Scientific article
OA Policy
English

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

Published inCancers, vol. 14, no. 7, 1636
Publication date2022-03-23
First online date2022-03-23
Abstract

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.

Keywords
  • LASSO
  • Tier 1 genetic syndromes
  • Family invitation
  • Family-based cohort
  • Public health genetics
  • Untested relatives
Funding
  • Swiss Cancer Research Foundation - [KFS-5293-02-2021]
  • The Swiss Cancer League - [KLS-4294-08-2017]
Citation (ISO format)
SARKI, Mahesh et al. 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. In: Cancers, 2022, vol. 14, n° 7, p. 1636. doi: 10.3390/cancers14071636
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Identifiers
Additional URL for this publicationhttps://www.mdpi.com/2072-6694/14/7/1636
Journal ISSN2072-6694
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Technical informations

Creation13/10/2022 09:22:36
First validation23/05/2023 11:46:27
Update time07/01/2025 11:29:43
Status update07/01/2025 11:29:43
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