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

A Correction to this article was published on 23 September 2020

This article has been updated


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.

Access options

Rent or Buy article

Get time limited or full article access on ReadCube.


All prices are NET prices.

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

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.


  1. 1.

    Balmana J, Diez O, Rubio IT, Cardoso F, ESMO Guidelines Working Group. BRCA in breast cancer: ESMO clinical practice guidelines. Ann Oncol. 2011;22:vi31–4.

  2. 2.

    Kuchenbaeker KB, Hopper JL, Barnes DR, Phillips KA, Mooij TM, Roos-Blom MJ, et al. Risks of breast, ovarian, and contralateral breast cancer for BRCA1 and BRCA2 mutation carriers. JAMA. 2017;317:2402–16.

    Article  Google Scholar 

  3. 3.

    Domchek SM, Friebel TM, Singer CF, Evans DG, Lynch HT, Isaacs C, et al. Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality. JAMA. 2010;304:967–75.

    CAS  Article  Google Scholar 

  4. 4.

    Katapodi MC, Northouse RN, Pierce P, Williams RA. Differences between women who pursued genetic testing for hereditary breast and ovarian cancer and their at-risk relatives who did not. Oncol Nurs Forum. 2011;38:572–81.

    Article  Google Scholar 

  5. 5.

    Meisel SF, Fraser LSM, Side L, Gessler S, Hann KEJ, Wardle J. Anticipated health behavior changes and perceived control in response to disclosure of genetic risk of breast and ovarian cancer: a quantitative survey study among women in the UK. BMJ Open. 2017;7:e017675.

    Article  Google Scholar 

  6. 6.

    Mahoney MC. Breast cancer risk reduction and counselling: lifestyle, chemoprevention, and surgery. J Natl Compr Canc Netw. 2007;5:702–10.

    Article  Google Scholar 

  7. 7.

    Hodgson JM, Metcalfe SA, Aitken M, Donath SM, Gaff CL, Winship IM, et al. Improving family communication after a new genetic diagnosis: a randomised controlled trial of a genetic counselling intervention. BMC Med Genet. 2014;15:33.

    Article  Google Scholar 

  8. 8.

    Nycum G, Avard D, Knoppers BM. Factors influencing intrafamilial communication of hereditary breast and ovarian cancer genetic information. Eur J Hum Genet. 2009;17:87–880.

    Article  Google Scholar 

  9. 9.

    Koehly LM, Peterson SK, Watts BG, Kempf KKG, Vernon SW, Gritz ER. A social network analysis of communication about hereditary nonpolyposis colorectal cancer genetic testing and family functioning. Cancer Epidemiol Biomarkers Prev. 2003;12:304–13.

    PubMed  PubMed Central  Google Scholar 

  10. 10.

    Rolland JS. Genetics, family systems, and multicultural influences. Fam Syst Health. 2006;24:425–41.

    Article  Google Scholar 

  11. 11.

    Mendes A, Metcalfe A, Paneque M, Sousa L, Clarke AJ, Sequeiros J. Communication of information about genetic risks: putting families at the center. Fam Process. 2017;57:836–46.

    Article  Google Scholar 

  12. 12.

    Hoskins LM, Roy K, Peters JA, Loud JT, Greene MH. Disclosure of positive BRCA1/2-mutation status in young couples: the journey from uncertainty to bonding through partner support. Fam Syst Health. 2008;26:296–316.

    Article  Google Scholar 

  13. 13.

    Claes E, Evers-Kiebooms G, Boogaerts A, Decruyenaere M, Denayer L, Legius E. Communication with close and distant relatives in the context of genetic testing for hereditary breast and ovarian cancer in cancer patients. Am J Med Genet. 2003;116A:11–9.

    Article  Google Scholar 

  14. 14.

    Elrick A, Ashida S, Ivanovich J, Lyons S, Biesecker BB, Goodman MS, et al. Psychosocial and clinical factors associated with family communication of cancer genetic test results among women diagnosed with breast cancer at a young age. J Genet Couns. 2017;26:173–81.

    Article  Google Scholar 

  15. 15.

    Keenan KF, McKee L, Miedzybrodzka L. Genetics professionals’ experiences of facilitating parent/child communication through the genetic clinic. J Genet Couns. 2020;29:44–55.

    Article  Google Scholar 

  16. 16.

    Pollard S, Kalloger S, Weymann D, Sun S, Nuk J, Schrader KA, et al. Genetic testing for hereditary cancer syndromes: patient recommendations for improved risk communication. Health Expect. 2020;00:1–9.

  17. 17.

    McDaniel SH, Rolland JS, Feetham SL, Miller SM. “It runs in the family”: family systems concepts and genetically linked disorders. In: Miller SM, McDaniel SH, Rolland JS, Feetham SL, editors. Individuals, families, and the new era of genetics: biopsychosocial perspectives. New York: W.W. Norton & Company; 2006. p. 118–318.

  18. 18.

    Kenen R, Arden-Jones A, Eeles R. Healthy women from suspected hereditary breast and ovarian cancer families: the significant others in their lives. Eur J Cancer Care. 2004;13:169–79.

