Jill Hall (Shortland, Australian Labor Party) Share this | Hansard source

Rare diseases are life-threatening or chronically debilitating diseases with an estimated prevalence of one in 2,000. In Australia, 10 per cent of our population is directly affected by one or more of 800 diseases. Of those people, 400,000 are children. Collectively, that is about 1.2 million Australians with a rare disease, which is the same number of people as those affected by diabetes. But there is a difference. Diabetes is one disease. There is one disease that you need to research. There is a critical mass of people with that one disease who can then influence the decisions of government, whereas, when you have a number of small diseases with very few people who are affected by each disease, their voice is small. Pompe's disease is one that comes to mind. There are many motor neurone diseases, and there are types of cystic fibrosis that have very small numbers of people who are affected by them. And, because there is no critical mass, the research into those diseases, the treatments and the drugs that are needed do not eventuate.

Because these diseases are so rare, and because collectively they are so uncommon, it does impact on people. There is an inadequate rate of diagnosis. A person will go to a doctor with a set of symptoms and, because the disease is so rare, it often takes a very long time before a diagnosis can be made. The diagnosis and management—an early diagnosis, in many cases—is really important so that the disease can be managed. For most people with a rare disease, to actually have a diagnosis is a major achievement. In developed countries, 60 per cent of individuals with intellectual impairment do not have a diagnosis.

Establishing a diagnosis for patients with rare diseases provides an answer for families, guides management and enables accurate genetic counselling for family members. Identifying a genetic basis is the first step towards understanding biological pathways and developing targeted treatments. Only a minute proportion of people have a therapeutic option. Individuals with rare diseases often require complex management and multidisciplinary services. Access to evidence based information, education, expert opinion and continuity of care is very limited in Australia.

Only 3.5 per cent of rare diseases are coded by the current ICD—that is, the International Classification of Diseases. Poor codification and surveillance mean that this group of Australians is invisible to government. Inadequate epidemiological data leads to an inability to study burden of illness at a personal, community and economic level, and this inadequate data also reduces the patients' recruitment into research studies. The full extent of research in Australia is unknown, although some patient registers, biobanks and sequencing projects are in operation in research silos.

There have been a number of responses by governments around the world. In the US, there is the Orphan Drug Act, and Singapore and the EU also have orphan drug acts, but the bottom line is that there is a lack of knowledge. The bottom line is that we need to know more about the people who are living with a rare disease. The bottom line is that I believe that there needs to be a register. A national register of rare disease should be investigated, and I strongly support its establishment. I would also like to congratulate all those who have been involved with the research and those people from Rare Voices Australia who attended the first International Rare Disease Research Consortium this year. This is an important issue and should be supported by the House.

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