One of the main challenges in cancer genetics is responding to the exponential demand for genetic counseling, especially in patients with breast and/or ovarian cancer. To address this demand, we have set up a new procedure, based on pre-genetic counseling telephone interviews (PTI) followed by routing of patients: D1, a PTI is scheduled within 14 days; D7–D14, genetic counselors perform a 20 min PTI in order to establish a pre-genetic counseling file, by collecting personal and family medical history via a structured questionnaire and; D10–17, routing: pre-genetic counseling appointment files are analyzed by a cancer geneticist with 3 possible conclusions: (a) priority face-to-face genetic counseling (FTFGC) appointment with a cancer geneticist, if the genetic test results have an immediate therapeutic impact; (b) non-priority FTFGC with a genetic counselor, or (c) no FTFGC required or substitution by a more appropriate index case. In the context of breast and/or ovarian cancer, 1012 patients received PTIs, 39.1% of which did not lead to FTFGC. The mean delay for non-priority FTFGC was maintained at 18 weeks and priority FTFGC appointments were guaranteed within 8 weeks. The required resources for 1012 patients was estimated at 0.12 FTE secretaries, 0.62 FTE genetic counselors and 0.08 FTE cancer geneticists and the procedure was shown to be cost-effective. This new procedure allows the suppression of up to 1/3 of appointments, guarantees priority for appointments with therapeutic impact and optimizes the interaction and breakdown of tasks between genetic counselors and cancer geneticists.
Genetic counseling Genetic counselors Telephone interviews Routing Breast cancer Ovarian cancer
This is a preview of subscription content, log in to check access.
The authors are grateful to Nikki Sabourin-Gibbs for critical review of the manuscript and to the French National Cancer Institute (INCa) for support.
No specific funding has been received for this project.
Compliance with ethical standards
Conflict of interest
The authors declare that they have no conflict of interest.
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards.
Research involving human and animal participants
This article does not contain any studies with animals performed by any of the authors.
Informed consent was obtained from all individual participants included in the study.
Müller D, Danner M, Rhiem K, Stollenwerk B, Engel C, Rasche L et al (2017) Cost-effectiveness of different strategies to prevent breast and ovarian cancer in German women with a BRCA 1 or 2 mutation. Eur J Health Econ. doi:10.1007/s1019801708875PubMedGoogle Scholar
Nelson HD, Pappas M, Zakher B, Mitchell JP, Okinaka-Hu L, Fu R (2014) Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: a systematic review to update the U.S. Preventive Services Task Force recommendation. Ann Intern Med 160(4):255–266CrossRefPubMedGoogle Scholar
Cobain EF, Milliron KJ, Merajver SD (2016) Updates on breast cancer genetics: clinical implications of detecting syndromes of inherited increased susceptibility to breast cancer. Semin Oncol 43(5):528–535CrossRefPubMedGoogle Scholar
Madorsky-Feldman D, Sklair-Levy M, Perri T, Laitman Y, Paluch-Shimon S, Schmutzler R et al (2016) An international survey of surveillance schemes for unaffected BRCA1 and BRCA2 mutation carriers. Breast Cancer Res Treat 157(2):319–327CrossRefPubMedPubMedCentralGoogle Scholar
Valachis A, Nearchou AD, Lind P (2014) Surgical management of breast cancer in BRCA-mutation carriers: a systematic review and meta-analysis. Breast Cancer Res Treat 144(3):443–455CrossRefPubMedGoogle Scholar
Bednar EM, Oakley HD, Sun CC, Burke CC, Munsell MF, Westin SN, Lu KH (2017) A universal genetic testing initiative for patients with high-grade, non-mucinous epithelial ovarian cancer and the implications for cancer treatment. Gynecol Oncol. doi:10.1016/jygyno201705037PubMedGoogle Scholar
Shugar AL, Quercia N, Trevors C, Rabideau MM, Ahmed S (2017) Risk for patient harm in Canadian genetic counseling practice: it’s time to consider regulation. J Genet Couns 26(1):93–104CrossRefPubMedGoogle Scholar
Cicero G, De Luca R, Dorangricchia P, Lo Coco G, Guarnaccia C, Fanale D et al (2017) Risk perception and psychological distress in genetic counselling for hereditary breast and/or ovarian cancer. J Genet Couns. doi:10.1007/s1089701700720PubMedGoogle Scholar
Lumish HS, Steinfeld H, Koval C, Russo D, Levinson E, Wynn J et al (2017) Impact of panel gene testing for hereditary breast and ovarian cancer on patients. J Genet Couns. doi:10.1007/s108970170090yGoogle Scholar
Schwartz MD, Valdimarsdottir HB, Peshkin BN, Mandelblatt J, Nusbaum R, Huang AT et al (2014) Randomized noninferiority trial of telephone versus in-person genetic counseling for hereditary breast and ovarian cancer. J Clin Oncol 32(7):618–626CrossRefPubMedPubMedCentralGoogle Scholar
Sie AS, van Zelst-Stams WA, Spruijt L, Mensenkamp AR, Ligtenberg MJ, Brunner HG et al (2014) More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Fam Cancer 13(2):143–151PubMedGoogle Scholar
Kinney AY, Steffen LE, Brumbach BH, Kohlmann W, Du R, Lee JH et al (2016) Randomized noninferiority trial of telephone delivery of BRCA1/2 genetic counseling compared with in-person counseling: 1-year follow-up. J Clin Oncol 34(24):2914–2924CrossRefPubMedPubMedCentralGoogle Scholar
Høberg-Vetti H, Bjorvatn C, Fiane BE, Aas T, Woie K, Espelid H et al (2016) BRCA1/2 testing in newly diagnosed breast and ovarian cancer patients without prior genetic counselling: the DNA-BONus study. Eur J Hum Genet 24(6):881–888CrossRefPubMedGoogle Scholar
Sie AS, Spruijt L, van Zelst-Stams WA, Mensenkamp AR, Ligtenberg MJ, Brunner HG et al (2016) High satisfaction and low distress in breast cancer patients one year after BRCA-mutation testing without prior face-to-face genetic counseling. J Genet Couns 25(3):504–514CrossRefPubMedGoogle Scholar
Augestad MT, Høberg-Vetti H, Bjorvatn C, Sekse RJ (2017) Identifying needs: a qualitative study of women’s experiences regarding rapid genetic testing for hereditary breast and ovarian cancer in the DNA BONus Study. J Genet Couns 26(1):182–189CrossRefPubMedGoogle Scholar