Suchergebnisse

The exchange of research data and physical specimens has become an issue of major importance for modern research. Many reports indicate problems with quality, trustworthiness and reproducibility of research results, mainly due to poor documentation of the data generation or the collection of specimens. The significant impact of flawed research results on health, economics and political decisions has frequently been stated. Consequently, professional societies and research initiatives call for improved and standardised documentation of the data and specimens used in research studies. Provenance information documents the evolution of an object and can be used to assess its quality and reliability. This deliverable defines components of distributed provenance information to enable interlinking of provenance information generated in different organisations involved in the research process, such as biobanks, research centres, universities or analytical laboratories. The distributed provenance information model builds on an existing provenance information standard, W3C PROV, and follows a general provenance composition pattern. Both W3C PROV and provenance composition pattern is described in this document. Since understanding of the term "provenance information" differs across different domains and research communities, this deliverable firstly harmonises this understanding by providing a general explanation of how provenance information is generated and used. In particular, this deliverable defines a connector, that is a provenance component containing technical information to traverse through provenance information. The connector is subsequently added to provenance information generated by different organisations. This deliverable also defines how to interpret identifiers of provenance structures in a distributed environment and how to include and interpret persistent identifiers of documented objects. This deliverable deals with the common provenance model developed as a part of a standardisation process in the ...

Biobanks have long existed to support research activities with BBMRI-ERIC formed as a European research infrastructure supporting the coordination for biobanking with 20 country members and one international organization. Although the benefits of biobanks to the research community are well-established, the direct benefit to citizens is limited to the generic benefit of promoting future research. Furthermore, the advent of General Data Protection Regulation (GDPR) legislation raised a series of challenges for scientific research especially related to biobanking associate activities and longitudinal research studies. Electronic health record (EHR) registries have long existed in healthcare providers. In some countries, even at the national level, these record the state of the health of citizens through time for the purposes of healthcare and data portability between different providers. The potential of EHRs in research is great and has been demonstrated in many projects that have transformed EHR data into retrospective medical history information on participating subjects directly from their physician's collected records; many key challenges, however, remain. In this paper, we present a citizen-centric framework called eHealthBioR, which would enable biobanks to link to EHR systems, thus enabling not just retrospective but also lifelong prospective longitudinal studies of participating citizens. It will also ensure strict adherence to legal and ethical requirements, enabling greater control that encourages participation. Citizens would benefit from the real and direct control of their data and samples, utilizing technology, to empower them to make informed decisions about providing consent and practicing their rights related to the use of their data, as well as by having access to knowledge and data generated from samples they provided to biobanks. This is expected to motivate patient engagement in future research and even leads to participatory design methodologies with citizen/patient-centric designed studies. ...

Rare diseases (RD) patient registries are powerful instruments that help develop clinical research, facilitate the planning of appropriate clinical trials, improve patient care, and support healthcare management. They constitute a key information system that supports the activities of European Reference Networks (ERNs) on rare diseases. A rapid proliferation of RD registries has occurred during the last years and there is a need to develop guidance for the minimum requirements, recommendations and standards necessary to maintain a high-quality registry. In response to these heterogeneities, in the framework of RD-Connect, a European platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research, we report on a list of recommendations, developed by a group of experts, including members of patient organizations, to be used as a framework for improving the quality of RD registries. This list includes aspects of governance, Findable, Accessible, Interoperable and Reusable (FAIR) data and information, infrastructure, documentation, training, and quality audit. The list is intended to be used by established as well as new RD registries. Further work includes the development of a toolkit to enable continuous assessment and improvement of their organizational and data quality. ; Supported by the RD-CONNECT: an integrated platform connecting registries, biobanks and clinical bioinformatics for rare disease research, which received funding from the European Union within the framework of FP7 Collaborative projectHEALTH.2012.2.1.1-1-C [Grant agreement number: 305444]. Supported partly also by EuRRECa: European Registries for Rare Endocrine Conditions, which received funding from the European Union within the framework of CHAFEA Health Programme (2014–2020) [Grant agreement number: 777215] and the COST Action CA16210 "Maximising Impact of research in NeuroDevelopmental Disorders". ; Sí