Towards an Undiagnosed Diseases Program in NSW

The Undiagnosed Diseases Program (UDP) aims to solve the most challenging medical mysteries by bringing together a multidisciplinary team of experts and providing access to the latest technologies. Starting as a program in the U.S. administered by the National Institutes of Health (NIH) and the National Human Genome Research Institute (NHGRI), the program is now being extended internationally through the Undiagnosed Diseases Network International (UDNI). The Australian Undiagnosed Diseases Program was launched in Perth in 2015.

Inaugural meeting - 27 June 2016 at the Garvan Institute of Medical Research

The inaugural meeting to discuss the establishment of a NSW UDP node was convened by Professor Andreas Zankl. We hosted Professor Hugh Dawkins, Dr Gareth Baynam and Ms Stephanie Broley from Perth who provided invaluable expertise and lessons learned from the establishment of the first UDP node in Australia.

The objectives for the day were to:

  • Learn from the experience of Western Australia in their Undiagnosed Diseases Program (UDP)
  • Discuss practical steps towards a UDP node or nodes in NSW
  • Determine capabilities available to a UDP node
  • Draft processes and workflows for considering cases for a UDP node
  • Identify individuals who could be involved in the UDP node’s workflows

The event consisted of presentations and a 2 hour workshop.

Presentations were given by:  

Title

Presenter

Policy, the transformative step for people living with Rare and Undiagnosed Diseases

Video

Professor Hugh Dawkins (Office of Population Health Genomics – WA Department of Health)

An overview of the UDP and the WA experience

Video

Clinical Associate Professor Gareth Baynam (Genetic Services of WA)
Steps towards a UDP node in NSW Professor Andreas Zankl (Sydney Children’s Hospital Network, Westmead)
Patient Archive - an electronic coordination platform for the UDP Dr Tudor Groza (Kinghorn Centre for Clinical Genomics)
Using WGS to solve undiagnosed diseases Associate Professor Marcel Dinger (Kinghorn Centre for Clinical Genomics)
Real data: genomic diagnoses rare diseases clarified Dr Tony Roscioli (Kinghorn Centre for Clinical Genomics)
Health services perspectives and potential benefits to patients
Associate Professor Yvonne Zurynski (Sydney Children’s Hospital Network, Westmead)

 

A productive discussion was had in the afternoon workshop. Discussion points included:

  • Different places around the world have set up the Undiagnosed Diseases Program (UDP) in different ways. All are sharing their data.
  • Western Australia constituted the first clinical service implementation of the UDP. The Program works best when both clinical and research services work together.
  • For the Program to be successful, there should be a fluid commitment from clinicians in a variety of different specialties (interdisciplinary). The conversations between the different specialties are important.
  • In the beginning champions are needed to promote the Program, people who think it is worthwhile and will invest their time into the Program.
  • The UDP is a good way to disseminate genomic knowledge through the hospital.
  • The Western Australian experience:
    • Have implemented a discrete process. Currently accept one new case per month. Cases are returned to the referring clinician after one month if a diagnosis is not made.
  • Having a coordinator is key to the success of the Program.
  • NSW might have more than one node, as NSW is more decentralised than WA.
  • Location of nodes will be decided by local initiative.
  • The importance of Policy in translating knowledge into health benefit.
  • Funding should come from the Local Health Districts as this is a valuable clinical service, not a research project. First need to prove the utility of the Program and then funding will be more likely. To prove that the Program is valuable, need very well characterised case studies with very detailed data, as well as policy implementation. 
  • A second meeting will be held later in the year.

For more information please contact .

UDP workshop 27 June 16 

 Participants of the inaugural UDP NSW meeting.