Rare Disease Diagnosis

Case management for Euroglycanet

Our partners in this EU-funded project consisted of universities and hospitals with international expertise in a rare genetic disease. The network was formed to promote early diagnosis and expert analysis of cases worldwide.

Its aim is to offer diagnostic services and expert diagnostics, integrate research activities in the field, and work towards the development of therapies, including for related disorders. Our role was to provide a Diagnostic and Research Management System in support of the network.

Customer Challenge

  • Improve access to world-class experts in a rare disease, managing sample flow through specialist diagnostic laboratories and, if necessary, managing cases through a research carousel.
  • Improve public and professional awareness by maintaining a locus-specific database within a public website.

Our Approach

  • As a full partner in the project we were able to participate in all workshops and meetings, allowing us to gain a real understanding of the diagnostic and research context.
  • We deployed Axiom Clarinet for Disease Diagnosis, and were able to quickly configure a system to support the diagnostic and research pathways. This allowed early and continuous feedback to inform successive refinements of the configuration, and suitable extensions to the product.

Customer Benefits

  • A fully web-based system allowing secure access by clinicians and researchers worldwide.
  • Managed processes, notifying users of their outstanding tasks and keeping them informed as cases progress through the diagnostic and research pathways.
  • Forms-based data entry, with automatic transfer of case data into a secure database.
  • Locus-specific database, allowing multidimensional searching of case data.
  • Special facilities for entering historic cases, which are an important resource for the locus specific database.
  • Case management facilities, including timeline views and summary pages.
  • Discussion forums, with automatic notification of new developments.
  • Configurable management of diagnostic pathways, feeding in to task management.
  • Automatic notification of case progression to case submitters and reviewers.
  • Anonymisation of patient data.
  • Full access control based on user roles.