New insights into fever phobia: a pilot qualitative study with caregivers and their healthcare providers.

Despite the availability of clinical guidelines on the correct symptomatic management of fever in children, several studies have reported inaccurate knowledge about this symptom and inappropriate management behaviours among caregivers. There is evidence that caregivers' management of fever is largely influenced by unrealistic and unwarranted concerns about the potential harm that elevated body temperature can cause, a phenomenon commonly referred to as fever phobia. Research on fever phobia has predominantly focused on the role of fever misconceptions in triggering anxiety and impeding a proper fever management, in terms of both concept and operationalization, with little attention to the influence of the relationship between caregivers and the healthcare team. The aim of this pilot study was to explore and describe fever-related knowledge, experience and behaviour among a sample of caregivers, paediatricians and their medical assistants in the Canton of Ticino, Switzerland. We used a qualitative study design with semi-structured, one-to-one interviews with paediatricians employed in private healthcare facilities, their medical assistants and caregivers with at least one child between the ages of 0 and 3 years. We conducted individual interviews either in person or by phone, according to participants' preferences, between October 2020 and February 2021. We performed an inductive-deductive analysis of the transcripts to identify the most meaningful themes from participants' reports. The analysis of the transcripts yielded three main themes. The first theme refers to participants' awareness of the emotional component in managing the child's fever and the challenges this component presents. The second theme refers to the risk of overtreating when the child's right to be sick is not recognized and respected. The third theme refers to the importance of the relational component, showing how a solid therapeutic alliance with the healthcare team helps caregivers develop self-confidence in managing the child's fever. This study contributes to advance our understanding of fever phobia and to a better conceptualization and operationalization of this phenomenon. CONCLUSION: Our results point out to the importance of going beyond a knowledge gap paradigm and recognizing both the emotional and the relational component of fever phobia, the former being entrenched in latter, that is, the unique relationship caregivers establish with their child's paediatrician and the medical assistant. WHAT IS KNOWN: • Research on fever phobia has predominantly focused on the role of fever misconceptions in triggering anxiety and impeding a proper fever management, in terms of both concept and operationalization, with little attention to the relational component of this phenomenon. WHAT IS NEW: • Our results point out to the importance of recognizing the emotional component of fever phobia, beyond its declarative and procedural knowledge dimensions. They also suggest that overtreating is not necessarily and not only the result of a phobia but also of a particular conception of health and the relational component of this phenomenon, which is entrenched in the unique relationship caregivers establish with their child's paediatrician and the medical assistant.

Challenges in managing genetic cancer risk: a long-term qualitative study of unaffected women carrying BRCA1/BRCA2 mutations.

PURPOSE: Women carrying BRCA1/BRCA2 germ-line mutations have an increased risk of developing breast/ovarian cancer. To minimize this risk, international guidelines recommend lifelong surveillance and preventive measures. This study explores the challenges that unaffected women genetically predisposed to breast/ovarian cancer face in managing their risk over time and the psychosocial processes behind these challenges. METHODS: Between 2011 and 2013, biographical qualitative interviews were conducted in Switzerland with 32 unaffected French- and Italian-speaking women carrying BRCA1/BRCA2 mutations. Their mutation status had been known for at least 3 years (mean, 6 years). Data were analyzed through constant comparative analysis using software for qualitative analysis. RESULTS: From the time these women received their positive genetic test results, they were encouraged to follow medical guidelines. Meanwhile, their adherence to these guidelines was constantly questioned by their social and medical environments. As a result of these contradictory pressures, BRCA1/BRCA2 mutation carriers experienced a sense of disorientation about the most appropriate way of dealing with genetic risk. CONCLUSION: Given the contradictory attitudes of health-care professionals in caring for unaffected BRCA1/BRCA2 mutation carriers, there is an urgent need to educate physicians in dealing with genetically at-risk women and to promote a shared representation of this condition among them.Genet Med 17 9, 726-732.

Dissonant role perception and paradoxical adjustments: an exploratory study on Medical Residents' collaboration with Senior Doctors and Head Nurses.

