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.
Background Proper understanding of the roles of, and interactions between genetic, lifestyle, environmental and psycho-social factors in determining the risk of development and/or progression of ...chronic diseases requires access to very large high-quality databases. Because of the financial, technical and time burdens related to developing and maintaining very large studies, the scientific community is increasingly synthesizing data from multiple studies to construct large databases. However, the data items collected by individual studies must be inferentially equivalent to be meaningfully synthesized. The DataSchema and Harmonization Platform for Epidemiological Research (DataSHaPER; http://www.datashaper.org) was developed to enable the rigorous assessment of the inferential equivalence, i.e. the potential for harmonization, of selected information from individual studies.
Methods This article examines the value of using the DataSHaPER for retrospective harmonization of established studies. Using the DataSHaPER approach, the potential to generate 148 harmonized variables from the questionnaires and physical measures collected in 53 large population-based studies (6.9 million participants) was assessed. Variable and study characteristics that might influence the potential for data synthesis were also explored.
Results Out of all assessment items evaluated (148 variables for each of the 53 studies), 38% could be harmonized. Certain characteristics of variables (i.e. relative importance, individual targeted, reference period) and of studies (i.e. observational units, data collection start date and mode of questionnaire administration) were associated with the potential for harmonization. For example, for variables deemed to be essential, 62% of assessment items paired could be harmonized.
Conclusion The current article shows that the DataSHaPER provides an effective and flexible approach for the retrospective harmonization of information across studies. To implement data synthesis, some additional scientific, ethico-legal and technical considerations must be addressed. The success of the DataSHaPER as a harmonization approach will depend on its continuing development and on the rigour and extent of its use. The DataSHaPER has the potential to take us closer to a truly collaborative epidemiology and offers the promise of enhanced research potential generated through synthesized databases.
Whether caffeine intake during pregnancy is related to intrauterine growth retardation, low birth weight, and preterm birth remains unclear. The purpose of this population-based study is to assess ...these associations and to evaluate the interaction between caffeine intake and smoking. The study participants (n = 7,025) were women who lived in Quebec City, Canada, and the surrounding area who gave birth between January 1989 and October 1989 to a singleton liveborn neonate. Information on gestational age at delivery, caffeine intake (coffee, tea, chocolate, and colas) during pregnancy, and several potential confounders was obtained by telephone a few weeks after delivery. Birth weight was abstracted from the birth certificate. Caffeine consumption was associated with an increased risk of intrauterine growth retardation (birth weight less than the 10th percentile for sex and gestational age). For women whose average daily caffeine consumption was 0-10, 11-150, 151-300, or > 300 mg, the adjusted odds ratios for delivering a newborn with growth retardation were 1.00, 1.28 (95% confidence interval (CI) 1.04-1.59), 1.42 (95% CI 1.07-1.87), and 1.57 (95% CI 1.05-2.33), respectively. Caffeine intake, however, was not related to preterm delivery or low birth weight. We conclude that caffeine intake during pregnancy is a risk factor for intrauterine growth retardation.
ABSTRACT BACKGROUND Understanding the complex interaction of risk factors that increase the likelihood of developing common diseases is challenging. The Canadian Partnership for Tomorrow Project ...(CPTP) is a prospective cohort study created as a population-health research platform for assessing the effect of genetics, behaviour, family health history and environment (among other factors) on chronic diseases. METHODS Volunteer participants were recruited from the general Canadian population for a confederation of 5 regional cohorts. Participants were enrolled in the study and core information obtained using 2 approaches: attendance at a study assessment centre for all study measures (questionnaire, venous blood sample and physical measurements) or completion of the core questionnaire (online or paper), with later collection of other study measures where possible. Physical measurements included height, weight, percentage body fat and blood pressure. Participants consented to passive follow-up through linkage with administrative health databases and active follow-up through recontact. All participant data across the 5 regional cohorts were harmonized. RESULTS A total of 307 017 participants aged 30–74 from 8 provinces were recruited. More than half provided a venous blood sample and/or other biological sample, and 33% completed physical measurements. A total of 709 harmonized variables were created; almost 25% are available for all participants and 60% for at least 220 000 participants. INTERPRETATION Primary recruitment for the CPTP is complete, and data and biosamples are available to Canadian and international researchers through a data-access process. The CPTP will support research into how modifiable risk factors, genetics and the environment interact to affect the development of cancer and other chronic diseases, ultimately contributing evidence to reduce the global burden of chronic disease.
