A web-based platform promoting family communication and cascade genetic testing for families with hereditary breast and ovarian cancer (DIALOGUE study)

The overall aim of this dissertation is to develop an eHealth intervention to promote family communication and cascade genetic testing among families concerned with Hereditary Breast and Ovarian Cancer (HBOC) syndrome. Within this context an international, multi-centre scientific project entitled "DIALOGUE" was designed that aims to develop (Phase A), and test the feasibility (Phase B) of an intervention within various genetic clinics across Switzerland and South Korea. This dissertation describes only the Phase A, the adaptation of an intervention, a web-based platform designed for families with HBOC to share genetic test results, including usability testing in a sample from Switzerland. Chapter 1 provides a general introduction to the current field of hereditary cancer and cascade genetic testing, including the current state of eHealth technologies in science. The chapter also includes a short introduction to the prototype developed in the U.S.—as well as a description of the DIALOGUE study. In addition, the chapter summarises the main conceptual models, i.e. the Ottawa Decision Support Framework (ODSF) and the Medical Research Council (MRC) framework. These models are commonly implemented in the development and evaluation of complex interventions. The rational of this dissertation is guided by all of these elements. Chapter 2 provides a detailed description of the dissertation’s specific aims, including the three studies conducted. The articles presented in Chapter 3 describe the methodology and findings of the dissertation. Study I comprises a systematic literature review of previous studies, with a particular focus on HBOC and Lynch syndromes. The literature review identified and synthesised evidence from psychoeducational interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition and to promote cascade genetic testing. A meta-analysis was also conducted to assess intervention efficacy in relation to these two research aims. Our findings highlight the need to develop new interventions and approaches to family communication and cascade testing for cancer susceptibility. Study II describes the state-of-the-art text mining techniques used to detect and classify valuable information from interviews with study participants concerning determinants of open intrafamilial communication regarding genetic cancer risk. This study had two major aims: 1) to quantify openness of communication about HBOC cancer risk, and 2) to examine the role of sentiment in predicting openness of communication. Our findings showed that the overall expressed sentiment was associated with the communication of genetic risk among HBOC families. This analysis identified additional factors that affect openness to communicate genetic risk. These were defined as “high-risk” factors and integrated into the design and development of the intervention. Study III describes the development of the intervention, a web-based platform designed for families with HBOC to share genetic test results. The platform was developed in line with the quality criteria set by the MRC framework. Being web-based, the platform could be accessed via a laptop, smartphone or tablet. Usability testing was applied to evaluate the prototype intervention which received high ratings on a satisfaction scale. Chapter 4 synthesises and discusses the key findings of all the studies presented in the previous chapter, and addresses study limitations and implications for future research

Pneumococcal Vaccination Coverage and Uptake Among Adults in Switzerland: A Nationwide Cross-Sectional Study of Vaccination Records

Streptococcus pneumoniae, or pneumococcus, is a common, opportunistic pathogen which can cause severe disease, particularly in adults 65+. In Switzerland, vaccination is recommended for children under 5 and for adults with health predispositions; vaccination of healthy adults 65+ is not recommended. In 2020 we conducted a nationwide, cross-sectional survey of vaccination records to evaluate pneumococcal vaccination coverage and factors affecting uptake among adults 18-85. We found that nationwide coverage was 4.5% without significant regional differences. Coverage was comparable between men and women and between those aged 18-39 (3.0%) and 40-64 (3.2%). Coverage was significantly higher among those 65-85 (9.6%). While 2.7% of individuals reporting no health predisposition were vaccinated, 14.8% with asthma or chronic pulmonary disease, 27.1% with immunosuppression, 12.9% with diabetes, 11.6% with heart, liver, or kidney disease, and 25.9% with >1 health risk were vaccinated. Adjusted odds of vaccination for all health predispositions except heart, liver, or kidney disease were significantly increased. Among unvaccinated individuals "not enough information about the topic" and "not suggested by a doctor/healthcare provider" were the major reasons for abstaining from vaccination. Respondents reporting a health predisposition were significantly less likely to report "not at increased risk due to chronic health conditions or age" as a reason for not being vaccinated (3.7% vs. 29.1%) and were more likely to report willingness to be vaccinated in the future compared to those not-at-risk (54.2% vs. 39.9%). Our results indicate that pneumococcal vaccination coverage in Switzerland is low among both individuals 65-85 and among those with predisposing health risks. It appears that at-risk individuals are aware of their increased risk, but feel they do not have enough information on the topic to seek vaccination, or have not been recommended a vaccination by their physician

