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The app-based COVID Symptom Study was launched in Sweden in April 2020 to contribute to real-time COVID-19 surveillance. We enrolled 143,531 study participants (≥18 years) who contributed 10.6 million daily symptom reports between April 29, 2020 and February 10, 2021. Here, we include data from 19,161 self-reported PCR tests to create a symptom-based model to estimate the individual probability of symptomatic COVID-19, with an AUC of 0.78 (95% CI 0.74-0.83) in an external dataset. These individual probabilities are employed to estimate daily regional COVID-19 prevalence, which are in turn used together with current hospital data to predict next week COVID-19 hospital admissions. We show that this hospital prediction model demonstrates a lower median absolute percentage error (MdAPE: 25.9%) across the five most populated regions in Sweden during the first pandemic wave than a model based on case notifications (MdAPE: 30.3%). During the second wave, the error rates are similar. When we apply the same model to an English dataset, not including local COVID-19 test data, we observe MdAPEs of 22.3% and 19.0% during the first and second pandemic waves, respectively, highlighting the transferability of the prediction model., (© 2022. The Author(s).)

Biobanking and BioMolecular resources Research Infrastructure (BBMRI)- European Research Infrastructure Consortium (ERIC) is the largest infrastructure launched in Europe in health research. By nature it is a distributed infrastructure, in which biological samples and data are hosted by the European Member States biobanks. As of today, BBMRI-ERIC consists of 19 European Member States and 1 international organization, the International Agency for Research on Cancer. This means that BBMRI-ERIC has a population of >500 million individuals in Europe. BBMRI-ERIC is a truly Pan-European Research Infrastructure for health research. Given that BBMRI-ERIC is set up to become a key source for users in both academic and scientific institutions as well as in the pharmaceutical and life science industries, it contributes directly to the Innovation Union concept. It is pan-European because BBMRI-ERIC already shows an excellent geographic and regional coverage all over Europe involving countries from South, East, West, North, and Central Europe. BBMRI-ERIC is a service-driven infrastructure for the European Member States, driven by science. The BBMRI-ERIC Directory consists of 100 million samples and a roadmap for better-defined quality in European biobanks for improving reproducibility and reliability of the biological sample and data.

The known challenge of underutilization of data and biological material from biorepositories as potential resources for medical research has been the focus of discussion for over a decade. Recently developed guidelines for improved data availability and reusability-entitled FAIR Principles (Findability, Accessibility, Interoperability, and Reusability)-are likely to address only parts of the problem. In this article, we argue that biological material and data should be viewed as a unified resource. This approach would facilitate access to complete provenance information, which is a prerequisite for reproducibility and meaningful integration of the data. A unified view also allows for optimization of long-term storage strategies, as demonstrated in the case of biobanks. We propose an extension of the FAIR Principles to include the following additional components: (1) quality aspects related to research reproducibility and meaningful reuse of the data, (2) incentives to stimulate effective enrichment of data sets and biological material collections and its reuse on all levels, and (3) privacy-respecting approaches for working with the human material and data. These FAIR-Health principles should then be applied to both the biological material and data. We also propose the development of common guidelines for cloud architectures, due to the unprecedented growth of volume and breadth of medical data generation, as well as the associated need to process the data efficiently.

Objective: We provide an e-Science perspective on the workflow from risk factor discovery and classification of disease to evaluation of personalized intervention programs. As case studies, we use personalized prostate and breast cancer screenings., Materials and Methods: We describe an e-Science initiative in Sweden, e-Science for Cancer Prevention and Control (eCPC), which supports biomarker discovery and offers decision support for personalized intervention strategies. The generic eCPC contribution is a workflow with 4 nodes applied iteratively, and the concept of e-Science signifies systematic use of tools from the mathematical, statistical, data, and computer sciences., Results: The eCPC workflow is illustrated through 2 case studies. For prostate cancer, an in-house personalized screening tool, the Stockholm-3 model (S3M), is presented as an alternative to prostate-specific antigen testing alone. S3M is evaluated in a trial setting and plans for rollout in the population are discussed. For breast cancer, new biomarkers based on breast density and molecular profiles are developed and the US multicenter Women Informed to Screen Depending on Measures (WISDOM) trial is referred to for evaluation. While current eCPC data management uses a traditional data warehouse model, we discuss eCPC-developed features of a coherent data integration platform., Discussion and Conclusion: E-Science tools are a key part of an evidence-based process for personalized medicine. This paper provides a structured workflow from data and models to evaluation of new personalized intervention strategies. The importance of multidisciplinary collaboration is emphasized. Importantly, the generic concepts of the suggested eCPC workflow are transferrable to other disease domains, although each disease will require tailored solutions., (© The Author 2017. Published by Oxford University Press on behalf of the American Medical Informatics Association.)

