Evaluation of telephone genetic counselling to facilitate germline BRCA1/2 testing in women with high-grade serous ovarian cancer

Abstract

Systemic healthcare issues and geographical challenges restrict women's access to BRCA1/2 testing to inform the use of tailored treatments for high-grade serous ovarian cancer. Consequently, BRCA1/2 testing in this population is low and improved testing pathways are urgently needed. This study aimed to determine the acceptability and feasibility of telephone genetic counselling (TGC) to facilitate treatment-focused BRCA1/2 testing in Australia for women with high-grade serous ovarian cancer. Women who received TGC were invited to complete a survey examining their experiences of the service. A cost analysis was conducted to compare the service to standard, in-person genetic counselling. One hundred and seven women responded (48% response rate); 8 had a BRCA1/2 variant affecting function. Geographical barriers prevented women from accessing genetic services in the past. All participants had a positive attitude towards testing, and regret following testing was minimal. While the impact of testing was greater for those with a positive test result, overall, genetic testing did not put the additional psychosocial burden on the participants. Participant's evaluations of the telephone interactions with the genetic counsellors were highly satisfactory. The service was also found to be cost-effective. This model of telephone genetic counselling was an acceptable and effective way to reduce barriers to BRCA1/2 testing for women with ovarian cancer.

Online BRCA1/2 screening in the Australian Jewish community: a qualitative study

“…This model of clinical BRCA1/2 JFM screening is aligned with the shift away from the traditional in-person counselling model and towards telehealth genetic services (Zierhut et al 2018) to increase accessibility of genetic counselling and testing (Rayes et al 2019). In a recent study evaluating telephone genetic counselling services in women affected with highgrade serous ovarian cancer, both BRCA1/2 carriers and noncarriers reported accepting, satisfactory attitudes and minimal regret towards testing (Tutty et al 2019), which are largely consistent with the positive responses of our cohort. It was also noted that carriers were not observed to carry additional psychosocial burden as compared to noncarriers.…”

Health system interventions to integrate genetic testing in routine oncology services: A systematic review

“…of included studies (44%) were from North America [34-39, 41, 44-47, 54] (Table 2). The 25 studies [29][30][31][32][33][34][35][36][37][38][39][40][41][42][43][44][45][46][47][48][51][52][53][54][55] (93%) described interventions to increase access to GC and GT through mainstreaming or UTS initiatives (S4 Table ). The study designs found were retrospective or prospective cohort studies with concurrent or historical controls (44%) [34, 36, 37, 42-47, 54, 55] or case series that reported on intervention outcomes (56%) [29-33, 35, 38-41, 48, 51-53] (Table 2).…”

“…Quality assessment. Fifty-six percent of the studies (n = 14) received a poor AHRQ rating due to the study design-case series with no comparator [29-33, 35, 38-41, 48, 51-53], selection bias in the use of a single site health system [29,30,39,40,47,48] and/or no statistical adjustment for patient population differences or assessment of confounders [30,42,47] (S5 and S6 Tables). Thirty-six percent of the studies received a fair to good AHRQ rating (n = 9) and were cohort studies with a historical or concurrent comparator [34, 36, 37, 44-47, 54, 55].…”

“…The cost impact of an implementation effort [21] • implementation cost of intervention or cost savings [29,31,40,48] 4/25 (16%)…”

Patients’ and professionals’ perspective of non-in-person visits in hereditary cancer: predictors and impact of the COVID-19 pandemic

“…On one hand, mainstreaming genetic testing has been evaluated as part of the medical oncology visits, [1][2][3] while the feasibility of nonin-person visits has been tested to ease and expand access to cancer genetic counseling services. [4][5][6][7][8] Since the COVID-19 outbreak, telephone contact with patients has been universally used by health-care professionals to maintain a partial continuity with them. Scientific oncology societies have recommended avoiding in-person visits during the lockdown and encourage the use of telemedicine especially for stable patients and those with oral therapies.…”