National and regional variations in timely adherence to recommended measles vaccination scheme in 2-years old in Switzerland, 2005–2019

BACKGROUND Although monitoring of vaccination program performance is usually evaluated by measurement of vaccine coverage, timely uptake is rarely part of this assessment. This study aims to examine the timeliness of the administration of a measles-containing-vaccine (MCV) for 2-year-old children between 2005 and 2019. METHODS We used data from the Swiss National Vaccination Coverage Survey 2005-2019 for the study. We defined timely vaccinated as a vaccination administered within the recommended age specified in the Swiss National Vaccination Schedule, with an added tolerance period of 30.4 days for both MCV 1 and 2 doses. The median delay time was estimated by Kaplan-Meier survival curve and examined using log-rank test. A Cox hazard ratio was used to identify factors associated with delay. RESULTS 81% (95% CI:79-82%) of toddlers were timely vaccinated for MCV1 and 82% (95% CI:81-83%) for MCV2 in survey period 2017-2019. Between 2005 and 2019, the median age of vaccinated children ranged between 12.2 and 12.5 and 18.3-22.0 months for MCV1 and MCV2 with median delay of 44 and 38 days, respectively, at the national level. Children in the French-, Italian- and German-speaking regions were vaccinated earlier between 2005 and 2019 for MCV1 (vaccination coverage range before 10 months of age: 1.7-45.9%, 1.2-35.3% and 1.4-15.0%, respectively). Nationality, linguistic regions, and survey periods were the strongest predictive factors related to prolonged delay time. CONCLUSION Overall adherence to recommendations has improved over time, as MCV coverage has significantly increased over the years with differences across linguistic regions. Vaccinations were administered earlier and with shorter delay time

The Ready-To-Go Questionnaire predicts health outcomes during travel: a smartphone application-based analysis

BACKGROUND The Ready-To-Go (R2G) Questionnaire is a tool for rapid assessment of health risks for travel consultation. This study aims to assess the utility of the R2G Questionnaire in identifying high-risk travellers and predicting health events and behaviour during travel in the TOURIST2 prospective cohort. METHODS TOURIST2 data were used to calculate the R2G medical and travel risk scores and categorize each participant based on their risk. The TOURIST2 study enrolled 1000 participants from Switzerland's largest travel clinics between 2017 and 2019. Participants completed daily smartphone application surveys before, during and after travel on health events and behaviours. We used regression models to analyse incidence of overall health events and of similar health events grouped into health domains (e.g. respiratory, gastrointestinal, accident/injury). Incidence rate ratios (IRR) are displayed with 95% confidence intervals (95% CI). RESULTS R2G high-risk travellers experienced significantly greater incidence of health events compared to lower-risk travellers (IRR = 1.27, 95% CI: 1.22-1.33). Both the medical and travel scores showed significant positive associations with incidence of health events during travel (IRR = 1.11, 95% CI: 1.07-1.16; IRR = 1.07, 95% CI: 1.03-1.12, respectively), with significant increases in all health domains except skin disorders. Medical and travel risk scores were associated with different patterns in behaviour. Travellers with chronic health conditions accessed medical care during travel more often (IRR = 1.16, 95% CI: 1.03-1.31), had greater difficulty in carrying out planned activities (IRR = -0.04, 95% CI: -0.05, -0.02), and rated their travel experience lower (IRR = -0.04, 95% CI: -0.06, -0.02). Travellers with increased travel-related risks due to planned travel itinerary had more frequent animal contact (IRR = 1.09, 95% CI: 1.01-1.18) and accidents/injuries (IRR = 1.28, 95% CI: 1.15-1.44). CONCLUSIONS The R2G Questionnaire is a promising risk assessment tool that offers a timesaving and reliable means to identify high-risk travellers. Incorporated into travel medicine websites, it could serve as a pre-consultation triage to help travellers self-identify their risk level, direct them to the appropriate medical provider(s), and help practitioners in giving more tailored advice

Analysis of Tick-borne Encephalitis vaccination coverage and compliance in adults in Switzerland, 2018

