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.

Cascade genetic testing of relatives from families with pathogenic variants associated with hereditary breast and ovarian cancer (HBOC) or Lynch syndrome (LS) has important implications for cancer prevention. We compared the characteristics of relatives from HBOC or LS families who did not have genetic testing (GT (−) group) with those who had genetic testing (GT (+) group), regardless of the outcome. Self-administered surveys collected cross-sectional data between September 2017 and December 2021 from relatives participating in the CASCADE cohort. We used multivariable logistic regression with LASSO variable selection. Among n = 115 relatives who completed the baseline survey, 38% (n = 44) were in the GT (−) group. Being male (OR: 2.79, 95% CI: 1.10–7.10) and without a previous cancer diagnosis (OR: 4.47, 95% CI: 1.03–19.42) increased the odds of being untested by almost three times. Individuals from families with fewer tested relatives had 29% higher odds of being untested (OR: 0.71, 95% CI: 0.55–0.92). Reasons for forgoing cascade testing were: lack of provider recommendation, lack of time and interest in testing, being afraid of discrimination, and high out-of-pocket costs. Multilevel interventions designed to increase awareness about clinical implications of HBOC and LS in males, referrals from non-specialists, and support for testing multiple family members could improve the uptake of cascade testing.

Background: In hereditary breast and ovarian cancer (HBOC), family communication of genetic test results is essential for cascade genetic screening, that is, identifying and testing blood relatives of known mutation carriers to determine whether they also carry the pathogenic variant, and to propose preventive and clinical management options. However, up to 50% of blood relatives are unaware of relevant genetic information, suggesting that potential benefits of genetic testing are not communicated effectively within family networks. Technology can facilitate communication and genetic education within HBOC families. Objective: The aims of this study are to develop the K-CASCADE (Korean–Cancer Predisposition Cascade Genetic Testing) cohort in Korea by expanding an infrastructure developed by the CASCADE (Cancer Predisposition Cascade Genetic Testing) Consortium in Switzerland; develop a digital health intervention to support the communication of cancer predisposition for Swiss and Korean HBOC families, based on linguistic and cultural adaptation of the Family Gene Toolkit; evaluate its efficacy on primary (family communication of genetic results and cascade testing) and secondary (psychological distress, genetic literacy, active coping, and decision making) outcomes; and explore its translatability using the reach, effectiveness, adoption, implementation, and maintenance framework. Methods: The digital health intervention will be available in French, German, Italian, Korean, and English and can be accessed via the web, mobile phone, or tablet (ie, device-agnostic). K-CASCADE cohort of Korean HBOC mutation carriers and relatives will be based on the CASCADE infrastructure. Narrative data collected through individual interviews or mini focus groups from 20 to 24 HBOC family members per linguistic region and 6-10 health care providers involved in genetic services will identify the local cultures and context, and inform the content of the tailored messages. The efficacy of the digital health intervention against a comparison website will be assessed in a randomized trial with 104 HBOC mutation carriers (52 in each study arm). The translatability of the digital health intervention will be assessed using survey data collected from HBOC families and health care providers. Results: Funding was received in October 2019. It is projected that data collection will be completed by January 2023 and results will be published in fall 2023. Conclusions: This study addresses the continuum of translational research, from developing an international research infrastructure and adapting an existing digital health intervention to testing its efficacy in a randomized controlled trial and exploring its translatability using an established framework. Adapting existing interventions, rather than developing new ones, takes advantage of previous valid experiences without duplicating efforts. Culturally sensitive web-based interventions that enhance family communication and understanding of genetic cancer risk are timely. This collaboration creates a research infrastructure between Switzerland and Korea that can be scaled up to cover other hereditary cancer syndromes. Trial Registration: ClinicalTrials.gov NCT04214210; https://clinicaltrials.gov/ct2/show/NCT04214210 and CRiS KCT0005643; https://cris.nih.go.kr/cris/

Cette étude exploratoire illustre les défis et les opportunités de l’enquête qualitative à distance sur des sujets sensibles. L’analyse s’appuie sur l’expérience de quatorze chercheur·euse·s ayant vécu la bascule digitale liée à la pandémie du Covid-19 tantôt comme une contrainte, tantôt comme une ressource. À partir d’échanges en quatre focus groups, les participant·e·s relèvent des tensions au cœur de la recherche qualitative à distance : les données récoltées manquent d’informations proxémiques et contextuelles, tout en bénéficiant de plus de profondeur discursive ; l’interaction permet une certaine redistribution du pouvoir, mais s’accompagne d’une perte de contrôle de la part des chercheur·euse·s ; la distance virtuelle favorise l’intégrité et l’autonomie de l’enquêté·e, tout en faisant obstacle à l’empathie et à l’éthique du care ; l’accès facilité et le rapport coût-efficacité rendent la pratique online attractive, au risque de générer de nouvelles inégalités et des analyses superficielles. Ces résultats montrent que l’enquête à distance sur des sujets sensibles est une pratique scientifique paradoxale, capable d’innover comme de dénaturer le processus de recherche.

Résumé Le cyclisme des années 50 connaît en Suisse une extraordinaire popularité grâce aux deux champions helvétiques que sont Ferdinand Kübler et Hugo Koblet. Leurs victoires les mènent sur les plus hautes marches du podium et font d’eux de véritables héros. Mais leur association donne à voir un mythe tout à fait particulier au regard d’autres doublettes comme Gino Bartali et Fausto Coppi ou bien Jacques Anquetil et Raymond Poulidor. En effet, l’aspect contrasté et dialectiquement contradictoire de la paire helvétique est très lié au contexte de l’époque ainsi qu’à la configuration spécifique du pays, notamment politique et sportive, qui promeut, à travers le mythe d’une certaine « neutralité », un équilibre subtil. L’étude de deux clubs lausannois qui ont organisé les Tour de Romandie, Tour de France et Tour de Suisse entre 1947 et 1964, au regard d’un contexte suisse multi-culturel, va ainsi permettre de mieux saisir le fonctionnement du mythe des deux K à partir d’une articulation entre le local et le national. En définitive, ce mythe semble assez nouveau dans une société qui se tourne peut-être vers une « autre modernité ».

Capoeira’s worldwide growing popularity is the result of a heritage market conducted through processes of intercultural transmission and circulation. Taking this into consideration, how do you become a capoeirista in Europe and how do you build a long-lasting commitment? Supported by multi-situated fields analyses and by biographical interviews, the involvement process of non-Brazilian practitioners has revealed that careers are punctuated by four stages. Tensions between the involvement inside the capoeira ‘group’ and private and professional lives have revealed reasons for breaking away, accompanied by differences in the value systems of the different worlds. Negotiations between women and men from different social and cultural backgrounds bring to light micro-politics that go beyond the limits of the fighting activity, practiced as a sport or a leisure activity. They allow us to make sense of the multi-faceted – but enduring – involvement from a number, however limited, of non-Brazilian capoeiristas.