Evaluating and Extending the Informed Consent Ontology for Representing Permissions from the Clinical Domain

Area of Science:

• Biomedical Informatics
• Ontology Engineering
• Bioethics

Background:

• Clinical permissions for reusing residual biospecimens and health data are complex and lack standardized formal representation.
• Existing ontologies do not adequately capture the nuances of clinical consent for data and biospecimen reuse.
• This gap hinders efficient and responsible secondary use of valuable clinical resources.

Purpose of the Study:

• To evaluate, revise, and extend the Informed Consent Ontology (ICO).
• To specifically enable the formal expression of clinical permissions for the reuse of residual clinical biospecimens and health data.
• To ensure interoperability with existing biomedical ontologies.

Main Methods:

• A formative evaluation design with a bottom-up modeling approach was employed.
• Data were gathered from US federal regulations and clinical consent forms.
• Iterative modeling of regulations and consent sentences, followed by community reflection and negotiation.

Main Results:

• The extended ICO includes 52 classes and 12 object properties, demonstrating its suitability for the clinical domain.
• 26 classes were imported from other ontologies, and 12 new classes were recommended.
• The study successfully addressed the critical gap in formally representing clinical permissions.

Conclusions:

• The enhanced ICO provides a machine-interpretable and interoperable tool for the responsible, large-scale reuse of residual clinical biospecimens and health data.
• This work makes crucial content available to the OBO Foundry, promoting integration with other biomedical ontologies.
• The formalized representation of clinical permissions facilitates ethical and efficient data sharing in research.