Competing Interests: Author Disclosure Statement No conflicting financial interests exist.

Biobanks are the biological back end of data-driven medicine, but lack standards and generic solutions for interoperability and information harmonization. The move toward a global information infrastructure for biobanking demands semantic interoperability through harmonized services and common ontologies. To tackle this issue, the Minimum Information About BIobank data Sharing (MIABIS) was developed in 2012 by the Biobanking and BioMolecular Resources Research Infrastructure of Sweden (BBMRI.se). The wide acceptance of the first version of MIABIS encouraged evolving it to a more structured and descriptive standard. In 2013 a working group was formed under the largest infrastructure for health in Europe, Biobanking and BioMolecular Resources Research Infrastructure (BBMRI-ERIC), with the remit to continue the development of MIABIS (version 2.0) through a multicountry governance process. MIABIS 2.0 Core has been developed with 22 attributes describing Biobanks, Sample Collections, and Studies according to a modular structure that makes it easier to adhere to and to extend the standard. This integration standard will make a great contribution to the discovery and exploitation of biobank resources and lead to a wider and more efficient use of valuable bioresources, thereby speeding up the research on human diseases. Many within the European Union have accepted MIABIS 2.0 Core as the "de facto" biobank information standard.

A wealth of biospecimen samples are stored in modern globally distributed biobanks. Biomedical researchers worldwide need to be able to combine the available resources to improve the power of large-scale studies. A prerequisite for this effort is to be able to search and access phenotypic, clinical and other information about samples that are currently stored at biobanks in an integrated manner. However, privacy issues together with heterogeneous information systems and the lack of agreed-upon vocabularies have made specimen searching across multiple biobanks extremely challenging. We describe three case studies where we have linked samples and sample descriptions in order to facilitate global searching of available samples for research. The use cases include the ENGAGE (European Network for Genetic and Genomic Epidemiology) consortium comprising at least 39 cohorts, the SUMMIT (surrogate markers for micro- and macro-vascular hard endpoints for innovative diabetes tools) consortium and a pilot for data integration between a Swedish clinical health registry and a biobank. We used the Sample avAILability (SAIL) method for data linking: first, created harmonised variables and then annotated and made searchable information on the number of specimens available in individual biobanks for various phenotypic categories. By operating on this categorised availability data we sidestep many obstacles related to privacy that arise when handling real values and show that harmonised and annotated records about data availability across disparate biomedical archives provide a key methodological advance in pre-analysis exchange of information between biobanks, that is, during the project planning phase.

BBMRI-ERIC, the Biobanking and BioMolecular Resources Research Infrastructure-European Research Infrastructure Consortium, is a new form of umbrella organization for biobanking in Europe. For rare and common diseases alike, it aims at providing fair access to quality-controlled human biological samples and associated biomedical and biomolecular data. Such access enables basic mechanisms underlying diseases to be studied, which is indispensable for the development of new biomarkers and drugs. In the context of the European Research Area (ERA), biobanks, which were identified as a particular European strength, contribute to Europe's cohesion policy through capacity-building in the BBMRI-ERIC member countries.

In this News & Reviews Discussion, the recently launched EuPA (European Proteomics Association) Biobank Initiative is introduced in the context of current and future challenges in biobanking. The purpose of the initiative is to provide a forumand knowledge platform for integrating the extensive experiences collected by the EuPA community, and link it to the European and international biobanking communities at large. The specific impact of providing a forum and easy access to this type of information to the EuPA community is the potential of improving the quality of future sample collections and biobanks, the quality of the research produced from these sample collections, as well as the output and productivity from existing biobanks. The underutilization of biobanks has recently been identified as an emerging issue of biobankingworldwide. Measures to improve our ability to locate and access appropriate sample collections for a wide range of research purposes may enhance both the scientific quality and biobank sustainability, thereby contributing to the important task of moving our research beyond basic findings and mere publications, into clinical practice., Biological Significance: This manuscript is intended as a Discussion piece, and represents a recollection of the presentation under the “EuPA Initiative” session at HUPO/EuPA 2014 in Madrid. The launch of the EuPA (European Proteomics Association) Biobank Initiative in the context of current and future challenges in biobanking is discussed. The purpose of the initiative is to provide a forum and knowledge base for integrating the extensive experiences collected by the EuPA community, and link it to the European and international biobanking communities at large. The specific impact of providing a forumand easy access to this type of information to the EuPA community is the potential of improving the quality of future sample collections and biobanks, the quality of the research produced from these sample collections, aswell as the output and productivity fromexisting biobanks. The underutilization of biobanks has recently been identified as a challenge to the well-being and economic sustainability of biobanking worldwide. Measures to improve our ability to localize and access appropriate sample collections for validation studies and other research purposes is thus of benefit bothto scientific quality and biobank sustainability, thereby contributing to the important task of moving our research beyond basic findings and mere publications, into clinical practice. This article is part of a Special Issue entitled: HUPO 2014.

