Enabling precision medicine through open standards in pharmacogenetics: data model development and Delphi study (Preprint)

• DOI: 10.2196/preprints.65689
• Publication Date: 2024-12-18T17:46:47Z
• Authors: Videha Sharma; John McDermott; Jessica Keen; Heidi Koikkalainen; Ian McNicoll; William Newman

<sec> <title>BACKGROUND</title> Pharmacogenetics, a subset of precision medicine, leverages genetic testing to improve the safety and efficacy prescribed medicines. Despite compelling evidence supporting its clinical economic impact, widespread implementation remains limited. An established barrier is lack interoperable health information technology solutions that integrate pharmacogenetic data into frontline workflows, particularly for non-specialist clinicians. Open standards, such as openEHR Fast Healthcare Interoperability Resources (FHIR) could address this by creating standardised, vendor-neutral formats test results thus enable medicine at scale. </sec> <title>OBJECTIVE</title> This study aimed develop validate open standards represent using map these HL7 FHIR interoperability within healthcare systems. <title>METHODS</title> We developed baseline model synthesizing existing literature, genomic sequencing outputs, international specifications. Using openEHR’s Archetype Designer, an iterative design process was followed, informed workshops with Global Alliance Genomics Health (GA4GH). The subsequently underwent two rounds Delphi peer review involving 24 experts across 10 countries providing total 30 reviews both rounds. Mapping performed manual automated approaches, including FHIR-Connect tool. <title>RESULTS</title> A standardised developed, delineating "test results" from therapeutic implications streamline decision support (CDS). final incorporated globally recognized terminologies (e.g., SNOMED CT, HGNC) endorsed expert group. Published on Clinical Knowledge Manager platform, achieved consensus real-world deployment. mapping demonstrated successful bidirectional compatibility, potential integration English National Service (NHS) Both approaches proved feasible, latter enabling scalable reusable transformations. <title>CONCLUSIONS</title> robust framework storing exchanging results, addressing key barriers implementation. By separating leveraging FHIR, proposed ensure semantic harmonisation interoperability. These findings lay groundwork pharmacogenetics, CDS routine care. Future efforts should focus refining models, enhancing policy frameworks, promoting cross-disciplinary collaboration advance medicine. <title>CLINICALTRIAL</title> Not applicable