Document Type

Article

Publication Date

11-1-2022

Publication Title

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz

Keywords

JGM, Humans, Rare Diseases, Germany, Databases, Genetic, Information Storage and Retrieval, Phenotype, Electronic Health Records

JAX Source

Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz. 2022;65(11):1126-32

Volume

65

Issue

11

First Page

1126

Last Page

1132

ISSN

1437-1588

PMID

36149471

DOI

https://doi.org/10.1007/s00103-022-03591-2

Grant

P. N. Robinson wurde unterstützt und Open Access wurde finanziert von den National Insti- tutes of Health (NIH), USA [NHGRI 1U24HG011449- 01A1].

Abstract

The use of standardized data formats (data standards) in healthcare supports four main goals: (1) exchange of data, (2) integration of computer systems and tools, (3) data storage and archiving, and (4) support of federated databases. Standards are especially important for rare-disease research and clinical care.In this review, we introduce healthcare standards and present a selection of standards that are commonly used in the field of rare diseases. The Human Phenotype Ontology (HPO) is the most commonly used standard for annotating phenotypic abnormalities and supporting phenotype-driven analysis of diagnostic exome and genome sequencing. Numerous standards for diseases are available that support a range of needs. Online Mendelian Inheritance in Man (OMIM) and the Orphanet Rare Disease Ontology (ORDO) are the most important standards developed specifically for rare diseases. The Mondo Disease Ontology (Mondo) is a new disease ontology that aims to integrate data from a comprehensive range of current nosologies. New standards and schemas such as the Medical Action Ontology (MAxO) and the Global Alliance for Genomics and Health (GA4GH) phenopacket are being introduced to extend the scope of standards that support rare disease research.In order to provide optimal care for patients with SE in different healthcare settings, it will be necessary to better integrate standards for rare disease with electronic healthcare resources such as the Fast Healthcare Interoperability Resources (FHIR) standard for healthcare data exchange.

Comments

Dieser Artikel wird unter der Creative Commons Namensnennung 4.0 International Lizenz veröffentlicht, welche die Nutzung, Vervielfältigung, Bearbeitung, Verbreitung und Wiedergabe in jegli- chem Medium und Format erlaubt, sofern Sie den/die ursprünglichen Autor(en) und die Quelle ordnungsge- mäß nennen, einen Link zur Creative Commons Lizenz beifügen und angeben, ob Änderungen vorgenom- men wurden.

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