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Data Quality in Rare Diseases Registries

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Rare Diseases Epidemiology: Update and Overview

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 1031))

Abstract

In the field of rare diseases, registries are considered power tool to develop clinical research, to facilitate the planning of appropriate clinical trials, to improve patient care and healthcare planning. Therefore high quality data of rare diseases registries is considered to be one of the most important element in the establishment and maintenance of a registry. Data quality can be defined as the totality of features and characteristics of data set that bear on its ability to satisfy the needs that result from the intended use of the data. In the context of registries, the ‘product’ is data, and quality refers to data quality, meaning that the data coming into the registry have been validated, and ready for use for analysis and research. Determining the quality of data is possible through data assessment against a number of dimensions: completeness, validity; coherence and comparability; accessibility; usefulness; timeliness; prevention of duplicate records. Many others factors may influence the quality of a registry: development of standardized Case Report Form and security/safety controls of informatics infrastructure. With the growing number of rare diseases registries being established, there is a need to develop a quality validation process to evaluate the quality of each registry. A clear description of the registry is the first step when assessing data quality or the registry evaluation system. Here we report a template as a guide for helping registry owners to describe their registry.

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Author information

Authors and Affiliations

  1. Centro Nazionale Malattie Rare, Istituto Superiore di Sanità, Viale Regina Elena 299, CAP, 00161, Rome, Italy

    Yllka Kodra & Domenica Taruscio

  2. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  3. Institute of Clinical Physiology, National Research Council, Pisa, Italy

    Alessio Coi, Michele Santoro & Fabrizio Bianchi

  4. FRCPCH Samson Gemmell Chair of Child Health, Consultant in Paediatric Endocrinology Royal Hospital for Children, Glasgow School of Medicine, University of Glasgow, Glasgow, Scotland, UK

    Faisal Ahmed

  5. National Information Center of Health Services Research & Health Care Technology, National Library of Medicine/National Institute of Health, Bethesda, MD, USA

    Yaffa R. Rubinstein

  6. French National Institute of Health and Medical Research, RaDiCo – Inserm UMR S 933, Paris, France

    Jérôme Weinbach

Authors
  1. Yllka Kodra
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  2. Manuel Posada de la Paz
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  3. Alessio Coi
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  4. Michele Santoro
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  5. Fabrizio Bianchi
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  6. Faisal Ahmed
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  7. Yaffa R. Rubinstein
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  8. Jérôme Weinbach
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  9. Domenica Taruscio
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Corresponding author

Correspondence to Yllka Kodra .

Editor information

Editors and Affiliations

  1. RDR and CIBERER, Instituto de Salud Carlos III, Madrid, Spain

    Manuel Posada de la Paz

  2. Centro Nazionale Malattie Rare, Istituto Superiore di Sanita, Roma, Italy

    Domenica Taruscio

  3. National Center for Advancing Translational Sciences, National Institutes of Health, Bethesda, Maryland, USA

    Stephen C. Groft

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Kodra, Y. et al. (2017). Data Quality in Rare Diseases Registries. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_8

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