House debates

Monday, 24 June 2013

Private Members' Business

Rare Diseases

8:33 pm

Photo of Jane PrenticeJane Prentice (Ryan, Liberal Party) Share this | Hansard source

I rise to speak on the member for Shortland's motion regarding rare diseases. As the motion notes, approximately 10 per cent of the Australian population is directly affected by one or more of 8,000 rare diseases, of whom 400,000 are children. In total there are as many as 1.2 million Australians with a rare disease, the same number of Australians affected by diabetes. With a large number of diseases which individually only affect a small number of people, advances in medical treatments have been slow for three reasons: firstly, pharmaceutical companies have no market on which to base investment in treatments; secondly, health authorities do not deem them a public health issue when compared to other more prevalent diseases; and, lastly, the rarity of a disease means rarity of data, which can preclude the medical community from conducting research.

These diseases often mean a life cut short, all the while relying on expensive therapeutic treatment, if a treatment does in fact exist. One of those affected is Doug Wheller in my electorate. In 2009 he was diagnosed with Pompe disease, a disease so rare it affects only 25 people in Australia. After suffering a near fatal heart attack Doug has relied on a drug called Myozyme, which has been provided to him under a compassionate access scheme operated by the pharmaceutical company which manufactures the drug. Unfortunately, the Pharmaceutical Benefits Advisory Committee has continued to reject providing support for people like Doug to access life-saving treatment and the compassionate access scheme is closing to new patients, which could have a disastrous impact on these patients and their families.

Pompe disease is just one of the 8,000 rare diseases from which Australians can suffer, but Doug's story draws attention to the incredible difficulty that they have in gaining appropriate recognition and support from the government. However, the research community is finally making inroads into learning more about rare diseases, of which approximately 80 per cent are genetic in origin. These diseases are further complicated by the fact that genetic mutations vary by location and can occur across the entire human genome, making their origin very difficult to detect.

Very important research in this area is being undertaken at the University of Queensland, particularly at the Institute for Molecular Bioscience. In October last year, Dr Ryan Taft was awarded a University of Queensland Foundation Research Excellence Award after analysing the genome of Massimo Damiani, a toddler suffering from Leukodystrophy. With that grant, Dr Taft and his global team of researchers were able to conduct genomic sequencing of Massimo and his parents, and in turn, successfully identify the gene behind this genetic disease. This is a crucial step forward in being able to identify where and why genetic mutations have occurred, and is potentially a stepping stone in devising therapeutic interventions. As Massimo's father said, 'Although there is currently no cure for leukodystrophy, achieving a diagnosis gives us hope. It is the vital first step to one day developing a treatment for Massimo.' Dr Taft's goal is to dramatically reduce the number of unresolved cases of rare genetic disease in children. As Dr Taft said, 'This is the future of medicine—doctors, including clinical specialists like MRI experts and genomics researchers, working together to diagnose and develop treatments for people with unknown diseases.'

I recently had the opportunity to hear from Professor John Mattick, Director of the Garvan Institute of Medical Research, and Geoff Dixon, Chair of the Garvan Research Foundation. As the medical community continues to improve in genomic mapping techniques, so does the ability to predict how one's genes are expressed and whether someone may one day suffer from a rare disease. The medical community may only be scratching the surface, but advances in genomic mapping help us understand diseases where a genetic element is likely to be involved, such as schizophrenia.

If we know this information, it does raise very serious legal questions, in particular whether insurance companies can discriminate against pre-existing conditions based on data from genetic testing. Future parliaments will no doubt be required to consider their role in this area—although such considerations may come sooner than we think.

Lastly, I want to congratulate Rare Voices Australia and all those Australians who participated in the world's first International Rare Diseases Research Consortium, held this year in April. This consortium has highlighted the amazing results that are possible with truly global cooperative research. I am heartened that these advances in medical research promise a much brighter future for rare disease patients. I commend the motion of the member for Shortland.

Debate adjourned.


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