Undiagnosed Disease Program (UDP)

Australia's first Undiagnosed Diseases Program (UDP) is currently underway in Western Australia. The UDP-WA aims to provide a definitive diagnosis for people with complex and long-standing medical conditions.

The program, adapted for the WA public health system from the highly successful United States National Institutes of Health UDP (NIH-UDP) , was announced in late 2015. The UDP-WA officially commenced in March 2016, when a cross-disciplinary Expert Panel met to consider its first case.

The focus of the program is currently on children with undiagnosed conditions who meet all of the following criteria:

  • are at least 6 months old
  • have chronic, complex and typically multisystem diseases
  • are well known to WA Health, specifically Princess Margaret Hospital and the UDP-WA team
  • have had multiple specialist assessments and hospital admissions
  • have clinical factors supporting the possibility of obtaining a diagnosis with current approaches, yet remain undiagnosed

The UDP-WA aims to take on one new patient per month. The program is still in its early stages and is currently not accepting external referrals.

What are the chances of diagnosis?

The UDP-WA reviewed its first case in March 2016 and was very fortunate to be able to find a definitive diagnosis for this patient. While the aim of the program is to provide a diagnosis for every patient admitted, it is expected that one in four patients will receive a diagnosis; the same diagnostic rate as the NIH-UDP. For those who do not receive a diagnosis, the team aims to provide a better understanding of the condition and will endeavour to use this information to develop an improved care management plan.

Who delivers the program?

A team of specialist doctors and health professionals are delivering the UDP-WA. Included in this team are a Program Director who oversees the program and a Program Coordinator who works closely with patients and their families to manage their appointments. Families will also be provided genetic counselling services through the program. A key component of the team is an 'expert panel'. This expert panel is made up of doctors from a range of medical specialties such as genetics, general paediatrics, endocrinology, neurology, gastroenterology, dermatology, oncology and respiratory medicine. They will come together at least once to review the medical history of patients referred to the program.

How is the program delivered?

The program is delivered in seven key stages:

  • The expert panel meets to review medical cases before patients are admitted to the program. During this meeting they map out a series of tests and examinations they believe will optimise the chance of finding a diagnosis.
  • Parents/caregivers of children are invited to take part in the program and following their acceptance, have a conversation with the Program Coordinator to learn about the program.
  • Patients attend a day facility at Princess Margaret Hospital for up to five days where they will undertake the range of tests and examinations set out by the expert panel.
  • The UDP-WA team shares de-identified data about the child with national and international partners to maximise the opportunity for finding a diagnosis.
  • The team will determine whether a definitive diagnosis can be found at this stage.
  • A report is written for patients which outlines whether a definitive diagnosis can be found as well as discussing management options for the condition.
  • Parents/caregivers of children in the program attend a meeting to discuss the findings.

There are multiple approaches to improve diagnosis for those with chronic, complex health problems. The NIH-UDP has generously shared its knowledge about running an undiagnosed diseases program and this was essential in the development of the UDP-WA. WA Health hopes the UDP-WA can help by sharing the knowledge and insights it gains from implementing the program with other states in Australia.

More information