The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian Cancer Article Swipe
Carla Pedrazzani
,
Mónica Aceti
,
Reka Schweighoffer
,
Andrea Kaiser-Grolimund
,
Nicole Bürki
,
Pierre O. Chappuis
,
Rossella Graffeo
,
Christian Monnerat
,
Olivia Pagani
,
Manuela Rabaglio
,
Maria C. Katapodi
,
Maria Caiata Zufferey
·
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3390/jpm12081249
YOU?
·
· 2022
· Open Access
·
· DOI: https://doi.org/10.3390/jpm12081249
Low uptake of genetic services among members of families with hereditary breast and ovarian cancer (HBOC) suggests limitations of proband-mediated communication of genetic risk. This study explored how genetic information proceeds from healthcare providers to probands and from probands to relatives, from the probands’ perspectives. Using a grounded-theory approach, we analyzed narrative data collected with individual interviews and focus groups from a sample of 48 women identified as carriers of HBOC-associated pathogenic variants from three linguistic regions of Switzerland. The findings describe the “communication chain”, confirming the difficulties of proband-mediated communication. Provider–proband communication is impacted by a three-level complexity in the way information about family communication is approached by providers, received by probands, and followed-up by the healthcare system. Probands’ decisions regarding disclosure of genetic risk are governed by dynamic and often contradictory logics of action, interconnected with individual and family characteristics, eventually compelling probands to engage in an arbitrating process. The findings highlight the relevance of probands’ involvement in the communication of genetic risk to relatives, suggesting the need to support them in navigating the complexity of family communication rather than replacing them in this process. Concrete actions at the clinical and health system levels are needed to improve proband-mediated communication.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3390/jpm12081249
- https://www.mdpi.com/2075-4426/12/8/1249/pdf?version=1660105677
- OA Status
- gold
- Cited By
- 32
- References
- 41
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4289177391
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4289177391Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.3390/jpm12081249Digital Object Identifier
- Title
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The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband–Provider and Proband–Family Communication in Hereditary Breast and Ovarian CancerWork title
- Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
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2022Year of publication
- Publication date
-
2022-07-29Full publication date if available
- Authors
-
Carla Pedrazzani, Mónica Aceti, Reka Schweighoffer, Andrea Kaiser-Grolimund, Nicole Bürki, Pierre O. Chappuis, Rossella Graffeo, Christian Monnerat, Olivia Pagani, Manuela Rabaglio, Maria C. Katapodi, Maria Caiata ZuffereyList of authors in order
- Landing page
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https://doi.org/10.3390/jpm12081249Publisher landing page
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https://www.mdpi.com/2075-4426/12/8/1249/pdf?version=1660105677Direct link to full text PDF
- Open access
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YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
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https://www.mdpi.com/2075-4426/12/8/1249/pdf?version=1660105677Direct OA link when available
- Concepts
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Proband, Genetic counseling, Breast cancer, Medicine, Genetics, Family medicine, Psychology, Bioinformatics, Cancer, Biology, Internal medicine, Mutation, GeneTop concepts (fields/topics) attached by OpenAlex
- Cited by
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32Total citation count in OpenAlex
- Citations by year (recent)
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2025: 4, 2024: 16, 2023: 12Per-year citation counts (last 5 years)
- References (count)
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41Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.96969459 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | True |