Biological resources (cells, tissues, bodily fluids or biomolecules) are considered essential raw material for the advancement of health-related biotechnology, for research and development in life sciences, and for ultimately improving human health. Stored in local biobanks, access to the human biological samples and related medical data for transnational research is often limited, in particular for the international life science industry. The recently established pan-European Biobanking and BioMolecular resources Research Infrastructure-European Research Infrastructure Consortium (BBMRI-ERIC) aims to improve accessibility and interoperability between academic and industrial parties to benefit personalized medicine, disease prevention to promote development of new diagnostics, devices and medicines. BBMRI-ERIC is developing the concept of Expert Centre as public-private partnerships in the precompetitive, not-for-profit field to provide a new structure to perform research projects that would face difficulties under currently established models of academic-industry collaboration. By definition, Expert Centres are key intermediaries between public and private sectors performing the analysis of biological samples under internationally standardized conditions. This paper presents the rationale behind the Expert Centres and illustrates the novel concept with model examples.

To encourage the process of harmonization, the biobank community should support and use a common terminology. Relevant terms may be found in general thesauri for medicine, legal instruments or specific glossaries for biobanking. A comparison of the use of these sources has so far not been conducted and would be a useful instrument to further promote harmonization and data sharing. Thus, the purpose of the present study was to investigate the preference of definitions important for sharing biological samples and data. Definitions for 10 terms -[human] biobank, sample/specimen, sample collection, study, aliquot, coded, identifying information, anonymised, personal data and informed consent-were collected from several sources. A web-based questionnaire was sent to 560 European individuals working with biobanks asking to select their preferred definition for the terms. A total of 123 people participated in the survey, giving a response rate of 23%. The result was evaluated from four aspects: scope of definitions, potential regional differences, differences in semantics and definitions in the context of ontologies, guided by comments from responders. Indicative from the survey is the risk of focusing only on the research aspect of biobanking in definitions. Hence, it is recommended that important terms should be formulated in such a way that all areas of biobanking are covered to improve the bridges between research and clinical application. Since several of the terms investigated here within can also be found in a legal context, which may differ between countries, establishing what is a proper definition on how it adheres to law is also crucial.

Background: Biobanks are a critical resource for translational science. Recently, semantic web technologies such as ontologies have been found useful in retrieving research data from biobanks. However, recent research has also shown that there is a lack of data about the administrative aspects of biobanks. These data would be helpful to answer research-relevant questions such as what is the scope of specimens collected in a biobank, what is the curation status of the specimens, and what is the contact information for curators of biobanks. Our use cases include giving researchers the ability to retrieve key administrative data (e.g. contact information, contact's affiliation, etc.) about the biobanks where specific specimens of interest are stored. Thus, our goal is to provide an ontology that represents the administrative entities in biobanking and their relations. We base our ontology development on a set of 53 data attributes called MIABIS, which were in part the result of semantic integration efforts of the European Biobanking and Biomolecular Resources Research Infrastructure (BBMRI). The previous work on MIABIS provided the domain analysis for our ontology. We report on a test of our ontology against competency questions that we derived from the initial BBMRI use cases. Future work includes additional ontology development to answer additional competency questions from these use cases., Results: We created an open-source ontology of biobank administration called Ontologized MIABIS (OMIABIS) coded in OWL 2.0 and developed according to the principles of the OBO Foundry. It re-uses pre-existing ontologies when possible in cooperation with developers of other ontologies in related domains, such as the Ontology of Biomedical Investigation. OMIABIS provides a formalized representation of biobanks and their administration. Using the ontology and a set of Description Logic queries derived from the competency questions that we identified, we were able to retrieve test data with perfect accuracy. In addition, we began development of a mapping from the ontology to pre-existing biobank data structures commonly used in the U.S., Conclusions: In conclusion, we created OMIABIS, an ontology of biobank administration. We found that basing its development on pre-existing resources to meet the BBMRI use cases resulted in a biobanking ontology that is re-useable in environments other than BBMRI. Our ontology retrieved all true positives and no false positives when queried according to the competency questions we derived from the BBMRI use cases. Mapping OMIABIS to a data structure used for biospecimen collections in a medical center in Little Rock, AR showed adequate coverage of our ontology.