A good collaboration between health professionals is considered to have benefits for patients, healthcare staff, and organizations. Nevertheless, effective interprofessional collaboration is difficult to achieve. This is particularly true for collaboration between Medical Residents (MRs) and the immediate colleagues they interact with, as Senior Doctors (SDs) and Head Nurses (HNs). Role understanding is one of the factors that may explain difficulties in interprofessional collaboration. Based on this hypothesis, this paper focuses on MRs' role, devoting particular attention to differences in role perception between MRs, SDs, and HNs, and to their consequences for interprofessional collaboration. An exploratory qualitative study inspired by Grounded Theory was conducted in April 2009 in a small peripheral and non-university hospital in Switzerland. Data came from two focus groups with MRs (13), one with SDs (8), and one with HNs (7), and were analyzed using the constant comparative method. Findings show that the expected and the enacted role of MR are perceived differently by SDs, HNs and MRs themselves. To face the inconsistencies within MR's role, the three professional groups develop some adjustments that eventually prove to be paradoxical: on one side, they make collaboration possible and preserve the functioning of the ward, while on the other side they lead to mutual misunderstanding and discontent. These findings suggest that there is an urgent need of defining the role of MRs, of delimiting its boundaries and thereby distinguishing it from other health workers, and eventually of promoting a shared representation of it.

Modes of responsibility in disclosing cancer genetic test results to relatives: An analysis of Swiss and Korean narrative data.

OBJECTIVE: We examined how responsibility (the "duty to inform relatives about genetic testing results") is understood and enacted among Swiss and Korean women carrying BRCA1 or BRCA2 pathogenic variants. METHODS: In-depth interviews and/or focus groups with 46 Swiss and 22 Korean carriers were conducted, using an identical interview guide. Data were analyzed inductively and translated into English for cross-country comparisons. RESULTS: We identified five modes of responsibility in both samples: Persuader, Enabler, Relayer, Delayer, and Decliner. The Enabler and Relayer modes were the most common in both countries. They followed the rational imperative of health and norms of competence and self-determination, respectively. The Relayer mode transmitted information without trying to influence relatives' decisions. The Delayer and Decliner modes withheld information, deeming it the best way to safeguard the family during that specific moment of its trajectory. Responsibility to disclose testing results was influenced by culturally diverging conceptions of the family unit and socio-contextual norms. CONCLUSION: Responsibility primarily reflects the imperative of health prevention; findings demonstrate various interpretations, including the sense of family caring achieved through controlled disclosure of genetic information. PRACTICE IMPLICATIONS: Findings offer healthcare providers socio-anthropological insights to assist probands navigate the disclosure of genetic information within their families. TRIAL REGISTRATION NUMBER: NCT04214210 (registered Nov 2, 2020), KCT 0005643 (registered Nov 23, 2020).

Crucial and fragile: a multi-methods and multi-disciplinary study of cooperation in the aftermath of the COVID-19 pandemic.

In addressing global pandemics, robust cooperation across nations, institutions, and individuals is paramount. However, navigating the complexities of individual versus collective interests, diverse group objectives, and varying societal norms and cultures makes fostering such cooperation challenging. This research delves deep into the dynamics of interpersonal cooperation during the COVID-19 pandemic in Canton Ticino, Switzerland, using an integrative approach that combines qualitative and experimental methodologies. Through a series of retrospective interviews and a lab-in-the-field experiment, we gained insights into the cooperation patterns of healthcare and manufacturing workers. Within healthcare, professionals grappled with escalating emergencies and deteriorating work conditions, resisting the "new normalcy" ushered in by the pandemic. Meanwhile, manufacturing workers adapted to the altered landscape, leveraging smart working strategies to carve out a fresh professional paradigm amidst novel challenges and opportunities. Across these contrasting narratives, the centrality of individual, institutional, and interpersonal factors in galvanizing cooperation was evident. Key drivers like established relational dynamics, mutual dependencies, and proactive leadership were particularly salient. Our experimental findings further reinforced some of these qualitative insights, underscoring the pivotal role of recognition and the detrimental effects of uncertainty on cooperative behaviors. While contextual and sample-related constraints exist, this study illuminates vital facets of cooperation during crises and lays the groundwork for future explorations into cooperative decision-making.