    CAS  Article  Google Scholar 

  19. 19.

    Julian-Reynier C, Eisinger F, Chabal F, Lasset C, Nogues C, Stoppa-Lyonnet D, et al. Disclosure to the family of breast/ovarian cancer genetic test results: patient’s willingness and associated factors. Am J Med Genet. 2000;94:13–8.

    CAS  Article  Google Scholar 

  20. 20.

    Gilbar R. Communicating genetic information in the family: the familial relationship as the forgotten factor. J Med Ethics. 2007;33:390–93.

    Article  Google Scholar 

  21. 21.

    Speice J, McDaniel SH, Rowley PT, Loader S. Family issues in a psychoeducation group for women with a BRCA mutation. Clin Genet. 2002;62:121–7.

    CAS  Article  Google Scholar 

  22. 22.

    Hughes C, Lerman C, Schwartz M, Peshkin BN, Wenzsel L, Narod S, et al. All in the family: evaluation of the process and content of sisters’ communication about BRCA1 and BRCA2 genetic test results. Am J Med Genet. 2002;107:143–50.

    Article  Google Scholar 

  23. 23.

    Patenaude AF, Dorval M, DiGianni LM, Schneider KA, Chittenden A, Garber JE, et al. Sharing BRCA1/2 test results with first degree relatives: factors predicting whom women tell. J Clin Oncol. 2005;24:700–6.

    Article  Google Scholar 

  24. 24.

    D’Agincourt-Canning L. Experiences of genetic risk: disclosure and the gendering of responsibility. Bioethics. 2001;15:231.

    Article  Google Scholar 

  25. 25.

    Metcalfe A, Coad J, Plumridge GM, Gill P, Farndon P. Family communication between children and their parents about inherited genetic conditions: a meta-synthesis of the research. Eur J Hum Genet. 2008;16:1193–200.

    Article  Google Scholar 

  26. 26.

    Van Oostrom I, Meijers-Heijboer H, Duivenvoorden HJ, van Gool AR, Seynaeve C, Meer CA, et al. Social and behavioral research in clinical genetics. Clin Genet. 2007;71:35–42.

    Article  Google Scholar 

  27. 27.

    Black L, McClellan KA, Avard D, Knoppers BM. Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider. J Community Genet. 2013;4:203–14.

    Article  Google Scholar 

  28. 28.

    Foster C, Eeles R, Arden-Jones A, Moynihan C, Watson M. Juggling roles and expectations: dilemmas faced by women talking to relatives about cancer and genetic testing. Psychol Health. 2004;19:439–55.

    Article  Google Scholar 

  29. 29.

    Chalmers K, Marles S, Tataryn D, Scott-Findlay S, Serfas K. Reports of information and support needs of daughters and sisters of women with breast cancer. Eur J Cancer Care. 2003;12:81–90.

    CAS  Article  Google Scholar 

  30. 30.

    Elwyin G, Gray J, Clarke AJ. Shared decision making and nondirectiveness in genetic counselling. J Med Genet. 2000;37:135–8.

    Article  Google Scholar 

  31. 31.

    Mendes Á, Paneque M, Sousa L, Clarke A, Sequeiros J. How communication of genetic information within the family is addressed in genetic counselling: a systematic review of research evidence. Eur J Hum Genet. 2016;24:315–25.

    Article  Google Scholar 

  32. 32.

    Jacobs C, Patch C, Michie S. Communication about genetic testing with breast and ovarian cancer patients: a scoping review. Eur J Hum Genet. 2019;27:511–24.

    Article  Google Scholar 

  33. 33.

    Gaff C, Hodgson J. A genetic counselling intervention to facilitate communication about inherited conditions. Eur J Hum Genet. 2014;23:914–23.

    Google Scholar 

  34. 34.

    Abacan MA, Alsubaie L, Barlow-Stewart K, Caanen B, Cordier C, Courtney E, et al. The global state of the genetic counsling profession. Eur J Hum Genet. 2019;2:183–97.

    Article  Google Scholar 

  35. 35.

    SPRinG Collaboration. Developing an intervention to facilitate family communication about inherited genetic conditions, and training genetic counsellors in its delivery. Eur J Hum Genet. 2016;24:794–802.

    Article  Google Scholar 

  36. 36.

    Mendes A, Chiquelho R, Santos T, Sousa L. Family matters: examining a multifamily group intervention for women with BRCA mutations in the scope of genetic counselling. J Community Genet. 2010;1:161–8.

    Article  Google Scholar 

Download references

Author information



Corresponding author

Correspondence to Drieda Zaçe.

Ethics declarations

Conflict of interest

The authors declare that they have no conflict of interest.

Additional information

Publisher’s note Springer Nature remains neutral with regard to jurisdictional claims in published maps and institutional affiliations.

Supplementary information

Rights and permissions

Reprints and Permissions

About this article

Verify currency and authenticity via CrossMark

Cite this article

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 (2020).

Download citation


Quick links