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Prof. Dr. med. Nicole Probst Hensch

Department of Public Health
Profiles & Affiliations

Projects & Collaborations

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The CASCADE II Study: use of genetic information to guide cancer surveillance for hereditary breast/ovarian cancer and Lynch syndrome in Switzerland

Research Project  | 17 Project Members

Several hundred cancer patients in Switzerland carry pathogenic germline variants associated with hereditary breast/ovarian cancer (HBOC) and Lynch syndrome (LS). HBOC and LS cases are at significantly higher risk of primary and secondary cancers and need lifelong cancer surveillance and access to different risk management options. Their close blood relatives have 12.5%-50% probability of inheriting the respective cancer predisposition and need access to genetic evaluation. European-based studies suggest that most cancer patients with hereditary cancer syndromes are not identified and do not receive adequate cancer surveillance. Most evidence comes from cross-sectional studies; there is little available information about changes in adherence to surveillance over time. Little is known about how genetic test results affect subsequent surveillance for HBOC and LS cases and blood relatives, and the overall response of the Swiss healthcare system to mutation carriers' and relatives' needs for long-term surveillance and cancer prevention.


CASCADE II will collect prospective three-year data from confirmed mutation carriers and blood relatives to examine how cancer surveillance practices, uptake of risk management options, and access to genetic services (for untested relatives) change over time. Specific Aim 1: Monitor changes over time in cancer status, surveillance practices, uptake of risk management options, and uptake of genetic testing (for previously untested relatives), and explore whether there are differences in occurrence of these events (or cumulative incidence of events) during the follow-up period among the different participant groups.


Specific Aim 2: Examine the predictive value of individual domain clusters (e.g., cancer status), interpersonal domain clusters (e.g., family environment), and healthcare system domain clusters (e.g., provider specialty) on cancer surveillance practices, uptake of risk management options, and uptake of genetic testing (for previously untested relatives). Specific Aim 3: Explore participants' preferences for the role and involvement of healthcare providers in organization of cancer surveillance and follow-up care.


Longitudinal data from the CASCADE cohort, a prospective, family-based cohort targeting HBOC and LS confirmed cases and blood relatives will address these aims. CASCADE uses surveys to assess cancer status, surveillance, management of hereditary cancer risk, and coordination of care, covering multi-level factors affecting cancer prevention and survivorship. Data from the CASCADE I and CASCADE II studies span a period of over 6 years and 4 data collection points, each approximately 18 months apart, for participants entering the cohort since its initiation. Recruitment takes place in oncology and/or genetic testing centres in three linguistic regions of Switzerland.


Longitudinal survey data will address Aims 1 and 2. We will use Kaplan-Meier analyses and multivariate and/or multi-level Cox Proportional Hazards models to regress "cancer surveillance" event and "use of genetic services" event on predictors. Exploratory factor analyses and hierarchical cluster analyses will generate domain clusters for participants.


Narrative data (focus groups and interviews) from selected participants to present diverse perspectives, triangulated with survey data, will address Aim 3. Data from the CASCADE cohort have considerable potential to enhance the development of high-quality comprehensive support systems to improve cancer surveillance and access to genetic specialists and coordination of cancer care services in Switzerland.

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Projektevaluation: Prävention psychosozialer Belastungsfolgen in der Somatik: ein Modellprojekt zur kollaborativen Versorgung (SomPsyNet)

Research Project  | 6 Project Members

Evaluation des Projekts: Prävention psychosozialer Belastungsfolgen in der Somatik: ein Modellprojekt zur kollaborativen Versorgung (SomPsyNet)


Das durch Gesundheitsförderung Schweiz finanzierte Projekt wurde durch eine Evaluation begleitet. Das Ziel dieser war, die von Gesundheitsförderung Schweiz vorgegebenen Evaluationsbereiche (Konzept, Input, Umsetzung, Output, Outcome Multiplikatoren, Outcome Patient:innen, Impact) abzudecken. Das Vorgehen orientierte sich am Dokument «Wirkungsevaluation von Interventionen» von Gesundheitsförderung Schweiz. Die Evaluationstätigkeiten fanden im Zeitraum Januar 2020 bis Dezember 2023 statt und es wurden verschiedene Methoden verwendet. Die Konzept, Input, Umsetzung und Output-Evaluation, beinhaltete eine Kostenanalyse, sowie zwei Serien von Interviews beim Spitalpersonal zur Wahrnehmung der Situation von psychosozialen Belastungen bei somatischen Patient:innen sowie Erfolgsfaktoren und Hindernisse bei der Umsetzung des SCCMs. Der Outcome wurde durch eine On-line Umfrage bei rund 100 in das SCCM involvierten Personen erfasst. Des Weiteren, wurde die Wirksamkeit (Outcome sowie Impact) mittels einer Stepped Wedge-Studie, die unter der Verantwortlichkeit des Projekträgers stand, bewertet. Die Studie evaluierte unter anderem, Veränderung der Lebensqualität von somatischen Patienten mit PB/PS sowie die Auswirkungen auf die monatlichen Behandlungskosten von Patient:innen mit psychosozialer Belastung.

