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Article

Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort

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Department of Clinical Research, University of Basel, 4055 Basel, Switzerland
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Breast Center, Cantonal Hospital Fribourg, 1752 Fribourg, Switzerland
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GENESUPPORT, The Breast Centre, Hirslanden Clinique de Grangettes, 1224 Geneva, Switzerland
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Women’s Clinic, University Hospital Basel, 4031 Basel, Switzerland
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Department of Business Economics, Health and Social Care, University of Applied Sciences and Arts of Southern Switzerland, 6928 Manno, Switzerland
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Clinical Trials Unit, University Hospital Basel, 4031 Basel, Switzerland
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Oncology Institute of Southern Switzerland, EOC, 6500 Bellinzona, Switzerland
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Institute for Medical Genetics and Pathology, University Hospital Basel, 4031 Basel, Switzerland
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Research Group Human Genomics, Department of Biomedicine, University of Basel, 4031 Basel, Switzerland
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Department of Medical Oncology, Hospital of Jura, 2800 Delemont, Switzerland
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Swiss Tropical and Public Health Institute, University of Basel, 4123 Allschwil, Switzerland
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Department of Medical Oncology, Inselspital, Bern University Hospital, 3010 Bern, Switzerland
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Department of Medical Oncology, Cantonal Hospital Winterthur, 8400 Winterthur, Switzerland
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Unit of Oncogenetics, Division of Oncology, University Hospitals of Geneva, 1205 Geneva, Switzerland
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Division of Genetic Medicine, University Hospitals of Geneva, 1205 Geneva, Switzerland
*
Author to whom correspondence should be addressed.
Membership of the CASCADE Consortium is provided in the Acknowledgments.
Academic Editor: David Wong
Cancers 2022, 14(7), 1636; https://doi.org/10.3390/cancers14071636
Received: 1 March 2022 / Revised: 16 March 2022 / Accepted: 21 March 2022 / Published: 23 March 2022
This paper presents important information for the implementation of cascade screening programs for hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS). The study examined theory-based predictors of index cases’ intention to invite relatives to a family-based cohort, rates of cascade testing among relatives, and preferences of those who carry a pathogenic variant for patient- or provider-mediated communication of testing results to untested relatives. While index cases are equally likely to invite relatives of both genders, males are more likely to not respond to the invitation, especially for HBOC. Findings have implications for tailoring cascade screening programs.
Cascade screening for Tier 1 cancer genetic conditions is a significant public health intervention because it identifies untested relatives of individuals known to carry pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) and Lynch syndrome (LS). The Swiss CASCADE is a family-based, open-ended cohort, including carriers of HBOC- and LS-associated pathogenic variants and their relatives. This paper describes rates of cascade screening in relatives from HBOC- and LS- harboring families, examines carriers’ preferences for communication of testing results, and describes theory-based predictors of intention to invite relatives to a cascade screening program. Information has been provided by 304 index cases and 115 relatives recruited from September 2017 to December 2021. On average, 10 relatives per index case were potentially eligible for cascade screening. Approximately 65% of respondents wanted to invite relatives to the cohort, and approximately 50% indicated a preference for patient-mediated communication of testing results, possibly with the assistance of digital technology. Intention to invite relatives was higher for first- compared to second- and third-degree relatives, but was not different between syndromes or based on relatives’ gender. The family environment and carrying pathogenic variants predicts intention to invite relatives. Information helps optimize delivery of tailored genetic services. View Full-Text
Keywords: family-based cohort; family invitation; LASSO; public health genetics; Tier 1 genetic syndromes; untested relatives family-based cohort; family invitation; LASSO; public health genetics; Tier 1 genetic syndromes; untested relatives
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MDPI and ACS Style

Sarki, M.; Ming, C.; Aissaoui, S.; Bürki, N.; Caiata-Zufferey, M.; Erlanger, T.E.; Graffeo-Galbiati, R.; Heinimann, K.; Heinzelmann-Schwarz, V.; Monnerat, C.; Probst-Hensch, N.; Rabaglio, M.; Zürrer-Härdi, U.; Chappuis, P.O.; Katapodi, M.C.; on behalf of the CASCADE Consortium. Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort. Cancers 2022, 14, 1636. https://doi.org/10.3390/cancers14071636

AMA Style

Sarki M, Ming C, Aissaoui S, Bürki N, Caiata-Zufferey M, Erlanger TE, Graffeo-Galbiati R, Heinimann K, Heinzelmann-Schwarz V, Monnerat C, Probst-Hensch N, Rabaglio M, Zürrer-Härdi U, Chappuis PO, Katapodi MC, on behalf of the CASCADE Consortium. Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort. Cancers. 2022; 14(7):1636. https://doi.org/10.3390/cancers14071636

Chicago/Turabian Style

Sarki, Mahesh, Chang Ming, Souria Aissaoui, Nicole Bürki, Maria Caiata-Zufferey, Tobias Ephraim Erlanger, Rossella Graffeo-Galbiati, Karl Heinimann, Viola Heinzelmann-Schwarz, Christian Monnerat, Nicole Probst-Hensch, Manuela Rabaglio, Ursina Zürrer-Härdi, Pierre Olivier Chappuis, Maria C. Katapodi, and on behalf of the CASCADE Consortium. 2022. "Intention to Inform Relatives, Rates of Cascade Testing, and Preference for Patient-Mediated Communication in Families Concerned with Hereditary Breast and Ovarian Cancer and Lynch Syndrome: The Swiss CASCADE Cohort" Cancers 14, no. 7: 1636. https://doi.org/10.3390/cancers14071636

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