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GenKom-PKU: Improving Patient-Provider Communication in Phenylketonuria
Moritz Henninger1, Alexander Höller2,3,4, Daniela Karall5
1Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria.
Background:
Phenylketonuria (PKU) management requires weekly blood phenylalanine (Phe) monitoring. Due to the lack of point-of-care (PoC) home devices, reliance on specialized metabolic laboratories (SML) causes fragmented stakeholder communication.
Objectives:
Aiming to bridge fragmented PKU management, we designed a platform connecting SML diagnostics, clinicians, and home-monitoring.
Methods:
GenKom-PKU was developed as a browser-based platform to enable integrated patient data visualization and streamlined stakeholder communication.
Results:
Featuring clinician and patient dashboards for Phe-monitoring and dietetic communication, alpha-testing (n =12) confirmed technical feasibility and efficient data integration.
Conclusion:
This approach effectively bridges the gap between SML and patient-centered home care for rare diseases lacking PoC devices but requiring high analytical precision and clinical assessment.
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