Making sense of rapidly evolving evidence on genetic associations is crucial to making genuine advances in human genomics and the eventual integration of this information in the practice of medicine ...and public health. Assessment of the strengths and weaknesses of this evidence, and hence the ability to synthesize it, has been limited by inadequate reporting of results. The STrengthening the REporting of Genetic Association studies (STREGA) initiative builds on the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) Statement and provides additions to 12 of the 22 items on the STROBE checklist. The additions concern population stratification, genotyping errors, modelling haplotype variation, Hardy-Weinberg equilibrium, replication, selection of participants, rationale for choice of genes and variants, treatment effects in studying quantitative traits, statistical methods, relatedness, reporting of descriptive and outcome data, and the volume of data issues that are important to consider in genetic association studies. The STREGA recommendations do not prescribe or dictate how a genetic association study should be designed but seek to enhance the transparency of its reporting, regardless of choices made during design, conduct, or analysis.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
The BETTER (BEhaviors, Therapies, TEchnologies and hypoglycemic Risk in Type 1 diabetes) registry is a type 1 diabetes population surveillance system codeveloped with patient partners to address the ...burden of hypoglycemia and assess the impact of new therapies and technologies. The aim of this report was to describe the baseline characteristics of the BETTER registry cohort.
A cross-sectional baseline evaluation was performed of a Canadian clinical cohort established after distribution of an online questionnaire. Participants were recruited through clinics, public foundations, advertising and social media. As of February 2021, 1,430 persons ≥14 years of age and living with type 1 diabetes or latent-autoimmune diabetes (LADA) were enrolled. The trial was registered on ClinicalTrials.gov (NCT03720197).
Participants were (mean ± standard deviation) 41.2±15.7 years old with a diabetes duration of 22.0±14.7 years, 62.0% female, 92.1% Caucasian and 7.8% self-reporting as LADA, with 40.9% using a continuous subcutaneous insulin infusion (CSII) system and 78.0% using a continuous glucose monitoring (CGM) system. The most recent glycated hemoglobin ≤7% was reported by 29.7% of participants. At least 1 episode of hypoglycemia <3.0 mmol/L (level 2-H) in the last month was reported by 78.4% of participants, with a median (interquartile range) of 5 (3, 10) episodes. The occurrence of severe hypoglycemia (level 3-H) in the last 12 months was reported by 13.3% of participants. Among these, the median number of episodes was 2 (1, 3).
We have established the first surveillance registry for people living with type 1 diabetes in Canada relying on patient-reported outcomes and experiences. Hypoglycemia is a highly prevalent burden despite a relatively wide adoption of CSII and CGM use.
Le registre BETTER (BEhaviors, Therapies, TEchnologies and hypoglycemic Risk in Type 1 diabetes) est un système de surveillance de la population atteinte du diabète de type 1 conçu en collaboration avec des patients partenaires pour alléger le fardeau de l’hypoglycémie et évaluer les répercussions des nouveaux traitements et des nouvelles technologies. L’objectif du présent compte rendu était de décrire les caractéristiques initiales de la cohorte du registre BETTER.
Nous avons réalisé une évaluation transversale initiale d’une cohorte clinique canadienne établie après la distribution d’un questionnaire en ligne. Nous avons recruté les participants dans les cliniques, les fondations publiques, par la publicité et les médias sociaux. Dès février 2021 1430 personnes se sont inscrites, âgées de ≥ 14 ans et vivant avec le diabète de type 1 ou un diabète auto-immun latent (LADA, de l’anglais latent-autoimmune diabetes). L’essai a été enregistré au ClinicalTrials.gov (NCT03720197).
Les participants avaient (moyenne ± écart type) 41,2 ± 15,7 ans et une durée de diabète de 22,0 ± 14,7 ans; 62,0 % étaient des femmes; 92,1 % étaient des Blancs ; 7,8 % déclaraient avoir un LADA; 40,9 % utilisaient un système de perfusion sous-cutanée continue d’insuline (PSCI); 78,0 % utilisaient un système de surveillance du glucose en continu (SGC). L’hémoglobine glyquée la plus récente ≤ 7 % était signalée par 29,7 % des participants. Parmi eux, 78,4 % signalaient au moins 1 épisode d’hypoglycémie < 3,0 mmol/L (H-degré 2) au cours du dernier mois (médiane intervalle interquartile de 5 épisodes 3 à 10), et 13,3 % signalaient avoir subi une hypoglycémie grave (H-degré 3) au cours des 12 derniers mois (nombre médian d’épisodes de 2 1 à 3).
Nous avons établi le premier registre de surveillance des personnes diabétiques de type 1 au Canada qui repose sur les résultats et les expériences signalés par le patient. L’hypoglycémie est très répandue en dépit de l’adoption assez généralisée de la PSCI et de l’utilisation de la SGC.