Motivational interviewing for prevention in Swiss family medicine: Opportunities and challenges.

Health promotion and primary prevention are a priority in a healthcare system characterised by a prevalence of chronic conditions. In this context, motivational interviewing (MI) as provided by family doctors (FDs) seems promising: influential health professionals motivate patients to adopt healthy lifestyles in a patient-centred style that promotes a balanced, horizontal doctor-patient relationship. Based on these assumptions, a pilot project called Girasole was implemented in Switzerland between 2016 and 2018 to train and support 19 FDs in implementing MI in their practices. This paper presents the analysis of implementation of the intervention with the aim of exploring the doctors' experiences with MI through a qualitative research design. Data derive from focus groups and interviews with the participants, and from the observation of collective training sessions and follow-up meetings. A thematic analysis was conducted using the software Atlas.ti. Results show that there is great diversity in how FDs implement MI. FDs can be classified in four groups - convinced, interested, critical, and resistant - based on their adherence to the principles underlying the MI approach. This taxonomy highlights opportunities and challenges for family medicine: MI offers flexible tools and new ways of interacting with patients to meet the challenges of non-communicable and chronic diseases; at the same time, the issues associated with the medicalisation of human everyday problems, physicians' status loss, and low cost-effectiveness should not be underestimated. Any further attempt to promote MI among FDs should take into account their individual attitudes and should establish tailored approaches and training methods.

Privacy and utility of genetic testing in families with hereditary cancer syndromes living in three countries: the international cascade genetic screening experience.

Background: Hereditary breast and ovarian cancer and Lynch syndrome are associated with increased lifetime risk for common cancers. Offering cascade genetic testing to cancer-free relatives of individuals with HBOC or LS is a public health intervention for cancer prevention. Yet, little is known about the utility and value of information gained from cascade testing. This paper discusses ELSI encountered during the implementation of cascade testing in three countries with national healthcare systems: Switzerland, Korea, and Israel. Methods: A workshop presented at the 5th International ELSI Congress discussed implementation of cascade testing in the three countries based on exchange of data and experiences from the international CASCADE cohort. Results: Analyses focused on models of accessing genetic services (clinic-based versus population-based screening), and models of initiating cascade testing (patient-mediated dissemination versus provider-mediated dissemination of testing results to relatives). The legal framework of each country, organization of the healthcare system, and socio-cultural norms determined the utility and value of genetic information gained from cascade testing. Conclusion: The juxtaposition of individual versus public health interests generates significant ELSI controversies associated with cascade testing, which compromise access to genetic services and the utility and value of genetic information, despite national healthcare/universal coverage.

Predicting Openness of Communication in Families With Hereditary Breast and Ovarian Cancer Syndrome: Natural Language Processing Analysis.

