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More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling

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Abstract

Currently, most breast cancer (BC) patients receive face-to-face genetic counseling (DNA-intake) prior to BRCA-mutation testing, with generic information regarding hereditary BC and BRCA-mutation testing. This prospective study evaluated a novel format: replacing the intake consultation with telephone, written and digital information sent home, and face-to-face contact following BRCA-mutation testing (DNA-direct). From August 2011 to February 2012, 161 of 233 eligible BC patients referred to our Human Genetics department chose between DNA-direct (intervention) or DNA-intake (control). Exclusion criteria were psychological problems (n = 33), difficulty with Dutch text (n = 5), known BRCA-family (n = 3), non-BRCA-referral (n = 1). 30 declined genetic counseling or study participation. Participants received questionnaires including satisfaction and psychological distress. 59 % chose DNA-direct (p = 0.03), of whom 90 % were satisfied and would choose DNA-direct again (including 6/8 BRCA-mutation carriers); although 27 % hesitated to recommend DNA-direct to other patients. General distress (GHQ-12, p = 0.001) and heredity-specific distress (IES, p = 0.02) scored lower in DNA-direct than DNA-intake, both at baseline and follow-up 2 weeks after BRCA-result disclosure; all scores remained below clinical relevance. DNA-direct participants reported higher website use (53 vs. 32 %, p = 0.01), more referrer information about personal consequences (41 vs. 20 %, p = 0.004) and lower decisional conflict (median 20 [0–88] vs. 25 [0–50], p = 0.01). Processing time in DNA-direct was reduced by 1 month. Mutation detection rate was 8 % in both groups. All BRCA-mutation carriers fulfilled current testing criteria. In conclusion, more BC patients preferred DNA-direct over intake consultation prior to BRCA-mutation testing, the majority being strongly to moderately satisfied with the procedure followed, without increased distress.

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Acknowledgments

The authors would like to acknowledge M. F. W. J. Ariaans, H. J. van der Looij and M. Voorendt for genetic counseling of patients; P. Manders for statistical expertise; and all the participants for their cooperation. The study is funded by the Radboud University Medical Centre.

Conflict of interest

The authors declare no conflict of interest.

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Authors and Affiliations

  1. Department of Human Genetics 836, Radboud University Medical Centre, PO Box 9101, 6500 HB, Nijmegen, The Netherlands

    Aisha S. Sie, Wendy A. G. van Zelst-Stams, Liesbeth Spruijt, Arjen R. Mensenkamp, Marjolijn J. L. Ligtenberg, Han G. Brunner & Nicoline Hoogerbrugge

  2. Department of Pathology, Radboud University Medical Centre, Nijmegen, The Netherlands

    Marjolijn J. L. Ligtenberg

  3. Department of Medical Psychology, Radboud University Medical Centre, Nijmegen, The Netherlands

    Judith B. Prins

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  1. Aisha S. Sie
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  2. Wendy A. G. van Zelst-Stams
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  8. Nicoline Hoogerbrugge
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Corresponding author

Correspondence to Nicoline Hoogerbrugge.

Additional information

Wendy A.G. van Zelst-Stams and Liesbeth Spruijt have contributed equally to this work.

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Sie, A.S., van Zelst-Stams, W.A.G., Spruijt, L. et al. More breast cancer patients prefer BRCA-mutation testing without prior face-to-face genetic counseling. Familial Cancer 13, 143–151 (2014). https://doi.org/10.1007/s10689-013-9686-z

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