cancer (RR 2.74, 95% CI=1.08-6.98) and hormone receptor-negative tumors (56.0% vs. 26.2%, p=0.002). BRCA mutation carriers were more likely to choose bilateral mastectomy with reconstruction (56.3% vs. 15.9%, p<0.0001); 71.9% of BRCA mutation carriers opted for a different surgery than what was initially planned by their surgeon as compared to 29% of mutation-negative patients (p<0.0001). CONCLUSIONS: BRCA mutation testing strongly influences surgical decision making in newly diagnosed breast cancer patients. For women who meet NCCN referral guidelines, genetic evaluation should be performed prior to surgical intervention.