BACKGROUND: In health care research, patient-reported opinions are a critical element of personalized medicine and contribute to optimal health care delivery. The importance of integrating natural language processing (NLP) methods to extract patient-reported opinions has been gradually acknowledged over the past years. One form of NLP is sentiment analysis, which extracts and analyses information by detecting feelings (thoughts, emotions, attitudes, etc) behind words. Sentiment analysis has become particularly popular following the rise of digital interactions. However, NLP and sentiment analysis in the context of intrafamilial communication for genetic cancer risk is still unexplored. Due to privacy laws, intrafamilial communication is the main avenue to inform at-risk relatives about the pathogenic variant and the possibility of increased cancer risk. OBJECTIVE: The study examined the role of sentiment in predicting openness of intrafamilial communication about genetic cancer risk associated with hereditary breast and ovarian cancer (HBOC) syndrome. METHODS: We used narratives derived from 53 in-depth interviews with individuals from families that harbor pathogenic variants associated with HBOC: first, to quantify openness of communication about cancer risk, and second, to examine the role of sentiment in predicting openness of communication. The interviews were conducted between 2019 and 2021 in Switzerland and South Korea using the same interview guide. We used NLP to extract and quantify textual features to construct a handcrafted lexicon about interpersonal communication of genetic testing results and cancer risk associated with HBOC. Moreover, we examined the role of sentiment in predicting openness of communication using a stepwise linear regression model. To test model accuracy, we used a split-validation set. We measured the performance of the training and testing model using area under the curve, sensitivity, specificity, and root mean square error. RESULTS: Higher "openness of communication" scores were associated with higher overall net sentiment score of the narrative, higher fear, being single, having nonacademic education, and higher informational support within the family. Our results demonstrate that NLP was highly effective in analyzing unstructured texts from individuals of different cultural and linguistic backgrounds and could also reliably predict a measure of "openness of communication" (area under the curve=0.72) in the context of genetic cancer risk associated with HBOC. CONCLUSIONS: Our study showed that NLP can facilitate assessment of openness of communication in individuals carrying a pathogenic variant associated with HBOC. Findings provided promising evidence that various features from narratives such as sentiment and fear are important predictors of interpersonal communication and self-disclosure in this context. Our approach is promising and can be expanded in the field of personalized medicine and technology-mediated communication.

Acceptability and Usability of the Family Gene Toolkit for Swiss and Korean Families Harboring BRCA1/BRAC2 Pathogenic Variants: A Web-Based Platform for Cascade Genetic Testing.

The study adapted the Family Gene Toolkit and developed a customized web application for Swiss and Korean families harboring BRCA1 or BRCA2 pathogenic variants to support family communication of genetic testing results and promote cascade genetic testing among at-risk relatives. In the first step, narrative data from 68 women with BRCA1/BRCA2 pathogenic variants and clinician feedback informed a culturally sensitive adaptation of the content consistent with current risk management guidelines. In the second step, the Information Technology team developed the functions and the interface of the web application that will host the intervention. In the third step, a new sample of 18 women from families harboring BRCA1/BRCA2 pathogenic variants tested the acceptability and usability of the intervention using "think-aloud" interviews and a questionnaire. Participants expressed high levels of satisfaction with the intervention. They provided positive feedback for the information regarding active coping, strategies to enhance family communication, interactive elements, and illustrative stories. They reported that the information was useful and the web application was easy to navigate. Findings suggest that the Family Gene Toolkit is well-designed and can increase rates of cascade testing among at-risk relatives. Its efficacy will be tested in a subsequent randomized trial.

Living with Gitelman disease: an insight into patients' daily experiences.

BACKGROUND: Gitelman disease presents with musculoskeletal complaints and fatigue. Surprisingly, there is no clear-cut correlation between biochemical abnormalities and symptoms. METHODS: Starting from the hypothesis that the way patients comprehend their illness within their sociocultural frameworks reflects on their way of adapting to it, this study investigated how adult patients experience the disease in everyday life. We conducted a qualitative analysis based on interviews with 12 patients. Interviews were audio recorded, fully transcribed and analyzed using the constant comparative method described by Strauss and Corbin. RESULTS: A typology of the experiences emerged from the data and was tested on each transcript with an explicit search for disconfirming cases. Patients fell into four main groups: (i) those considering Gitelman disease a disabling illness, (ii) those considering it a normalized illness, (iii) those considering it a different normality and (iv) those considering it an episodic disability. Each pattern of experience was characterized by particular (i) ways of interpreting symptoms (ii) ways of managing Gitelman disease in everyday life, (iii) general lifestyles and (iv) risks for the patient's psychosocial life. CONCLUSIONS: These findings suggest that health care providers should take advantage of considering patients' own perception of the disease in order to adjust the care and advice provided.

Physicians' communicative strategies in interacting with Internet-informed patients: results from a qualitative study.