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Swiss-PROMPT Swiss Personalized Breast Cancer Risk Prediction study

Research Project  | 5 Project Members

Hintergrund: Breast cancer affects about 12% of Swiss women. Predictive models are important in personalized medicine because they contribute to early identification of high-risk individuals, which in turn facilitates stratification of preventive interventions and individualized clinical management. However, existing models have limited discriminatory accuracy (0.6-0.7) and do not include some non-modifiable and modifiable breast cancer risk factors, e.g., mammography density and obesity. Zielsetzung: The purpose of the study is to provide clinical decision support for accurate, reproducible, and more reliable individualized forecasting of the absolute risk for breast cancer compared to currently used models e.g., Gail model and Breast and Ovarian Analysis of Disease Incidence and Carrier Estimation Algorithm (BOADICEA). Design / Methode: We employed six different model-free machine-learning methods to predict absolute risk of breast cancer. Using independent training and testing data we quantified and compared the performance of machine-learning methods to the performance of the Gail model and BOADICEA using the following datasets (1) simulated, with no signal; (2) simulated, with artificial signal; (3) a random population-based sample of US breast cancer patients and their cancer-free female relatives (N=1232); and (4) a clinic-based sample of Swiss breast cancer patients and cancer-free women seeking genetic evaluation and/or testing at the Geneva University Hospitals (N=1700). Managing the massive, multi-source, incongruent and heterogeneous data includes data harmonization, model-free predictive analytics, and quantitative comparison of forecasting reliability. Erwarteter Nutzen / Relevanz (z.B. für Public Health): Advanced data-processing protocols are powerful tools to forecast personalized breast cancer risk and can help develop new and updated predictive models specified for Swiss women.

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CASCADE - Cancer predisposition cascade genetic screening for Hereditary Breast and Ovarian Cancer and Lynch Syndrome in Switzerland

Research Project  | 17 Project Members

Background: Breast, colorectal, ovarian, and endometrial cancers constitute approximately 30% of newly diagnosed cancer cases in Switzerland, affecting more than 12,000 individuals annually. Hundreds of these patients are likely to carry germline pathogenic variants associated with hereditary breast ovarian cancer (HBOC) or Lynch syndrome (LS). Genetic services (counseling and testing) for hereditary susceptibility to cancer can prevent many cancer diagnoses and deaths through early identification and risk management. Objective: Cascade screening is the systematic identification and testing of relatives of a known mutation carrier. It determines whether asymptomatic relatives also carry the known variant, needing management options to reduce future harmful outcomes. Specific aims of the CASCADE study are to (1) survey index cases with HBOC or LS from clinic-based genetic testing records and determine their current cancer status and surveillance practices, needs for coordination of medical care, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to serve as advocates for cancer genetic services to blood relatives, (2) survey first- and second-degree relatives and first-cousins identified from pedigrees or family history records of HBOC and LS index cases and determine their current cancer and mutation status, cancer surveillance practices, needs for coordination of medical care, barriers and facilitators to using cancer genetic services, psychosocial needs, patient-provider and patient-family communication, quality of life, and willingness to participate in a study designed to increase use of cancer genetic services, and (3) explore the influence of patient-provider communication about genetic cancer risk on patient-family communication and the acceptability of a family-based communication, coping, and decision support intervention with focus group(s) of mutation carriers and relatives. Methods: CASCADE is a longitudinal study using surveys (online or paper/pencil) and focus groups, designed to elicit factors that enhance cascade genetic testing for HBOC and LS in Switzerland. Repeated observations are the optimal way for assessing these outcomes. Focus groups will examine barriers in patient-provider and patient-family communication, and the acceptability of a family-based communication, coping, and decision-support intervention. The survey will be developed in English, translated into three languages (German, French, and Italian), and back-translated into English, except for scales with validated versions in these languages. Results: Descriptive analyses will include calculating means, standard deviations, frequencies, and percentages of variables and participant descriptors. Bivariate analyses (Pearson correlations, chi-square test for differences in proportions, and t test for differences in means) will assess associations between demographics and clinical characteristics. Regression analyses will incorporate generalized estimating equations for pairing index cases with their relatives and explore whether predictors are in direct, mediating, or moderating relationship to an outcome. Focus group data will be transcribed verbatim and analyzed for common themes. Conclusions: Robust evidence from basic science and descriptive population-based studies in Switzerland support the necessity of cascade screening for genetic predisposition to HBOC and LS. CASCADE is designed to address translation of this knowledge into public health interventions. Trial Registration: ClinicalTrials.gov NCT03124212; https://clinicaltrials.gov/ct2/show/NCT03124212 (Archived by WebCite at http://www.webcitation.org/6tKZnNDBt)