Background: The 2009/2010 pandemic influenza highlighted the need for valid and timely incidence data. In 2007 we started the development of a passive surveillance scheme based on passive follow-up of representative general population cohorts. Cohort members are asked to spontaneously report all instances of colds and fevers as soon as they occur for up to 9 months. Suspecting that compliance might be poor, we aimed to assess the validity of self-initiated, event-driven outcome reporting over long periods., Methods: During two 8 week periods in 2008 and 2009, 2376 and 2514 cohort members in Stockholm County were sent one-week recall questionnaires, which served as reference method., Results: The questionnaires were completed by 88% and 86% of the cohort members. Whilst the false positive proportion (1-specificity) in the reporting was low (upper bound of the 95% confidence interval [CI] ≤ 2% in each season), the false negative proportion (failure to report, 1-sensitivity) was considerable (60% [95% CI 52%-67%] in each season). Still, the resulting epidemic curves for influenza-like illness compared well with those from existing General Practitioner-based sentinel surveillance in terms of shape, timing of peak, and year-to-year variation. This suggested that the error was fairly constant., Conclusions: Passive long-term surveillance through self-initiated, event-driven outcome reporting underestimates incidence rates of common upper respiratory tract infections. However, because underreporting appears predictable, simple corrections could potentially restore validity.

The Swedish Cervical Cytology Biobank (SCCB) is the first national initiative of a prospective repository for liquid-based gynecological cell samples (LBC) from women participating in organized cervical cancer screening programs. Development and implementation of a nationally standardized method for the handling and long-term storage of cervical cell samples has been a primary goal for the Swedish hub of The Biobanking and Molecular Resource Infrastructure (BBMRI.se, www.bbmri.se). The sample handling protocol was developed through i) review of the literature on biobanking processes, ii) wide consultation within the academic community, and iii) various verification assays in collaboration with the clinical cytology laboratories. A general quality management system, covering all aspects of sample handling and storage, has been established. BBMRI.se financed the development and implementation of SCCB. The protocol established in the pilot project in Stockholm is now being implemented in other counties in Sweden, and during this year, more than 120,000 LBC samples will be processed for biobanking nationwide. SCCB is embedded in a comprehensive cytology diagnostic registry and will be linked with the national cancer registry to constitute a nearly inexhaustible resource for performance of fundamental and applied biologic research.

Biobanks can have a pivotal role in elucidating disease etiology, translation, and advancing public health. However, meeting these challenges hinges on a critical shift in the way science is conducted and requires biobank harmonization. There is growing recognition that a common strategy is imperative to develop biobanking globally and effectively. To help guide this strategy, we articulate key principles, goals, and priorities underpinning a roadmap for global biobanking to accelerate health science, patient care, and public health. The need to manage and share very large amounts of data has driven innovations on many fronts. Although technological solutions are allowing biobanks to reach new levels of integration, increasingly powerful data-collection tools, analytical techniques, and the results they generate raise new ethical and legal issues and challenges, necessitating a reconsideration of previous policies, practices, and ethical norms. These manifold advances and the investments that support them are also fueling opportunities for biobanks to ultimately become integral parts of health-care systems in many countries. International harmonization to increase interoperability and sustainability are two strategic priorities for biobanking. Tackling these issues requires an environment favorably inclined toward scientific funding and equipped to address socio-ethical challenges. Cooperation and collaboration must extend beyond systems to enable the exchange of data and samples to strategic alliances between many organizations, including governmental bodies, funding agencies, public and private science enterprises, and other stakeholders, including patients. A common vision is required and we articulate the essential basis of such a vision herein.

Numerous successful scientific results have emerged from projects using shared biobanked samples and data. In order to facilitate the discovery of underutilized biobank samples, it would be helpful if a global biobank register containing descriptive information about the samples existed. But first, for shared data to be comparable, it needs to be harmonized. In compliance with the aim of BBMRI (Biobanking and Biomolecular Resources Research Infrastructure), to harmonize biobanking across Europe, and the conclusion that the move towards a universal information infrastructure for biobanking is directly connected to the issues of semantic interoperability through standardized message formats and controlled terminologies, we have developed an updated version of the minimum data set for biobanks and studies using human biospecimens. The data set called MIABIS (Minimum Information About BIobank data Sharing) consists of 52 attributes describing a biobank's content. The aim is to facilitate data discovery through harmonization of data elements describing a biobank at the aggregate level. As many biobanks across Europe possess a tremendous amount of samples that are underutilized, this would help pave the way for biobank networking on a national and international level, resulting in time and cost savings and faster emergence of new scientific results.

An investigation in a randomized population-based Swedish study with 564 participants aged 18-80 years showed that mean physical activity levels obtained using short message service (SMS) by means of cell phones (n = 171) were equal to corresponding levels obtained when sending identical questions by web (n = 182) or paper (n = 211). The response rates were similar for the SMS, web and paper groups.