BACKGROUND Overall incidence and geographic range of Tick-borne Encephalitis (TBE), a vaccine preventable infection, have steadily increased in Switzerland over the last 50 years. While fully subsidized vaccination has been recommended in many areas for well over a decade, vaccine coverage and variables associated with vaccination compliance among Swiss adults are poorly understood. METHODS In 2018 we conducted a national, cross-sectional survey of vaccination cards evaluating TBE vaccination coverage and compliance among adults (18-79) in Switzerland. RESULTS Nationwide TBE vaccination coverage was 41.7% (range 14.3% to 60.3%) for 1 dose and 32.9% (range 8.4% to 50.4%) for a complete primary series (3 doses). There was a significant correlation between average disease incidence by canton (2009-2018) and vaccine coverage at both 1 and 3 doses. Of the overall population, 9.5% had received at least one TBE booster vaccination with large regional coverage variation. We estimated that 23% of adults in Switzerland would be protected from infection based on their vaccination history and 135 (95% CI: 112-162) TBE cases were prevented in 2018. Individuals reporting previous experience with tick-associated health problems, those frequently in nature or those with "high" perceived risk of contracting TBE, were significantly more likely to have received at least one vaccine dose, indicating a positive impact of awareness on vaccination compliance. We also calculated a TBE incidence rate of 6.83/100,000 among the unvaccinated adult population in Switzerland and estimated vaccine effectiveness at 91.5% (95% CI: 90.9-92.0%). CONCLUSIONS These findings provide an important reference for TBE vaccination levels in Switzerland and further suggest that public health interventions promoting knowledge of TBE health impacts and risk factors may be beneficial in improving TBE vaccination coverage but should be tailored to account for heterogeneity in vaccine uptake

A cross-sectional study evaluating tick-borne encephalitis vaccine uptake and timeliness among adults in Switzerland

The goal of this study was to evaluate timeliness of Tick-borne Encephalitis vaccination uptake among adults in Switzerland. In this cross-sectional survey, we collected vaccination records from randomly selected adults 18-79 throughout Switzerland. Of 4,626 participants, data from individuals receiving at least 1 TBE vaccination (n = 1875) were evaluated. We determined year and age of first vaccination and vaccine compliance, evaluating dose timeliness. Participants were considered "on time" if they received doses according to the recommended schedule ± a 15% tolerance period. 45% of participants received their first TBE vaccination between 2006 and 2009, which corresponds to a 2006 change in the official recommendation for TBE vaccination in Switzerland. 25% were first vaccinated aged 50+ (mean age 37). More than 95% of individuals receiving the first dose also received the second; ~85% of those receiving the second dose received the third. For individuals completing the primary series, 30% received 3 doses of Encepur, 58% received 3 doses of FSME-Immun, and 12% received a combination. According to "conventional" schedules, 88% and 79% of individuals received their second and third doses "on time", respectively. 20% of individuals receiving Encepur received their third dose "too early". Of individuals completing primary vaccination, 19% were overdue for a booster. Among the 31% of subjects receiving a booster, mean time to first booster was 7.1 years. We estimate that a quarter of adults in Switzerland were first vaccinated for TBE aged 50+. Approximately 80% of participants receiving at least one vaccine dose completed the primary series. We further estimate that 66% of individuals completing the TBE vaccination primary series did so with a single vaccine type and adhered to the recommended schedule

Interventions Facilitating Family Communication of Genetic Testing Results and Cascade Screening in Hereditary Breast/Ovarian Cancer or Lynch Syndrome: A Systematic Review and Meta-Analysis

Evidence-based guidelines recommend cascade genetic testing of blood relatives of known Hereditary Breast and Ovarian Cancer (HBOC) or Lynch Syndrome (LS) cases, to inform individualized cancer screening and prevention plans. The study identified interventions designed to facilitate family communication of genetic testing results and/or cancer predisposition cascade genetic testing for HBOC and LS. We conducted a systematic review and meta-analysis of randomized trials that assessed intervention efficacy for these two outcomes. Additional outcomes were also recorded and synthesized when possible. Fourteen articles met the inclusion criteria and were included in the narrative synthesis and 13 in the meta-analysis. Lack of participant blinding was the most common risk of bias. Interventions targeted HBOC (; n =; 5); both HBOC and LS (; n =; 4); LS (; n =; 3); or ovarian cancer (; n =; 2). All protocols (; n =; 14) included a psychoeducational and/or counseling component. Additional components were decision aids (; n =; 4), building communication skills (; n =; 4), or motivational interviewing (; n =; 1). The overall effect size for family communication was small (; g =; 0.085) and not significant (; p =; 0.344), while for cascade testing, it was small (; g =; 0.169) but significant (; p =; 0.014). Interventions show promise for improving cancer predisposition cascade genetic testing for HBOC and LS. Future studies should employ family-based approaches and include racially diverse samples

