07 August 2015

WA reveals bold plan to tackle undiagnosed diseases

Western Australia’s Department of Health could soon offer fresh hope to Western Australians with baffling medical conditions.

The Department plans to become the first public health system in the world to offer a clinical program focussed solely on finding answers for people with mysterious and long-standing medical conditions.

The Department’s vision for the program is modelled on the US National Institutes of Health (NIH) Undiagnosed Diseases Program (UDP), a hugely successful initiative which, since its inception in 2008, has provided diagnoses for about 25 per cent of patients referred to it and, in the process, discovered close to 60 new and rare genetic conditions, laying the foundation for new treatments. The Program has now expanded to an Undiagnosed Diseases Network (UDN), with member sites throughout the United States.

Next week, a who’s who of the genetics world will arrive in Perth to attend the inaugural Australasian Undiagnosed Disease Program workshop and help lay the groundwork for a Western Australian model.

Among the attendees will be UDN founders, Dr. William Gahl, Clinical Director of the National Human Genome Research Institute, NIH and Dr Stephen Groft, former Director of the Office of Rare Diseases Research, NIH.

Dr Gahl said the Undiagnosed Diseases Program had provided a strong framework for studying rare and difficult-to-diagnose conditions and that such efforts had contributed to a better collective understanding of disease biology in general.

“There’s been incredible interest around the world in rare disease research, and the UDN can serve as a catalyst for this,” he said.

Western Australia’s UDP is likely to be based at Genetic Services of Western Australia (GSWA), WA’s sole provider of Statewide clinical genetics services which reviews children with particularly complex, unexplained medical conditions that appear to have a genetic origin.

GSWA Director Jack Goldblatt said advances in molecular genetics arising from the ground-breaking Human Genome Project had paved the way for such a program.

“That monumental project to sequence the genetic make-up of a single individual took 13 years, cost more than $3 billion and involved thousands of scientists. But thanks to that effort, one scientist can now undertake the same work in just one day – and for the cost of about $1000.”

Professor Goldblatt said the form of a WA undiagnosed diseases program was yet to be decided and that  input from international experts, leading local researchers, clinicians and patient advocates attending the workshop would help determine its final shape.

“What we anticipate however, is starting with a core of two of three clinical geneticists and other specialists who will take on one very difficult case a month and really examine and review that case. This core group will call in other specialists and experts as necessary,” he said.

“The group will throw everything into trying to solve the case so that at the end of the day, even if a definitive diagnosis can’t be made, the person being investigated will know that every avenue available at that point in time had been explored.  As new technologies and discoveries are made, these cases may be revisited.”

Professor Goldblatt said the program would tackle the really difficult cases for which the health system had so far been unable to provide answers but for which there were indicators a diagnosis could be made.

“These are cases where the person has probably been to numerous doctors and continually referred on because nobody knows how best to help them,” he explained.

Professor Goldblatt said a European study revealed that 25 per cent of people with even a relatively well-known rare disease had had to wait five to 30 years for a diagnosis and in 40 per cent of cases, that diagnosis was wrong.

“In their quest for a diagnosis such people would undergo numerous tests, many of which may not have been necessary if a diagnosis was known and some would have had inappropriate treatments,” he said.

“What we hope to achieve through the establishment of this program, is to raise awareness of rare diseases and encourage health professionals to consider the possibility of a rare disease diagnosis for the patient who displays symptoms for which no other explanation can be found.”

Professor Goldblatt believes a Western Australian Undiagnosed Diseases Program will be a beacon for doctors with such patients and is confident such a program can commence in Western Australia using existing infrastructure and resources. He hopes that, like the US UDN model (which is made up of seven clinical sites and a co-ordinating centre) it will eventually expand its reach to become a nationwide program and part of a regional and global network.

About rare diseases

  • Rare diseases are conditions – usually genetic in origin ­­– that affect fewer than one in 2000 people.
  • Rare diseases are commonly life-threatening or chronically debilitating, cannot be prevented, are incurable, have no effective treatments and are associated with significant pain and suffering.
  • People with rare diseases are likely to have multi-systemic dysfunction and complex care needs across a wide range of health services.
  • Estimates suggest there may be up to 8000 different rare diseases, collectively affecting up to 8 per cent of the population.
  • In Western Australia this equates to approximately 190,000 people, of whom about 60,000 would be children.
  • Some rare diseases are so uncommon that they affect just one family in all Australia. This makes diagnosing such conditions a real challenge.
  • Rare diseases include conditions such as muscular dystrophy, cystic fibrosis, neurofibromatosis, early-onset Parkinson’s disease, Huntington’s disease and early-onset Alzheimer’s.

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