Background: Physical activity promotes health and longevity. Further elaboration of the role of physical activity for human health in epidemiological studies on large samples requires accurate methods that are easy to use, cheap, and possible to repeat. The use of telecommunication technologies such as cell phones is highly interesting in this respect. In an earlier report, we showed that physical activity level (PAL) assessed using a cell phone procedure agreed well with corresponding estimates obtained using the doubly labeled water method. However, our earlier study indicated high within-subject variation in relation to between-subject variations in PAL using cell phones, but we could not assess if this was a true variation of PAL or an artifact of the cell phone technique., Objective: Our objective was to compare within- and between-subject variations in PAL by means of cell phones with corresponding estimates using an accelerometer. In addition, we compared the agreement of daily PAL values obtained using the cell phone questionnaire with corresponding data obtained using an accelerometer., Methods: PAL was measured both with the cell phone questionnaire and with a triaxial accelerometer daily during a 2-week study period in 21 healthy Swedish women (20 to 45 years of age and BMI from 17.7 kg/m² to 33.6 kg/m²). The results were evaluated by fitting linear mixed effect models and descriptive statistics and graphs., Results: With the accelerometer, 57% (95% confidence interval [CI] 40%-66%) of the variation was within subjects, while with the cell phone, within-subject variation was 76% (95% CI 59%-83%). The day-to-day variations in PAL observed using the cell phone questions agreed well with the corresponding accelerometer results., Conclusions: Both the cell phone questionnaire and the accelerometer showed high within-subject variations. Furthermore, day-to-day variations in PAL within subjects assessed using the cell phone agreed well with corresponding accelerometer values. Consequently, our cell phone questionnaire is a promising tool for assessing levels of physical activity. The tool may be useful for large-scale prospective studies.

A new biobanking method is proposed, wherein samples and associated data would be deposited anonymously and labelled using a PIN code that is produced on the basis of personal biological characteristics, such as single nucleotide polymorphisms. The code would be the 'Bio-PIN' to uniquely distinguish the sample depositors, plus their samples and data. This method could help to diminish several long-discussed ethical, legal and societal problems in biobanking regarding privacy, informed consent, autonomy, data security and public trust.

The formulation vehicle Cremophor EL has previously been shown to affect paclitaxel kinetics, but it is not known whether it also affects the kinetics of paclitaxel metabolites. This information may be important for understanding paclitaxel metabolism in vivo and in the investigation of the role of genetic polymorphisms in the metabolizing enzymes CYP2C8 and CYP3A4/CYP3A5 and the ABCB1 transporter. In this study we used the population pharmacokinetic approach to explore the influence of predicted Cremophor EL concentrations on paclitaxel (Taxol) metabolites. In addition, correlations between genetic polymorphisms and enzyme activity with clearance of paclitaxel, its two primary metabolites, 6α-hydroxypaclitaxel and p-3'-hydroxypaclitaxel, and its secondary metabolite, 6α-p-3'-dihydroxypaclitaxel were investigated. Model building was based on 1156 samples from a study with 33 women undergoing paclitaxel treatment for gynecological cancer. Total concentrations of paclitaxel were fitted to a model described previously. One-compartment models characterized unbound metabolite concentrations. Total concentrations of 6α-hydroxypaclitaxel and p-3'-hydroxypaclitaxel were strongly dependent on predicted Cremophor EL concentrations, but this association was not found for 6α-p-3'-dihydroxypaclitaxel. Clearance of 6α-hydroxypaclitaxel (fraction metabolized) was significantly correlated (p < 0.05) to the ABCB1 allele G2677T/A. Individuals carrying the polymorphisms G/A (n = 3) or G/G (n = 5) showed a 30% increase, whereas individuals with polymorphism T/T (n = 8) showed a 27% decrease relative to those with the polymorphism G/T (n = 17). The correlation of G2677T/A with 6α-hydroxypaclitaxel has not been described previously but supports other findings of the ABCB1 transporter playing a part in paclitaxel metabolism.

The sequencing of the human genome, completed at the dawn of the twenty-first century, allows researchers to integrate new data on genetic risk factors with demographic and lifestyle data collected via modern communication technologies. The technical prerequisites now exist for merging these cascades of molecular genetic information, not only to national health registers, but also to epidemiology and clinical data. Long-term storage of biological materials and data is a critical component of any epidemiological or clinical study. In designing Biobanks, informatics plays a vital role for the handling of samples and data in a timely fashion. Biobank Informatics contains important elements concerning definition, structure, and standardization of information that has been gathered from a multitude of sources from population-based registries, biobanks, patient records, and from large-scale molecular measurements.