Standardization procedures are commonly used to combine phenotype data that were measured using different instruments, but there is little information on how the choice of standardization method ...influences pooled estimates and heterogeneity. Heterogeneity is of key importance in meta-analyses of observational studies because it affects the statistical models used and the decision of whether or not it is appropriate to calculate a pooled estimate of effect. Using 2-stage individual participant data analyses, we compared 2 common methods of standardization, T-scores and category-centered scores, to create combinable memory scores using cross-sectional data from 3 Canadian population-based studies (the Canadian Study on Health and Aging (1991-1992), the Canadian Community Health Survey on Healthy Aging (2008-2009), and the Quebec Longitudinal Study on Nutrition and Aging (2004-2005)). A simulation was then conducted to assess the influence of varying the following items across population-based studies: 1) effect size, 2) distribution of confounders, and 3) the relationship between confounders and the outcome. We found that pooled estimates based on the unadjusted category-centered scores tended to be larger than those based on the T-scores, although the differences were negligible when adjusted scores were used, and that most individual participant data meta-analyses identified significant heterogeneity. The results of the simulation suggested that in terms of heterogeneity, the method of standardization played a smaller role than did different effect sizes across populations and differential confounding of the outcome measure across studies. Although there was general consistency between the 2 types of standardization methods, the simulations identified a number of sources of heterogeneity, some of which are not the usual sources considered by researchers.
The biggest challenge in twenty-first century data-intensive genomic science, is developing vast computer infrastructure and advanced software tools to perform comprehensive analyses of genomic data ...sets for biomedical research and clinical practice. Researchers are increasingly turning to cloud computing both as a solution to integrate data from genomics, systems biology and biomedical data mining and as an approach to analyze data to solve biomedical problems. Although cloud computing provides several benefits such as lower costs and greater efficiency, it also raises legal and ethical issues. In this article, we discuss three key 'points to consider' (data control; data security, confidentiality and transfer; and accountability) based on a preliminary review of several publicly available cloud service providers' Terms of Service. These 'points to consider' should be borne in mind by genomic research organizations when negotiating legal arrangements to store genomic data on a large commercial cloud service provider's servers. Diligent genomic cloud computing means leveraging security standards and evaluation processes as a means to protect data and entails many of the same good practices that researchers should always consider in securing their local infrastructure.
Abstract Objectives To identify statistical methods for harmonization, the procedures aimed at achieving the comparability of previously collected data, which could be used in the context of summary ...data and individual participant data meta-analysis of cognitive measures. Study Design and Setting Environmental scan methods were used to conduct two reviews to identify (1) studies that quantitatively combined data on cognition and (2) general literature on statistical methods for data harmonization. Search results were rapidly screened to identify articles of relevance. Results All 33 meta-analyses combining cognition measures either restricted their analyses to a subset of studies using a common measure or combined standardized effect sizes across studies; none reported their harmonization steps before producing summary effects. In the second scan, three general classes of statistical harmonization models were identified (1) standardization methods, (2) latent variable models, and (3) multiple imputation models; few publications compared methods. Conclusion Although it is an implicit part of conducting a meta-analysis or pooled analysis, the methods used to assess inferential equivalence of complex constructs are rarely reported or discussed. Progress in this area will be supported by guidelines for the conduct and reporting of the data harmonization and integration and by evaluating and developing statistical approaches to harmonization.
The Canadian Partnership for Tomorrow Project is a multistudy platform integrating the British Columbia Generations Project, Alberta's Tomorrow Project, the Ontario Health Study, CARTaGENE (Quebec) ...and the Atlantic Partnership for Tomorrow's Health. This paper describes the process used to harmonize the Health and Risk Factor Questionnaire data and provides an overview of the key information required to properly use the core data set generated.
This is a descriptive analysis of the harmonization process that was developed on the basis of the Maelstrom Research guidelines for retrospective harmonization. Core variables (DataSchema) to be generated across cohorts were defined and the potential for cohort-specific data sets to generate the DataSchema variables was assessed. Where relevant, algorithms were developed and applied to process cohort-specific data into the DataSchema format, and information to be provided to data users was documented.
The Health and Risk Factor Questionnaire DataSchema (version 2.0, October 2017) comprised 694 variables. The assessment of harmonization potential for the variables over 12 cohort-specific data sets resulted in 6799 (81.6%) of the variables being considered as harmonizable. A total of 307 017 participants were included in the harmonized data set. Through the cohort data portal, researchers can find information about the definitions of variables, harmonization potential, algorithms applied to generate harmonized variables and participant distributions.
The harmonization process enabled the creation of a unique data set including data on health and risk factors from over 307 000 Canadians. These data, in combination with complementary data sets, can be used to investigate the impact of biological, environmental and behavioural factors on cancer and chronic diseases.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, UILJ, UKNU, UL, UM, UPUK
PDF
