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Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach

European Journal of Human Genetics volume 29, pages 250–261 (2021)Cite this article

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A Correction to this article was published on 23 September 2020

This article has been updated

Abstract

Genomic testing expansion is accompanied by an increasing need for genetic counselling and intrafamilial communication. Genetic counselling can play an important role in facilitating intrafamilial communication and relationships. We conducted a cross-sectional, multicenter study including 252 Italian women, using a questionnaire divided in two sections, the first one to be filled after the pre-test counselling and the second after receiving BRCA test results. We assessed the factors influencing intrafamilial disclosure of genetic information for hereditary breast and ovarian cancer, family members with whom probands are more prone to share genetic information, and the perceived understanding of information received by counselees during genetic counselling. Women were accompanied to the counselling more often by their husband/partner. Among those with a positive BRCA test result, 49% intended to communicate it to their offspring and 27% to their husband/partner. Younger women, those living with their husband/partner, and those who described family communication as open/profound and spontaneous/sincere had a higher probability of being accompanied during genetic counselling and discuss about it with relatives. Spontaneous/sincere or open/profound family communication and joyful/happy familial relationships were associated with the decision to undergo genetic testing as a responsibility towards relatives. Women had a good understanding of counselling contents (mean score 9.27 in a scale 1–10). Genetic counselling providers should consider that genetic information disclosure does not depend only on the clarity of the information provided, but also on pre-existing intrafamilial communication and relationships, family structure and marital status, indicating the need for a personalised approach accounting for these factors.

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Fig. 1: Participants’ flowchart.
Fig. 2: Correlations between factors influencing the communication of genetic information.

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Change history

  • 19 September 2020

    An amendment to this article has been published and can be accessed via a link at the top of the article.

  • 23 September 2020

    An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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Authors and Affiliations

  1. Sezione di Igiene, Dipartimento Universitario di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy

    Maria Luisa Di Pietro & Drieda Zaçe

  2. Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Alessia Orfino

  3. UOC Genetica Medica, Dipartimento di Scienze di Laboratorio e Infettivologiche, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, Italy

    Francesca Romana Di Raimo, Emanuela Lucci-Cordisco & Maurizio Genuardi

  4. UOC ISP Prevention and Surveillance of Infectious and Chronic Diseases—Department of Prevention—Local Health Authority (ASUR—AV2), Jesi, Italy

    Andrea Poscia

  5. Oncology Unit, “Vito Fazzi” Hospital, Lecce, Italy

    Elisabetta de Matteis

  6. U.O. Genetica Medica, Policlinico S. Orsola-Malpighi, Bologna, Italy

    Daniela Turchetti, Lea Godino & Benedetta Bertonazzi

  7. Centro di Ricerca sui Tumori Ereditari, Dipartimento di Scienze Mediche e Chirurgiche (DIMEC) Università di Bologna, Bologna, Italy

    Daniela Turchetti, Lea Godino & Benedetta Bertonazzi

  8. Hereditary Cancer Unit, IRCCS Ospedale Policlinico San Martino, Genoa, Italy

    Marzena Franiuk, Carla Bruzzone & Liliana Varesco

  9. Sezione di Medicina Genomica, Dipartimento di Scienze della Vita e Sanità Pubblica, Università Cattolica del Sacro Cuore, Rome, Italy

    Emanuela Lucci-Cordisco & Maurizio Genuardi

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  1. Maria Luisa Di Pietro
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  2. Drieda Zaçe
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Correspondence to Drieda Zaçe.

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Di Pietro, M.L., Zaçe, D., Orfino, A. et al. Intrafamilial communication of hereditary breast and ovarian cancer genetic information in Italian women: towards a personalised approach. Eur J Hum Genet 29, 250–261 (2021). https://doi.org/10.1038/s41431-020-00723-7

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