Studying gene-environment interactions requires that the amount and quality of the lifestyle data is comparable to what is available for the corresponding genomic data. Sweden has several crucial prerequisites for comprehensive longitudinal biomedical research, such as the personal identity number, the universally available national health care system, continuously updated population and health registries and a scientifically motivated population. LifeGene builds on these strengths to bridge the gap between basic research and clinical applications with particular attention to populations, through a unique design in a research-friendly setting. LifeGene is designed both as a prospective cohort study and an infrastructure with repeated contacts of study participants approximately every 5 years. Index persons aged 18-45 years old will be recruited and invited to include their household members (partner and any children). A comprehensive questionnaire addressing cutting-edge research questions will be administered through the web with short follow-ups annually. Biosamples and physical measurements will also be collected at baseline, and re-administered every 5 years thereafter. Event-based sampling will be a key feature of LifeGene. The household-based design will give the opportunity to involve young couples prior to and during pregnancy, allowing for the first study of children born into cohort with complete pre-and perinatal data from both the mother and father. Questions and sampling schemes will be tailored to the participants' age and life events. The target of LifeGene is to enroll 500,000 Swedes and follow them longitudinally for at least 20 years.

Background: Vast sample sizes are often essential in the quest to disentangle the complex interplay of the genetic, lifestyle, environmental and social factors that determine the aetiology and progression of chronic diseases. The pooling of information between studies is therefore of central importance to contemporary bioscience. However, there are many technical, ethico-legal and scientific challenges to be overcome if an effective, valid, pooled analysis is to be achieved. Perhaps most critically, any data that are to be analysed in this way must be adequately 'harmonized'. This implies that the collection and recording of information and data must be done in a manner that is sufficiently similar in the different studies to allow valid synthesis to take place., Methods: This conceptual article describes the origins, purpose and scientific foundations of the DataSHaPER (DataSchema and Harmonization Platform for Epidemiological Research; http://www.datashaper.org), which has been created by a multidisciplinary consortium of experts that was pulled together and coordinated by three international organizations: P³G (Public Population Project in Genomics), PHOEBE (Promoting Harmonization of Epidemiological Biobanks in Europe) and CPT (Canadian Partnership for Tomorrow Project)., Results: The DataSHaPER provides a flexible, structured approach to the harmonization and pooling of information between studies. Its two primary components, the 'DataSchema' and 'Harmonization Platforms', together support the preparation of effective data-collection protocols and provide a central reference to facilitate harmonization. The DataSHaPER supports both 'prospective' and 'retrospective' harmonization., Conclusion: It is hoped that this article will encourage readers to investigate the project further: the more the research groups and studies are actively involved, the more effective the DataSHaPER programme will ultimately be.

The authors aimed to evaluate the web and an Interactive Voice Response (IVR) phone service as vehicles in population-based infectious disease surveillance. Fourteen thousand subjects were randomly selected from the Swedish population register and asked to prospectively report all respiratory tract infections, including Influenza-like Illness (ILI-clinical symptoms indicative of influenza but no laboratory confirmation), immediately as they occurred during a 36-week period starting October 2007. Participants were classified as belonging to the web or IVR group based on their choice of technology for initial registration. In all, 1,297 individuals registered via IVR while 2,044 chose the web. The latter were more often young and well-educated than those registered via IVR. Overall, 52% of the participants reported at least one infection episode. The risk of an infectious disease report was 14% (95% CI: 6, 22%) higher in the web group than in the IVR group. For ILI the excess was 27% (95% CI: 11, 47%). After adjustments for socio-demographic factors, statistically non-significant excesses of 1 and 8% remained, indicating trivial differences potentially attributable to the two reporting techniques. With attention to confounding, it should be possible to combine the web and IVR for simple reporting of infectious disease symptoms.

Background: Physical activity is associated with reduced risks of many chronic diseases. Data collected on physical activity in large epidemiological studies is often based on paper questionnaires. The validity of these questionnaires is debated, and more effective methods are needed., Objective: This study evaluates repeated measures of physical activity level (PAL) and the feasibility of using a Java-based questionnaire downloaded onto cell phones for collection of such data. The data obtained were compared with reference estimates based on the doubly labeled water method and indirect calorimetry (PAL(ref))., Method: Using a Java-based cell phone application, 22 women reported their physical activity based on two short questions answered daily over a 14-day period (PAL(cell)). Results were compared with reference data obtained from the doubly labeled water method and indirect calorimetry (PAL(ref)). Results were also compared against physical activity levels assessed by two regular paper questionnaires completed by women at the end of the 14-day period (PAL(quest1) and PAL(quest2)). PAL(cell), PAL(quest1), and PAL(quest2) were compared with PAL(ref) using the Bland and Altman procedure., Results: The mean difference between PAL(cell) and PAL(ref) was small (0.014) with narrow limits of agreement (2SD = 0.30). Compared with PAL(ref), the mean difference was also small for PAL(quest1) and PAL(quest2) (0.004 and 0.07, respectively); however, the limits of agreement were wider (PAL(quest1), 2SD = 0.50 and PAL(quest2), 2SD = 0.90). The test for trend was statistically significant for PAL(quest1) (slope of regression line = 0.79, P = .04) as well as for PAL(quest2) (slope of regression line = 1.58, P < .001) when compared with PAL(ref)., Conclusion: A Java-based physical activity questionnaire administered daily using cell phones produced PAL estimates that agreed well with PAL reference values. Furthermore, the limits of agreement between PAL obtained using cell phones, and reference values were narrower than for corresponding estimates obtained using paper questionnaires. Java-based questionnaires downloaded onto cell phones may be a feasible and cost-effective method of data collection for large-scale prospective studies of physical activity.