This article describes the strategies used by physicians to interact with Internet-informed patients, alongside illustrating the motives underlying such strategies. Semistructured interviews were conducted with a sample of 17 physicians from primary care and medical specialist practices in the Italian part of Switzerland. The sample was diversified in terms of specialty, age, and gender. Data collection and analysis were driven by grounded theory and supported by a computer-assisted qualitative analysis program. A typology of four communicative strategies has been outlined. The adoption of these strategies is shaped by physicians' general attitude toward Internet-informed patients, based on their conception of medical information for lay people through the Internet. However, this general attitude is mediated by doctors' interpretation of the specific communicative context, that is, their appraisal of three aspects: the patient's health literacy, the relevance of the online information to be discussed, and their own communicative efficacy. At the end, the process of interpretation underlying the strategies is discussed to expand on it and to identify implications for practice and research.

Decision-making on COVID-19 vaccination: A qualitative study among health care and social workers caring for vulnerable individuals.

In January 2021, the Swiss government introduced the first COVID-19 vaccines and prioritized allocation to at-risk individuals and professionals working with them. Despite this opportunity, vaccine uptake among staff employed in retirement homes and institutes for people with disabilities was suboptimal. This study aimed to capture real-time decision-making about COVID-19 vaccine among staff employed in nursing homes and institutes for people with disabilities in Southern Switzerland. We conducted semi-structured phone-interviews with 25 staff employed in retirement homes and institutes for people with disabilities between February and May 2021, i.e., when participants had to decide whether they wanted to adhere to the priority vaccination programme. Among participants, 21 either signed up for the COVID-19 vaccination or were fully or partly vaccinated at the time of the interview. For most participants, the vaccination choice was a challenging process: information appeared to be lacking and conflicting; numerous moral principles were at stake and contradictory; the way vaccination was organized clashed with the health values to which respondents had been previously exposed; finally, the fear of discrimination for those who decided not to get vaccinated loomed over the vaccination choice. Participants decided for or against vaccination based on principles, traditions, emotions, and a reflexive assessment of the personal vs. collective benefit of the vaccination, the latter being the most common within the investigated sample. This study shows that deciding to get vaccinated against COVID-19 is a nuanced process and that individuals cannot simply be categorized as "novax" or "provax" based on their vaccination decision.

Joys or Sorrows of Parenting During the COVID-19 Lockdown: A Scoping Review.

Objectives: The aim of this scoping review was to map out the existing evidence of the impact of the COVID-19 lockdown on parents of children and adolescents. We sought to: 1) identify parenting domains that were particularly affected by lockdown measures, 2) describe the challenges and opportunities of lockdown measures in these domains, and 3) define protective and exacerbating factors modulating the effect of lockdown measures on parents. Methods: We identified five main domains investigated in the context of parenting during the early COVID-19 lockdown derived from 84 studies: health and wellbeing, parental role, couple functioning, family and social relationships, and paid and unpaid work. For each domain, we listed challenges and opportunities, as well as discriminant factors. Results: The lockdown impacted all five different but interconnected domains, introduced new roles in parents' lives, and particularly affected women and vulnerable populations. Conclusion: This scoping review highlights the importance of approaching public health policymaking from a social justice perspective. Such an approach argues for social and public health policies to promote health accounting for its social, economic, political, and commercial determinants.

The Communication Chain of Genetic Risk: Analyses of Narrative Data Exploring Proband-Provider and Proband-Family Communication in Hereditary Breast and Ovarian Cancer.

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.

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.

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.

Relatives from Hereditary Breast and Ovarian Cancer and Lynch Syndrome Families Forgoing Genetic Testing: Findings from the Swiss CASCADE Cohort.

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.

Home Treatment for Acute Mental Health Care: Protocol for the Financial Outputs, Risks, Efficacy, Satisfaction Index and Gatekeeping of Home Treatment (FORESIGHT) Study.

