The GRDR-GUID: a model for global sharing of patients de-identified data

<p><strong>The GRDR-GUID: a model for global sharing of patients de-identified data</strong></p> <p><strong><em>Yaffa R. Rubinstein1; Matthew McAuliffe2; Manuel Posada3; Domenica Taruscio4; Stephen C. Groft1</em></strong></p> <p><em>1Office of Rare Disease Research/NCATS/NIH, 2Center for Information Technology/NIH, 3 Institute of Rare Diseases Research, IIER-ISCIII, 4National Centre for Rare Diseases, Istituto Superiore di Sanità (Rome, Italy)</em></p> <p>The Global Rare Diseases Patient Registry Data Repository-GRDR aggregates de-identified patient data, using CDEs, from various rare disease registries utilizing a Global Unique Identifier (GUID)(1). The GUID is a unique random alpha-numeric set of characters assignedto each patient-data that GUID is NOT directly generated from personally identifiable information (PII). The GUID system allows the patient to be followed across studies and registries can be used also to link to biospecimens.</p> <p>GUID Process</p> <p>User executes the GUID tool client locallyPII is enteredPII is combined and one-way hash codes are generatedThe one-way hash codes are sent to the GUID serverIf the hash codes match the server's hash codes for an existing GUID, then that GUID is returnedIf the hash codes do not match, then a new random GUID is generated and returned</p> <p>To generate a GUID for the subject, the following PII is required (these elements are included in the ORDR/GRDR list of CDEs) (PII is never sent to the GRDR system):</p> <p>Complete legal given (first) name of subject at birthComplete Legal additional name of subject at birth (if the subject has a middle name)Complete legal family (last) name of the subject at birthDay of birth (1-31)Month of birth (1-12)Year of birth (####)Name of city/municipality in which subject was bornCountry of birthPhysical sex of subject at birth (M/F)</p> <p>The GUID is an ID that allows researchers to share data specific to a study participant without exposing PII and to track participants longitudinally, across multiple research sites and across multiple studies. RD-CONNECT (IRDiRC framework) is assessing possibilities to implement a GUID strategy in their work and the NIH-GUID is one of the possibilities under consideration.</p> <p>(1) Johnson SB, Whitney G, McAuliffe M, etal. Using Global Unique Identifiers to Link Autism Collections. J. Am. Med. Inform. Assoc. July 17, 2010. 10.1136/jamia.2009.002063.</p

RD-Connect: an integrated platform connecting databases, registries, biobanks and clinical bioinformatics for rare disease research

<p><strong>Abstract:</strong></p> <p>Despite many examples of excellent practice, rare disease (RD) research is still frequently fragmented by data type and disease. Individual efforts often have little interoperability and almost no systematic connection of detailed clinical information with genetic information, biomaterial availability or research/trial datasets. Linking data at both an individual-patient and whole-cohort level enables researchers to gain a better overview of their disease of interest, while providing access to data from other research groups in a secure fashion allows researchers in multiple institutions to compare results and gain new insights. Funded by the EU Seventh Framework Programme under the International Rare Diseases Research Consortium (IRDiRC), RD-Connect is a global infrastructure project which links databases, registries, biobanks and clinical bioinformatics data used in RD research into a central research resource. RD-Connect’s primary objectives are:</p> <p>• Harmonisation and development of common standards for RD patient registries by developing a common registry infrastructure and data elements</p> <p>• Harmonisation and development of common standards and catalogue for RD biobanks that collect and provide standardised, quality-controlled biomaterials for translational research</p> <p>• Development of clinical bioinformatics tools for analysis and integration of molecular and clinical data to discover new disease genes, pathways and therapeutic targets</p> <p>• Development of an integrated platform to host and analyse data from omics research projects</p> <p>• Development of mechanisms for incorporating patient interests and engaging with stakeholders</p> <p>• Development of best ethical practices and a proposal for a regulatory framework for linking medical and personal data related to RD.</p> <p>RD-Connect will accept data generated by IRDiRC projects such as EURenOmics, which focuses on causes, diagnostics, biomarkers and disease models for rare kidney disorders, and Neuromics, which uses next generation whole exome sequencing to increase genetic knowledge of rare neurodegenerative and neuromuscular disorders. The “siloed” nature of individual research efforts is a continued bottleneck for cutting-edge research towards diagnosis and therapy development in RD. RD-Connect aims to unite existing infrastructures and integrate the latest tools in order to create a comprehensive combined omics data, biobanking, data analysis and patient registry platform for RD used by researchers across the world.</p

RD-Connect: first year review

<p>In its first year of operation, RD-Connect has successfully achieved its objectives for the period and has begun to establish its position as an important part of the global rare disease research infrastructure. Owing to the need to integrate with existing initiatives, the primary focus of the year has been on ensuring that RD-Connect activities are fully aligned with the needs of the associated projects that will submit data to the system, and on developing interoperability with related tools and projects operating in the same area.<br>Achievements include:<br>• Established strong collaborations with EURenOmics and Neuromics<br>• Incorporation of new associated partners involved in related work<br>• Representation on IRDiRC Scientific Committees and working groups has helped ensure harmonisation with IRDiRC activities<br>• The foundations for the integrated platform have been put in place, ensuring interoperability with other systems and meeting the requirements of IRDiRC projects generating omics data that will be linked with RD-Connect<br>• The first set of data from NeurOmics and EURenOmics will be uploaded in early 2014 after which time data from other IRDiRC projects may be accepted<br>• Various suites of clinical bioinformatics tools to extract knowledge from high throughput experiments, clinical databases and biobanks are being developed<br>• Extensive engagement with ontology developers and the associated projects has ensured that the submitted omics data will be accompanied by standardised phenotypic descriptions using HPO<br>• An extensive mapping exercise carried out jointly with the registry and biobanking WP has resulted in a list of patient registries and biobanks that will now be surveyed to establish their research focus, utility for research and invited to participate in RD-Connect activities<br>• Progress in evaluating the various options to implement a globally unique identifier<br>• Progress towards the development of the biobank catalogue, database structure and biobanking standards<br>• Proactive engagement with the ethical issues raised by omics experiments and patient data sharing<br>• Draft charter with principles and template for sharing and access to data</p> <p> </p