The large amounts of data generated when high-throughput genotyping methods are used in large-scale epidemiological studies (>10,000 participants) present an enormous challenge to researchers in terms of structured data management. In order to face these challenges, a system has been designed and implemented where genotype data can be efficiently stored. Focus has been on enabling researchers to collaborate by sharing genotype data with each other in a secure and controlled way. Genotype data is available where individuals can be selected using phenotype information and access to specific SNPs can be controlled using user-defined filters. Further value has been added to the basic genotypic information by including extensive metadata. Performance testing of the system was carried out using both artificial and real-world genotype data and shows that the implementation handles large datasets with a linear increase in extraction time and that the retrieval performance is more than sufficient for near-future genotyping research.

This study compared the use of Short Message Service (SMS) on mobile phones and the use of telephone interviews in collecting self-reported data about influenza vaccination. Through random selection from the Swedish population registry, 2,400 individuals were assigned to be contacted through SMS (SMS-group), and 2,150 were assigned to undergo personal telephone interviews (TI-group). Both groups were asked three questions about influenza and influenza vaccination. Mobile phone numbers were found for 1,055 persons in the SMS-group of whom 154 (6% of the original sample; 15% of all who had a listed mobile phone number) responded. Landline or mobile phone numbers were found for 1,636 persons in the TI-group and 1,009 (47% of the original TI sample; 62% of those where a telephone number was found) responded. The vaccination data collected via SMS was not statistically significantly different from data collected through telephone interviews, and adjustment for different background factors did not change this. Compared to the original sample, there was an under representation of elderly and less educated individuals among the participants in the SMS-group, and under representation of less educated in the TI-group. Though the participation rate was low, SMS is a feasible method for collection of information on vaccination status data among the Swedish population compared to telephone interviews.

Background: Hearing impairment is most accurately measured by a clinical pure-tone audiogram. This method is not suitable for large-scale, population-based epidemiological studies as it requires that study participants visit a clinic with trained personnel. An alternative approach to measuring hearing ability is self-estimation through questionnaires, but the correlation to clinical audiometric tests varies., Objective: To evaluate an Internet-based hearing test pilot compared to a question about self-estimated hearing and the feasibility of using an Internet-based hearing test and an Internet-based questionnaire in a population of 560 members of the Swedish Hunters' Association in the age group 20-60 years., Methods: An invitation was mailed to the participants in March 2007 together with the URL to the study Web site, a personal username, and a password. The Web site included the questionnaire, the hearing test, and instructions for participating in the study. The hearing test resembles a clinical audiogram presenting 6 tones between 500 and 8000 Hz. Tones are presented between 0 and 60 dB, and the participant responds to the tones by pressing the space bar. The hearing test requires headphones and is based on JAVA programming. Before the participant can start the hearing test, it has to be calibrated against a reference person with good hearing between 15 and 35 years of age., Results: After 5 months, 162 out of 560 (29%) had answered the questionnaire, out of which 88 (16%) had completed the hearing test. Those who actively declined participation numbered 230 out of 560 (41%). After removing duplicates and hearing tests calibrated by unreliable reference data, 61 hearing tests remained for analysis. The prevalence of hearing impairment from the Internet-based hearing test was 20% (12 out of 61), compared to 52% (32 out of 61) from the self-estimated question. Those who completed the hearing test were older than the non-participants, and more had headphones (P = .003) and the correct version of the JAVA program (P = .007) than those who only answered the questionnaire., Conclusions: Though an Internet-based hearing test cannot replace a clinical pure-tone audiogram conducted by a trained audiologist, it is a valid and useful screening tool for hearing ability in a large population carried out at a low cost.

Biobanks are well-organized resources comprising biological samples and associated information that are accessible to scientific investigation. Across Europe, millions of samples with related data are held in different types of collections. While individual collections can be well organized and accessible, the resources are subject to fragmentation, insecurity of funding and incompleteness. To address these issues, a Biobanking and BioMolecular Resources Infrastructure (BBMRI) is to be developed across Europe, thereby implementing a European 'roadmap' for research infrastructures that was developed by a forum of EU member states and that has been received by the European Commission. In this review, we describe the work involved in preparing for the construction of BBMRI in a European and global context.