BACKGROUND: Crisis Resolution and Home Treatment (CRHT) teams represent a community-based mental health service offering a valid alternative to hospitalization. CRHT teams have been widely implemented in various mental health systems worldwide, and their goal is to provide care for people with severe acute mental disorders who would be considered for admission to acute psychiatric wards. The evaluation of several home-treatment experiences shows promising results; however, it remains unclear which specific elements and characteristics of CRHT are more effective and acceptable. OBJECTIVE: This study aims to assess the acceptability, effectiveness, and cost-effectiveness of a new CRHT intervention in Ticino, Southern Switzerland. METHODS: This study includes an interventional, nonrandomized, quasi-experimental study combined with a qualitative study and an economic evaluation to be conducted over a 48-month period. The quasi-experimental evaluation involves two groups: patients in the northern area of the region who were offered the CRHT service (ie, intervention group) and patients in the southern area of the region who received care as usual (ie, control group). Individual interviews will be conducted with patients receiving the home treatment intervention and their family members. CRHT members will also be asked to participate in a focus group. The economic evaluation will include a cost-effectiveness analysis. RESULTS: The project is funded by the Swiss National Science Foundation as part of the National Research Program NRP74 for a period of 48 months starting from January 2017. As of October 2021, data for the nonrandomized, quasi-experimental study and the qualitative study have been collected, and the results are expected to be published by the end of the year. Data are currently being collected for the economic evaluation. CONCLUSIONS: Compared to other Swiss CRHT experiences, the CRHT intervention in Ticino represents a unique case, as the introduction of the service is backed by the closing of one of its acute wards. The proposed study will address several areas where there are evidence gaps or contradictory findings relating to the home treatment of acute mental crisis. Findings from this study will allow local services to improve their effectiveness in a challenging domain of public health and contribute to improving access to more effective care for people with severe mental disorders. TRIAL REGISTRATION: ISRCTN registry ISRCTN38472626; https://www.isrctn.com/ISRCTN38472626. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): DERR1-10.2196/28191.

Genetic Literacy and Communication of Genetic Information in Families Concerned with Hereditary Breast and Ovarian Cancer: A Cross-Study Comparison in Two Countries and within a Timeframe of More Than 10 Years.

Examining genetic literacy in families concerned with hereditary breast and ovarian cancer (HBOC) helps understand how genetic information is passed on from individuals who had genetic counseling to their at-risk relatives. This cross-study comparison explored genetic literacy both at the individual and the family level using data collected from three sequential studies conducted in the U.S. and Switzerland over ≥10 years. Participants were primarily females, at-risk or confirmed carriers of HBOC-associated pathogenic variants, who had genetic counselling, and ≥1 of their relatives who did not. Fifteen items assessed genetic literacy. Among 1933 individuals from 518 families, 38.5% had genetic counselling and 61.5% did not. Although genetic literacy was higher among participants who had counselling, some risk factors were poorly understood. At the individual level, genetic literacy was associated with having counselling, ≤5 years ago, higher education, and family history of cancer. At the family level, genetic literacy was associated with having counselling, higher education, and a cancer diagnosis. The findings suggest that specific genetic information should be emphasized during consultations, and that at-risk relatives feel less informed about inherited cancer risk, even if information is shared within families. There is a need to increase access to genetic information among at-risk individuals.

Using a Tailored Digital Health Intervention for Family Communication and Cascade Genetic Testing in Swiss and Korean Families With Hereditary Breast and Ovarian Cancer: Protocol for the DIALOGUE Study.

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/. INTERNATIONAL REGISTERED REPORT IDENTIFIER (IRRID): PRR1-10.2196/26264.

Cardiac arrhythmias and rhabdomyolysis in Bartter-Gitelman patients.

Recent data demonstrate that patients affected with hypokalemic salt-losing tubulopathies are prone to acute cardiac arrhythmias and rhabdomyolysis. The tendency to these potentially fatal complications is especially high if chronic hypokalemia is severe, in patients with diarrhea, vomiting or a prolonged QT interval on standard electrocardiography, in patients on drug management with compounds prolonging the electrocardiographic QT interval (including antiarrhythmic agents, some antihistamines, macrolides, antifungals, psychotropics, beta2-adrenergic agonists or cisapride), following acute alcohol abuse and during exercise. Cardiac arrhythmias and rhabdomyolysis occur with sufficient frequency in hypokalemic salt-losing tubulopathies to merit wider awareness of their presence and the preparation of specific prevention and management recommendations.