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Transportation noise, annoyance, sleep and cardiometabolic risk: an integrated approach on short- and long-term effects

Research Project  | 4 Project Members

Background: Little is known about how acute and short-term noise effects, especially those that are observed during sleep, translate into long-term health consequences. In particular, it is unclear which acoustical characteristics of noise from different sources are most detrimental for human health and wellbeing. Aims: The overall goal of this project is to investigate the acute, short- and long-term effects of road, railway and aircraft noise exposure on annoyance and coping responses, sleep disturbances and cardiometabolic risk by mutually combining human experimental research in the laboratory with population-based epidemiological methods. The project specifically aims at identifying the noise exposure patterns that most strongly affect individuals during sleep and that may result in long-term health consequences, in particular, in cardiovascular diseases and metabolic syndrome. Besides the effect of noise exposure, the role of individual characteristics such as age and gender, noise sensitivity and genetic predispositions will be elucidated. Methods: This interdisciplinary study consists of three sub-projects. Sub-project 1 focuses on the modelling of road, railway and aircraft noise exposure and its effects on annoyance and coping responses in the Swiss population. Exposure modelling will be considerably refined to reflect not only average exposure, but additional exposure characteristics such as the degree of intermittence of noise events that we hypothesise to be a relevant predictor of detrimental effects of noise during sleep. Furthermore, realistic transportation noise exposure scenarios will be compiled in Sub-project 1 and played back in sleep laboratory experiments in Sub-project 2. In Sub-project 2 acute (e.g. awakening reactions) and short-term (e.g. cardiometabolic and cognitive effects on the subsequent day) consequences of nocturnal noise exposure scenarios will be investigated in a well controlled environment by employing a counterbalanced randomised cross-over design with 48 volunteers constantly monitored during 6 nights and 5 days. In Sub-project 3 data of two on-going large SNF-funded population-based epidemiological studies (SAPALDIA biobank and Swiss National Cohort) will be used to investigate long-term cardiometabolic risk with high statistical power and by considering relevant co-factors. The three Sub-projects are designed to closely interact in an interdisciplinary manner. Sub-project 1 will provide the noise exposure scenarios and exposure set-up for Sub-project 2 and the exposure modelling for Sub-project 3. The same cardiometabolic outcomes of Sub-project 3 available from several thousand SAPALDIA study participants will also be collected in Sub-project 2 with high time resolution under controlled experimental conditions. Significance: Mutually combining human experimental and epidemiological research to systematically address acute, short- and long-term noise effects on sleep and cardiometabolic outcomes is an asset of this study and has rarely been done in noise effect research before. Experimental research allows for evaluating the effects of well defined acoustical noise exposure scenarios in a controlled environment on carefully selected, representative individuals. The use of ongoing large-scale population-based epidemiologic studies enables cost-efficiently addressing the full range of variability in the population and in exposure circumstances that occur in our environment. This will be the first study on transportation noise effects that considers genetic variations, which will provide a better understanding of relevant biological pathways. Systematic consideration of transportation noise exposure levels as well as other noise characteristics, such as the distribution of noise events during the night, is a unique feature of this project and is highly relevant for adequate regulation of noise emissions of different transportation modes. It is estimated that Switzerland, by about 2020, will have invested a substantial >5 billion Swiss francs in noise abatement measures. Thus, beyond scientific there is a high policy interest in our research questions and the results of this project are expected to have a broad impact by revealing evidence-based measures of action in order to most effectively invest these resources.

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Physical activity as a life style component of aggressive decrease of atherosclerotic modifiers (ADAM) in elderly subjects: the SAPALIDA Cohort Study

