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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.

Studies in Health Technology and Informatics
|May 12, 2026
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Summary

A new platform connects metabolic labs, clinicians, and home monitoring for phenylketonuria (PKU) management. This improves communication and data integration for better patient care without point-of-care devices.

Keywords:
Digital HealthGenetic DiseasesInbornPatient Care ManagementPhenylketonuriaRare DiseasesRemote Patient MonitoringTelemedicine

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Area of Science:

  • Metabolic disorders
  • Digital health solutions
  • Rare disease management

Background:

  • Phenylketonuria (PKU) management necessitates frequent blood phenylalanine (Phe) monitoring.
  • Current reliance on specialized metabolic laboratories (SML) leads to fragmented communication due to the absence of point-of-care (PoC) home devices.

Purpose of the Study:

  • To develop an integrated platform connecting SML diagnostics, clinicians, and home monitoring for PKU management.
  • To bridge the communication gap in PKU care.

Main Methods:

  • Developed GenKom-PKU, a browser-based platform.
  • Enabled integrated patient data visualization and streamlined communication among stakeholders.
  • Incorporated clinician and patient dashboards for Phe monitoring and dietetic communication.

Main Results:

  • Alpha-testing (n=12) confirmed the technical feasibility of the GenKom-PKU platform.
  • Demonstrated efficient data integration between SML and home monitoring.
  • Validated the platform's utility for Phe monitoring and dietetic communication.

Conclusions:

  • The developed platform effectively connects SML and patient-centered home care for rare diseases.
  • Addresses the need for integrated management in conditions lacking PoC devices but requiring high precision.
  • Facilitates improved communication and data flow for enhanced PKU patient care.