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

Eur J Hum Genet. 2019 Aug;27(8):1186-1196. doi: 10.1038/s41431-019-0390-9. Epub 2019 Apr 8.


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.

Publication types

  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Aged, 80 and over
  • BRCA1 Protein / genetics*
  • BRCA2 Protein / genetics*
  • Cost-Benefit Analysis
  • Cystadenocarcinoma, Serous / diagnosis
  • Cystadenocarcinoma, Serous / genetics*
  • Female
  • Genetic Counseling / economics
  • Genetic Counseling / methods*
  • Genetic Counseling / psychology
  • Genetic Testing / methods*
  • Germ-Line Mutation
  • Humans
  • Middle Aged
  • Ovarian Neoplasms / diagnosis
  • Ovarian Neoplasms / genetics*
  • Patient Acceptance of Health Care / statistics & numerical data
  • Reproducibility of Results
  • Telephone


  • BRCA1 Protein
  • BRCA2 Protein