Research Project  | 3 Project Members

This proposal outlines a research program of a large nested study of the third part of the S wiss Cohort Study on A ir P ollution a nd L ung and Heart D iseases i n A dults (SAPALDIA 3) including 3026 subjects. The research program seeks (i) to evaluate the measuring characteristics of the new cardio-ankle vascular index (CAVI) as a measurement tool of arterial stiffness for the first time in a Caucasian cohort and (ii) to analyse the association between PA as a preventive life style component of aggressive decrease of atherosclerotic modifiers (ADAM) and cardiovascular disease (CVD) in this Caucasian clientele. Cardiovascular diseases constitute a major worldwide health problem, upon which the bigger part of death causes are attributed to. Cardiovascular health issues are closely related to long-term asymptomatic changes of the vasculature in terms of arteriosclerosis and, especially, atherosclerosis as its major condition. Starting point of these alterations are vessel stiffening processes, for which reason arterial stiffness is an early, subclinical marker of potentially grave cardiovascular modifications. CAVI's beneficial characteristic is the lower correlation with blood pressure (BP) fluctuations during investigations compared to other arterial stiffness measurements. Therefore, CAVI as a non-invasive, easy-to-apply technique may present a highly useful clinical tool for cardiovascular risk stratification and evidence-based treatment procedures at an early stage. In order to evaluate the potential usefulness of CAVI in Caucasians this research project targets three specific aims. At first this study aims at determining CAVI's measuring characteristics so as to lay the basis for serial clinical application of CAVI in Caucasian populations. This will be performed by scrutinizing CAVI's reproducibility, its dependency on blood pressure (BP) and the correlation with carotid intima-media thickness (CIMT), a traditional ultrasonographic marker of atherosclerosis reliability and validity in the SAPALDIA 3 cohort. All the named has not been shown for Caucasian people before, which is a prerequisite for the clinical application in these subjects. Within the second and third aim of the research project CAVI will be implemented for stratifying the cardiovascular risk based on physical inactivity. During the data collection of SAPALDIA 3 the International Physical Activity Questionnaire (IPAQ) has been consulted to classify the subjects' physical activity (PA), which is regarded as an important health promotion measure with protective impact on the cardiovascular system and, thus, as one component of ADAM. Therefore, CAVI will be analysed across groups of different physical activity patterns in the SAPALDIA 3 cohort. In this context the question, whether a sedentary lifestyle is associated with increased CAVI values is of particular relevance. Up-to-date there exists no comparable cohort in which a measure of arterial stiffness may be analysed in association with a detailed questionnaire of PA like the IPAQ. Furthermore, this project implies the unique and worldwide first chance to study changes of PA in association with CAVI measurement over a time period of several years like between SAPALDIA 2 and SAPALDIA 3. Differences of arterial stiffness in association with changes in PA ranking from SAPALDIA 2 to SAPALDIA 3 over a reasonable time span of nine years may strengthen PA recommendations in middle-aged and elderly with respect to the prevention of manifest cardiovascular disease. Consequently, a systematic study is proposed, which tends to establish CAVI for cardiovascular risk group evaluations like physically inactive people. Because of CAVI having specific significance for examinations of asymptomatic subjects the herewith obtained cohort study results may lead to improvements of early stage diagnosis and treatment of cardiovascular disease including guidelines for appropriate PA.

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SAPALDIA 3 - Swiss Cohort Study on Air Pollution and Lung and Heart Diseases in Adults

Research Project  | 12 Project Members

Objective: the SAPALDIA study is a multi-center study in eight geographic areas representing the range of environmental, meteorological and socio-demographic conditions of Switzerland. Summary of measurements: in 1991, 9'651 subjects, aged 18 to 60 years, were recruited for detailed interview and more than 90% of them underwent lung function and allergy testing. During a first follow-up, in 2002, 8'047 (83%) provided health information, 6'528 underwent physical re-examination, and 6'345 provided blood samples. Subjects aged 50 or older had 24h monitoring of electrocardiogram to assess for heart rate variability, a sensitive parameter of cardio-vascular health. In 2010, a second follow-up was launched, and will be completed by July 2011. In addition to repeated interviews and measurements, a large subsample of the paricipants undergoes measurement of the thickness of their carotids as well as measurement of pulse wave velocity, a reflection of the state of their arteries. Their also complete extensive questionnaires on health care utilization, level of physical exercise, and the type of food they are eating. Since 1991 SAPALDIA has also been carefully following address histories of the participants. Based on actual measurements of fine particles and gaseous pollutants, it was possible through validated calculations to ascribe to each participant of the cohort the level of pollution at his/her home address and its variation over the years. Results: they allowed to assess for prevalence and development of major respiratory and allergic diseases in the Swiss population, as well as age-related decline in lung function. Then it was possible to study the association of these health indicators as well as heart rate variability with individual long term exposure to air pollution, other toxic inhalants, life style and molecular factors. The bio-bank has allowed studies on the association between some genetic profiles (gene polymorphism) and the propensity to develop asthma, allergic diseases, or accelerated lung function decline with age. SAPALDIA has numerous collaborations with research groups dealing with similar population cohorts. Signification: ongoing studies are focusing on gene-environment interactions a crucial question to understand why some persons suffer more from the effect of air pollution than others. Furthermore, beyond the effects of air pollution, the current studies will provide important information on the occurrence of chronic cardio-respiratory diseases in general as a result of interrelations between life style, environment, socio-demographics, gender and genetic susceptibility.