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

Maria Luisa Di Pietro, Drieda Zaçe, Alessia Orfino, Francesca Romana Di Raimo, Andrea Poscia, Elisabetta de Matteis, Daniela Turchetti, Lea Godino, Benedetta Beronazzi, Marzena Franiuk, Carla Bruzzone, Liliana Varesco, Emanuela Lucci-Cordisco, Maurizio Genuardi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalEuropean Journal of Human Genetics
DOIs
Publication statusAccepted/In press - 2020

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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