An Ontology for Specifying Regulation-Compliant Genetic Privacy Policies

Genetic information provides important diagnostic data from patients to their health care providers and researchers that match phenotype and genotype. However, both diagnostic and research data providers must be confident that using this data for either purpose protects the data provider from foreseeable privacy breaches. In order to do so, Federal and State laws are in place to specifically address genetic information in addition to the laws established to protect generic health information. State genetic privacy laws diverge widely in their level of detail and constraints on releasing data, criteria for evaluating access to such data, data owner consents required to release data, and conditions for using released data. A rule-base specifying these variations can be used as a policy language to enforce data releases from electronic health records and gene pools. In order to satisfy this need, we describe a comprehensive ontology for genetic privacy based on existing applicable laws. Our ontology is used in ontological rule bases within medical workflows that are directly integrated with electronic health records. As shown in our ongoing work, this integration provides a solid foundation for enforcing laws and regulations in preventing unlawful disclosures of genetic information. KeywordsGenetic Privacy; Electronic Medical Records; Ontology; Health Care; Genomic Medicine.

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