Integration of complex data and data management represent major challenges in large-scale biobank-based post-genome era research projects like GenomEUtwin (an international collaboration between eight Twin Registries) with extensive amounts of genotype and phenotype data combined from different data sources located in different countries. The challenge lies not only in data harmonization and constant update of clinical details in various locations, but also in the heterogeneity of data storage and confidentiality of sensitive health-related and genetic data. Solid infrastructure must be built to provide secure, but easily accessible and standardized, data exchange also facilitating statistical analyses of the stored data. Data collection sites desire to have full control of the accumulation of data, and at the same time the integration should facilitate effortless slicing and dicing of the data for different types of data pooling and study designs. Here we describe how we constructed a federated database infrastructure for genotype and phenotype information collected in seven European countries and Australia and connected this database setting via a network called TwinNET to guarantee effortless data exchange and pooled analyses. This federated database system offers a powerful facility for combining different types of information from multiple data sources. The system is transparent to end users and application developers, since it makes the set of federated data sources look like a single system. The user need not be aware of the format or site where the data are stored, the language or programming interface of the data source, how the data are physically stored, whether they are partitioned and/or replicated or what networking protocols are used. The user sees a single standardized interface with the desired data elements for pooled analyses.

The successful and systematic collection of demographic and lifestyle data is central in the process of any epidemiological study. The traditionally used methods such as face-to-face and telephone interviews as well as paper-questionnaires are increasingly failing to produce good qualitative results within financially feasible limits. Tools that are better suited for the present dynamic populations are needed and the Internet presents a powerful alternative for the collection of data with several intrinsic features still unexplored.

Background: Web-questionnaires are an important tool for future epidemiological research because these allow for rapid and cost-efficient assembly of self-reported information on risk factors and health outcomes. However, to achieve high response rates it is essential to accommodate factors that prevent drop out and so insure validity of future studies. We aim to study how socio-demographic variables as well as design issues such as the ordering and level of difficulty (Easy-to-hard vs. Hard-to-easy) of questions in a web-questionnaire affects the probability of drop out and non-response., Method: In 2003 we invited 47,859 women participating in an ongoing prospective study to a follow-up using a web-based mode. Two versions of the questionnaire existed, varying in level of difficulty (Easy-to-hard vs. Hard-to-easy). We report drop out (proportion non-completers) between groups defined by level of difficulty and estimated adjusted risk differences., Results: The drop out differs significantly depending on the order of the questions in the web-questionnaire. The socio-demographic pattern among lurkers (participants that enter, start responding to, but do not complete a web-questionnaire) differs from that among completers of web-questionnaires., Conclusions: An additional 6% units of completers--persons initiating and completing the questionnaire--can be obtained by considering the ordering of questions. A group uniquely identified in web-surveys, as lurkers are potentially easier to persuade to complete an already started web-questionnaire compared to a non-responder. Lurkers thus constitute a unique opportunity of decreasing the drop out rate and therefore merit future research.

To date, few large web-based epidemiological studies have been performed in a population-based setting. Sweden has optimal prerequisites for web-based studies with more than 80% of the general population having access to the Internet. Our aim was to investigate (I) response rates in an epidemiological study using primarily the web as a tool for data collection and (II) whether socio-demographic patterns vary between responders to a web and a paper questionnaire. In 2003, we invited 47,859 women to complete a web questionnaire. Two reminders were sent to non-responders; in the first a random sample received a paper questionnaire and in the second the majority received a paper questionnaire. All other non-responders received web questionnaires. Differences in response rates between responders to web and paper questionnaires with regard to socio-demographic and other variables were analyzed, and estimates of the bias introduced by these differences were estimated. In total, 41% of the women responded to the web questionnaire and 31% to the paper questionnaire (overall response rate 72%). The web-, paper- and non-responders respectively did not differ significantly in age, physical activity levels, and body mass index. Women answering web or paper questionnaires had a higher level of education and income and a lower level of smoking than non-responders. The bias associated with collecting information using web questionnaires was not greater than that caused by paper questionnaires. We conclude that web-based questionnaires are a feasible tool for data collection in large population based epidemiological studies in Sweden.

Objective: To investigate the prevalence and quality of interactive cancer risk sites on the Internet., Methods: A cancer risk site was defined as a website that gave an estimate of the individual risk of developing cancer. Six search engines and one Meta crawler were used to search the Internet for cancer risk sites (including breast, prostate, colon, and lung cancer). A set of defined quality criteria for health related websites was used to evaluate the websites during 2001 and 2002., Results: The number of cancer risk sites, as defined above, increased by 50% between 2001 and 2002. Only two out of 22 cancer risk sites fulfilled the quality criteria adequately. No signs of a change in trend (with regard to the quality criteria met) were noted in January 2005., Conclusions: The overall quality of the documentation on the cancer risk sites was poor and no improvement was seen during the study period. The majority of the cancer risk sites do not give reliable risk estimates.