MEDIA RELEASE 22 FEBRUARY 2013 Funding priority for orphan diseases Professor John Christodoulou, a Director of the Western Sydney Genetics Program, Children’s Hospital at Westmead in Sydney, says that identifying rare, genetic (orphan) diseases has become a funding priority. In recognition of the importance of the need for equitable access to specialized genetic testing for patients, the Royal College of Pathologists of Australasia has been working closely with the Federal Government for the past 12 months to reach an agreed framework to tackle this critical issue. “There are about 8,000 rare or orphan diseases, collectively affecting as much as 10% of the Australian population, and collectively have far reaching health, psychosocial and financial implications to the community. Moreover, with advances in cutting edge genetic technologies, new genetic disorders are being described on a weekly basis,” says Prof Christodoulou. “Finding effective treatments has become a serious public health concern. Pathologists need to have access to the right technology in order to reach a diagnosis in the quickest, most efficient and most cost effective way.” Many orphan diseases are inherited and are caused by mistakes in genes (mutations) which interfere with the normal functioning of that gene. Such changes in human cells and organs can play a role in the development of diseases and in their transmission from parent to child. In the last five years, technology and the ability to analyse large amounts of data has become more advanced, however most DNA testing is not currently funded by the Medicare Benefits Schedule. “We can now screen every single gene in the human body (the so-­‐called human genome) using rapid and affordable sequencing technology. Currently, most DNA tests are either funded by State hospitals or by the patients themselves,” says Prof Christodoulou. “It is vital that pathologists have access to this type of technology in order to have a better understanding of the genetic basis of a patient’s disease. This inevitably would lead to more accurate genetic counseling for families, and with a better understanding of the underlying biology of the disorder, access to more effective therapies and better personalized care,” says Prof Christodoulou. The costs to patients for diagnosis, treatment, and other related expenses can be exorbitant. Increased funding would positively benefit patients, all of whom tend to share many common frustrations. “Getting an accurate diagnosis can often take years, and patients often need to travel long distances to visit the few doctors knowledgeable about their illness. By speeding the diagnostic process up and making it more efficient, we can help to get patients off the diagnostic treadmill and find an answer to the problem, potentially avoid invasive testing such as biopsies,” says Prof Christodoulou. British Prime Minister, David Cameron, recently earmarked $100 million to this area of medicine in the UK. He announced plans in December to introduce high-­‐tech DNA mapping for cancer patients and those with rare diseases, within the NHS. The introduction will see up to 100,000 patients over three to five years having their whole genome (personal DNA code) sequenced. “In the majority of cases, where there is a primary gene that is the cause of the disease, there is a real risk that multiple family members could be affected. By identifying the gene, we can begin to understand the biology behind the disease which helps parents and extended family members who are at genetic risk,” says Prof Christodoulou. Dr Tracy Dudding is a Consultant Clinical Geneticist and is co-­‐founder of Rare Voices Australia, which is a national alliance which represents the interests of all Australians living with a rare disease. “Low prevalence does not equal low burden of illness. Rare diseases often begin in childhood, are disabling or life threatening and can be difficult to diagnose. For many of these conditions, there is no effective treatment. Families and carers of children with a rare disease often experience significant psychological distress due to complex medical problems, delayed diagnosis, social isolation, lack of information and difficulty accessing co-­‐
ordinated health care. Rare conditions are referred to as “health orphans” because they are neglected with respect to research,” says Dr Dudding. World Rare Disease Day raises awareness about rare diseases and their impact on patients’ lives. February 28th 2013 marks the 6th World Rare Disease Day with a theme of ‘Solidarity’. Find out more at www.rarevoices.org . Professor John Christodoulou and Dr Tracy Dudding will be speaking about Orphan Diseases at Pathology Update, hosted by the RCPA, at the Melbourne Convention Centre, 22 – 24 February 2013. ENDS About the Royal College of Pathologists of Australasia: The RCPA is the leading organisation representing pathologists in Australasia. Its mission is to train and support pathologists and to improve the use of pathology testing to achieve better healthcare. For more information please visit: http://www.rcpa.edu.au/Publications Media enquiries: Dr Debra Graves or Linsey Brown CEO – RCPA S2i Communications 0417 218 528 0425 514 005 debrag@rcpa.edu.au Linsey@s2i.com.au