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

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

doi:10.1038/s41431-020-00723-7

Cited by 13 publications

(13 citation statements)

References 33 publications

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“…Within jurisdictions where cascade testing is facilitated through interfamilial communication of a positive finding, it is well established that probands face a variety of challenges throughout the communication process with family members 15 . Strained or distant relationships, limited genetic literacy, and lack of understanding about cascade testing have been identified as barriers to effective communication 15–17 . Conversely, female gender, closer kinship, and the perception that family members will respond favourably to the information are known facilitators of familial communication and results sharing 18,19 .…”

Section: Introductionmentioning

confidence: 99%

“…15 Strained or distant relationships, limited genetic literacy, and lack of understanding about cascade testing have been identified as barriers to effective communication. [15][16][17] Conversely, female gender, closer kinship, and the perception that family members will respond favourably to the information are known facilitators of familial communication and results sharing. 18,19 Due in part to known barriers to communication, cascade testing within affected families remains suboptimal.…”

Section: Introductionmentioning

confidence: 99%

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Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach

Pollard¹,

Weymann²,

Loewen³

et al. 2023

Health Expectations

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Introduction: Genetic testing for hereditary cancer syndromes (HCSs) can improve health outcomes through cancer risk mitigation strategies. Effective communication between tested individuals and their family members is key to reducing the hereditary cancer burden. Our objective was to develop a patient portal to improve familial communication for patients undergoing HCS genetic testing, followed by an early-phase evaluation. Methods: The portal was developed following the completion of 25 semistructured interviews with individuals having undergone HCS susceptibility testing at BC Cancer. Following initial development, we recruited patients and healthcare providers to provide critical feedback informing portal refinement. Quantitative feedback was summarized using descriptive statistics, and qualitative feedback was synthesized by two reviewers who engaged in iterative discussion within the research team to prioritize recommendations for integration. Results: The patient portal includes four key components consisting of (a) targeted educational information about hereditary cancer and HBOC syndrome associated risks and testing process overview, (b) a general frequently asked questions 'FAQ' page informed by the qualitative interviews, patient partner feedback, and consultation with the HCP, (c) guidance to support familial communication including a video developed with a patient partner describing their lived experience navigating the communication process and (d) a series of lay summaries of genetic test findings to support information transfer among family members. Thirteen healthcare providers and seven patients participated in user testing. Domains within which

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach

Pollard¹,

Weymann²,

Loewen³

et al. 2023

Health Expectations

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“…Other studies have examined reasons for sharing test results (e.g., encouraging relatives' testing and informing their medical decisions) [11,12] or barriers to communication of results (e.g., lack of geographic proximity, loss of contact, distress, number of BRCA-related cancer deaths in the family) [6,13]. Family functioning and family relationship quality have emerged as predictors of family communication of genetic test results [9,[13][14][15]. Lack of a close relationship has been identified as a barrier in sharing genetic test information with distant relatives [8,11,16], as have relationship dysfunction, preexisting communication patterns, and cross-generational issues [16].…”

Section: Introductionmentioning

confidence: 99%

Predictors of Women’s Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members

Winskill

Goodman

Daly

et al. 2023

Public Health Genomics

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Introduction: Many individuals who previously received negative genetic test results are eligible for updated testing. This study examined intention to communicate updated genetic test results to relatives in participants who previously received negative genetic test results. Methods: Women with a personal or family history of breast or ovarian cancer who tested negative for BRCA1/2 before 2013 were enrolled between April 2018 and October 2019. Proportions were calculated to assess intention to communicate updated genetic test results to living immediate family, extended family, and all family. Potential predictors of intentions from the theory of planned behavior (attitudes, subjective norms, perceived behavioral control) were assessed. The three outcomes were analyzed using generalized linear models with a quasi-binomial probability distribution. Results: 110 women completed the baseline assessment prior to updated testing. Participants intended to communicate genetic test results to 90% of immediate family, 51% of extended family, and 66% of all living relatives. Participants with higher subjective norms (aOR = 1.93, 95% CI: 1.08–3.57) had higher intentions to communicate genetic test results to extended family, while participants with more positive attitudes (aOR = 1.27, 95% CI: 1.01–1.60) had higher intentions to communicate to all family. Placing higher importance on genetic information was associated with higher intentions to communicate to immediate family (aOR = 1.40, 95% CI: 1.06–1.83). Lower subjective numeracy was associated with higher intentions to communicate to extended family (aOR = 0.50, 95% CI: 0.32–0.76). Conclusion: Attitudes and subjective norms were predictors of intention to communicate updated genetic information to at-risk biological relatives, and predictors may vary by degree of relationship.

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“…Thus, knowledge about the gene alteration significantly influences the process of disclosing a pathogenic test result to relatives 7 . In particular, the complex nature of genetics and associated uncertainties about the families’ risk may act as a barrier in the communication process 7 , 8 , whereas valid knowledge about the gene alteration may enhance family communication 9 . Moreover, family-related factors have impact on communication 10 , for instance the presence of a family history of cancer, the quality of intrafamilial relationships 11 , 12 as well as the communication style within a family.…”

Section: Introductionmentioning

confidence: 99%

“…Moreover, family-related factors have impact on communication 10 , for instance the presence of a family history of cancer, the quality of intrafamilial relationships 11 , 12 as well as the communication style within a family. Furthermore, communication may be affected by emotional barriers, for instance the mutation carriers’ desire to protect relatives from the psychosocial distress associated with that hereditary cancer risk 8 . In addition, there might be a discrepancy in the communication frequencies with male and female relatives, thus partially underestimating the relevance for males 13 .…”

Section: Introductionmentioning

confidence: 99%

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

Blomen

Pott

Volk

et al. 2021

Sci Rep

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The detection of a pathogenic variant in the BRCA1 or BRCA2 gene has medical and psychological consequences for both, affected mutation carriers and their relatives. A two-phase study with explanatory sequential mixed methods design examined the psychological impact of genetic testing and associated family communication processes. Analyzing a survey data of 79 carriers of a BRCA1 or BRCA2 mutation, the majority had general psychological distress independent of cancer diagnosis in the patients’ history. The point prevalence of depression was 16.9%. Contrary to their subjective perception, the respondents’ knowledge about those mutations was moderate. Despite the high rate of information transfer to relatives at risk (100%), their reported uptake of genetic testing was low (45.6%). Communication about the mutation detection was more frequent with female than with male relatives. In-depth focus group interviews revealed significant barriers to accessing genetic counseling including anxiety, uncertainty about the benefits of testing and about the own cancer risk, particularly among males. This study suggests that an adequate knowledge of the genetic background and psychological support is required to reduce emotional distress, to support familial communication and to facilitate genetic testing.

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

Cited by 13 publications

References 33 publications

Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach

Development and early‐stage evaluation of a patient portal to enhance familial communication about hereditary cancer susceptibility testing: A patient‐driven approach

Predictors of Women’s Intentions to Communicate Updated Genetic Test Results to Immediate and Extended Family Members

Communication processes about predictive genetic testing within high-risk breast cancer families: a two-phase study design

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