Volume 187 - Issue 10
International conferences on rare diseases: initiatives in commitment, patient care and connections
Authors: Yvonne A Zurynski, Katie N Reeve and Elizabeth J Elliott
Med J Aust 2007; 187 (10): 597. || doi: 10.5694/j.1326-5377.2007.tb01433.x
Published online: 19 November 2007
Published online: 19 November 2007
To the Editor: The recent conference report by Knight and Taruscio highlights the need for a coordinated effort to fill knowledge gaps and improve service provision for Australians with rare diseases.1 Although, by definition, individual rare diseases occur infrequently, there are about 6000 rare diseases affecting 6%–10% of the population.2,3 This equates to 1.2 million Australians, 30 million people in Europe and 25 million in the United States. By comparison, diabetes affects 1.4 million Australians.4
It is increasingly acknowledged that low prevalence does not equate to low impact. Rare diseases often have their onset in childhood, continue throughout life, are difficult to diagnose, are disabling, and have significant impact on patients, their families, the community and health services.2,5 However, rare diseases receive such scant attention that they have been dubbed “orphan” diseases. Lack of epidemiological and scientific data has hindered development of evidence-based practice, policy and services.
To tackle the problem of rare diseases, the European Union, the US, Canada and New Zealand have established policies and agencies to foster research, and develop resources for clinicians, community information services, and appropriate health facilities. The National Institutes of Health in the US established the Office of Rare Diseases because:
. . . rare disease research requires the collaboration of scientists from multiple disciplines and the capacity to share access to geographically distributed national research resources and patient populations . . . knowledge about rare diseases may offer leads for scientific advancement in other rare diseases and in more common diseases.6
There is no coordinated national effort or policy in Australia.
Currently, there are 14 national paediatric surveillance units, including the Australian Paediatric Surveillance Unit (APSU), to which paediatricians contribute epi-demiological, clinical and outcome data on rare conditions of childhood.7 These data inform development of health policy and improved diagnosis and clinical management, and result in the establishment of cohorts, thereby enabling further research.7 The APSU is developing information resources for clinicians and the community on rare infections, genetic disorders, mental health conditions and injuries in children. In Australia, the APSU is the only provider of prospective national data on up to 16 rare childhood diseases concurrently, but it receives no ongoing core funding.
Sound evidence is needed to underpin development of policy and services. Sound evidence requires sound research into the causes, management and effects of rare diseases. Australian clinicians, researchers and, most importantly, patients and their families deserve the benefits of a coordinated national plan to address the common burden of rare diseases.
References
- Knight AW, Taruscio D. International conferences on rare diseases: initiatives in commitment, patient care and connections. Med J Aust 2007; 187: 74-76.
- US Department of Health and Human Services. National Institutes of Health Office of Rare Diseases [website]. http://rarediseases.info.nih.gov/ (accessed Aug 2007).
- European Organisation for Rare Diseases. Rare diseases: understanding this public health priority. Nov 2005. http://www.eurordis.org/IMG/pdf/princeps_document-EN.pdf (accessed Aug 2007).
- Dunstan DW, Zimmet PZ, Welborn TA, et al. The rising prevalence of diabetes and impaired glucose tolerance: the Australian Diabetes, Obesity and Lifestyle Study. Diabetes Care 2002; 25: 829-834. 0_i1091842
- Dunkelberg S. A patient’s journey: our special girl. BMJ 2006; 333: 430-431. 0_i1091844
- US Department of Health and Human Services. National Institutes of Health. NIH news. National Centre for Research Resources. NIH establishes rare diseases clinical research network. http://www.nih.gov/news/pr/nov2003/ncrr-03.htm (accessed Oct 2007).
- Grenier D, Elliott EJ, Zurynski Y, et al. Beyond counting cases: public health impacts of national paediatric surveillance units. Arch Dis Child 2007; 92: 527-533. 0_i1091849