Pneumococcal Vaccination Coverage and Uptake Among Adults in Switzerland: A Nationwide Cross-Sectional Study of Vaccination Records

Streptococcus pneumoniae, or pneumococcus, is a common, opportunistic pathogen which can cause severe disease, particularly in adults 65+. In Switzerland, vaccination is recommended for children under 5 and for adults with health predispositions; vaccination of healthy adults 65+ is not recommended. In 2020 we conducted a nationwide, cross-sectional survey of vaccination records to evaluate pneumococcal vaccination coverage and factors affecting uptake among adults 18-85. We found that nationwide coverage was 4.5% without significant regional differences. Coverage was comparable between men and women and between those aged 18-39 (3.0%) and 40-64 (3.2%). Coverage was significantly higher among those 65-85 (9.6%). While 2.7% of individuals reporting no health predisposition were vaccinated, 14.8% with asthma or chronic pulmonary disease, 27.1% with immunosuppression, 12.9% with diabetes, 11.6% with heart, liver, or kidney disease, and 25.9% with >1 health risk were vaccinated. Adjusted odds of vaccination for all health predispositions except heart, liver, or kidney disease were significantly increased. Among unvaccinated individuals “not enough information about the topic” and “not suggested by a doctor/healthcare provider” were the major reasons for abstaining from vaccination. Respondents reporting a health predisposition were significantly less likely to report “not at increased risk due to chronic health conditions or age” as a reason for not being vaccinated (3.7% versus 29.1%) and were more likely to report willingness to be vaccinated in the future compared to those not-at-risk (54.2% versus 39.9%). Our results indicate that pneumococcal vaccination coverage in Switzerland is low among both individuals 65-85 and among those with predisposing health risks. It appears that at-risk individuals are aware of their increased risk, but feel they do not have enough information on the topic to seek vaccination, or have not been recommended a vaccination by their physician

TOURIST2 – Tracking of urgent risks in swiss travellers to the 6 main travel destinations – Feasibility and ethical considerations of a smartphone application-based study

Background The adoption of mHealth technology in travel medicine is a relatively new and unexplored field. We have further developed a TRAVEL application (app) for real-time data monitoring during travel. In this manuscript we report on the feasibility using this new app in a large and diverse cohort of travellers to three continents. Methods We enrolled 1000 participants from the travel clinics of Zurich and Basel, Switzerland, aged ≥18 years, travelling to Thailand, India, China, Tanzania, Brazil and Peru between 09/2017–01/2019. Participants included healthy travellers, individuals with pre-existing chronic diseases and elderly travellers (≥60 years). Participants completed an app-based daily survey on risk behaviours/health incidents pre-, during and after travel. Simultaneously, GPS locations were tightly collected and linked to environmental data. Results 793 (79%) travellers answered at least one questionnaire during their trip. Participants’ median age was 34 years (range 18–84 years); 8% were aged ≥60 years; 55% female; 32% had pre-existing chronic diseases. Completion rates were similar in younger and elderly travellers and in those with and without pre-existing diseases. Conclusions The use of a smartphone app is a feasible method for collecting behavioural and health data in elderly travellers and individuals with chronic diseases travelling to three continents

Travel behaviours and health outcomes during travel: Profiling destination-specific risks in a prospective mHealth cohort of Swiss travellers

Background We used a mobile application to determine the incidence of health events and risk behaviours during travel by country and identify which health risks are significantly elevated during travel compared with at home. Method TOURIST2 is a prospective cohort study of 1000 adult travellers from Switzerland to Thailand, India, China, Tanzania, Brazil and Peru, planning travel of ≤4 weeks between 09/2017 and 04/2019. The incidence rate ratio (IRR) in each country was calculated. Results All countries had significantly higher incidence of health events than at home. The most elevated symptoms were sunburn, itching from mosquitoes, and gastrointestinal disorders (e.g. vomiting, diarrhoea), corresponding with universally high food/drink risk behaviours. Peru had the highest incidence of both overall negative health events and severe health events (172.0/1000 travel-days). Traffic accidents were significantly higher in Peru (IRR: 2.4, 1.2, 4.7), although incidence of transportation risk was highest in India and Thailand. In Tanzania, incidence of negative mental health events was significantly lower than at home, although it was elevated in other countries. Sexual risk behaviours were high in Brazil. Conclusions Our study improves the understanding of the non-infectious disease related health challenges travellers face and provides evidence for more personalised traveller support