HL7 FHIR

FHIR (Fast Healthcare Interoperability Resources) is an international standard developed by Health Level 7 (HL7) for exchanging healthcare information electronically. Initially designed as a transaction format to facilitate data exchanges between healthcare systems, FHIR provides a flexible and modular framework. While it is essential for ensuring interoperability across healthcare information systems, its role as a transaction format also enables the development of specialized extensions that provide the precision required for complex rare disease (RD) analysis. Therefore, it remains a critical tool for enabling the smooth exchange of electronic healthcare data between different platforms and applications.

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For our RD-CDM and the corresponding RareLink-CDM we utilise the

FHIR and Rare Diseases (RDs)

In the context of RDs, FHIR plays a key role in improving data sharing across institutions and research centers. Due to the scarcity and fragmentation of RD data, standardized data exchange is crucial. FHIR enables the standardization of clinical and genomic data, ensuring that RD-specific information, such as phenotypic traits and genetic variants, can be captured and shared in a structured manner. Despite its limitations in handling the complexity of some RD data, FHIR’s widespread adoption ensures that RD data can be integrated with other healthcare information systems, making it easier to collaborate and share insights across various fields.

The HL7 International Patient Summary (IPS) is a FHIR-based standard that aims to provide a concise, standardized summary of a patient’s key health information. This summary is designed to facilitate seamless healthcare transitions, particularly for patients with complex health needs, such as those with rare diseases. By standardizing data elements such as medications, allergies, and relevant medical history, the IPS enhances communication between international healthcare providers. This is especially important for RD patients, as the inherent data scarcity requires data exchange and research on an international level - such as by the European Reference Networks (ERNs).

The HL7 Genomics Reporting standard is designed to facilitate the exchange of detailed genomic data alongside pertinent clinical information, including phenotypic observations. In the context of rare diseases, this standard is critical for delivering the precise genomic and phenotypical insights needed for accurate diagnoses and personalized treatments. By structuring variant data, gene-disease associations, and other molecular findings, HL7 Genomic Reporting enables healthcare providers and researchers to effectively communicate complex results. The standard supports extensions and customization, making it an essential tool for advanced genomic medicine and rare disease data.

FHIR Overview - Clinicians

FHIR facilitates the exchange of healthcare information, including clinical, administrative, public health, and research data across various settings, such as in-patient and community care. It is applicable to both human and veterinary medicine and aims for global usability.

Targeted at software developers and organizations creating interoperable solutions, FHIR does not prescribe clinical best practices or provide user interface and workflow guidance, as these are outside its scope. The specification focuses on the technical aspects of exchanging clinical information between electronic systems, presenting an overview that prioritizes relevant content for the clinical community while allowing for deeper exploration of technical details if desired.

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FHIR Overview - Developers

FHIR is designed to enable information exchange to support the provision of healthcare in a wide variety of settings. The specification builds on and adapts modern, widely used RESTful practices to enable the provision of integrated healthcare across a wide range of teams and organizations.

The intended scope of FHIR is broad, covering human and veterinary, clinical care, public health, clinical trials, administration and financial aspects. The standard is intended for global use and in a wide variety of architectures and scenarios.

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FHIR Overview - Architects

FHIR comprises two main components: Resources and APIs. Resources are information models that define the essential data elements, constraints, and relationships relevant to healthcare, analogous to physical models in XML or JSON. APIs offer well-defined interfaces for application interoperability, primarily using RESTful methods. Together, they establish a framework for defining healthcare business objects, such as patients and procedures, facilitating their computable implementation and sharing through standardized interfaces.

Operationally, HL7 governs the standards development process that determines the definition and existence of resources. Additionally, FHIR provides mechanisms to tailor resources for specific contexts, ensuring adaptability to diverse healthcare needs through profiling Resources.

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Further Reading