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[Rare-disease data standards].

Peter N Robinson1,2, Holm Graessner3

  • 1The Jackson Laboratory for Genomic Medicine, 10 Discovery Drive, 06032, Farmington, CT, USA. peter.robinson@jax.org.

Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz
|September 23, 2022
PubMed
Summary
This summary is machine-generated.

Healthcare data standards facilitate data exchange and system integration, crucial for rare disease research and care. Key standards like HPO, OMIM, ORDO, and FHIR are essential for advancing rare disease understanding and treatment.

Keywords:
NosologyOntologyRare diseasesStandards for healthcare dataTerminology

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Area of Science:

  • Bioinformatics
  • Medical Informatics
  • Genomics

Context:

  • Standardized data formats are crucial in healthcare for data exchange, system integration, storage, and federated databases.
  • These standards are particularly vital for rare disease research and clinical care, enabling better data management and analysis.

Purpose:

  • This review introduces healthcare data standards and highlights those commonly used in rare disease research.
  • It aims to provide an overview of existing standards and emerging ones that support rare disease studies.

Summary:

  • The review discusses the Human Phenotype Ontology (HPO) for phenotypic abnormality annotation and phenotype-driven genomic analysis.
  • It covers disease standards like Online Mendelian Inheritance in Man (OMIM), Orphanet Rare Disease Ontology (ORDO), and the integrative Mondo Disease Ontology (Mondo).
  • Emerging standards such as the Medical Action Ontology (MAxO) and GA4GH phenopackets are introduced, alongside the importance of integrating rare disease standards with electronic health records (EHRs) like Fast Healthcare Interoperability Resources (FHIR).

Impact:

  • Effective integration of rare disease standards with electronic healthcare resources like FHIR is necessary for optimal patient care across different healthcare settings.
  • Adoption of these standards will improve the efficiency and effectiveness of rare disease research and clinical practice.