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.

Fig. 1

Flowchart of women participating in the study. No variant detected = Neg, BRCA1/2 variant affecting function = Pos, Variant of uncertain significance = VUS. ¹Telephone disconnected, email undeliverable and/or survey package returned to sender. ²n = 9 had a child participate in TGC on their behalf and n = 4 required an interpreter. ³Upon follow up via telephone, n = 11 expressed an interest in the study but had yet to respond, including n = 2 positive women who explained they were too busy at the time. ⁴n = 3 stated that they could not remember their result, but were confirmed to have a negative result in the database. ⁵n = 10 were inpatients at the time of follow up (including n = 1 pos), n = 8 believed they had not received telephone genetic counselling

Fig. 2

Preferred health professional to facilitate BRCA1/2 testing. * Genetic counsellor ** General practitioner. ^a8 women had no preference, 6 women were unsure how to answer this question and 3 missing responses. ^b14 women had no preference, 3 women were unsure how to answer this question and 3 missing responses