The GUARD Collaborative represents over 100 support groups and support organisations for people with genetic and rare conditions across Australia and endeavours to reflect their collective view.
Rare diseases are recognised as a public health (i) priority and a global health issue (ii) because of their impact on the individual and the health system. Rare disease registries are fundamental to supporting collaborative research that will improve outcomes for people with genetic and rare conditions by increasing knowledge and supporting health (iii).
GUARD and its members recognise the fundamental importance of registries for translational research and clinical care to improve outcomes for rare disease patients. To have the greatest positive impact for people living with rare diseases, we consider that these registries should seek opportunities for national and international collaboration (iv) and promote rare disease as a collective group of conditions (similar to the approach taken with chronic disease management). In addition, they should be established within a clinical quality registry framework (v,vi,vii) The creation of centres of excellence should be a consideration in the development of registries to ensure the best possible outcome for people with genetic and rare conditions. Patient advocacy and support organisations should be primary stakeholders in establishing, maintaining, utilising and translating the benefits resulting from these registries.
It is acknowledged that many Australian rare disease registries already exist and have been, in many instances, highly successful in supporting research and product development that has improved the lives of their members. We recognise existing registries may need time to meet the requirements of any new framework and should not be adversely impacted by the implementation of such a framework.
A rare disease registry should have patient outcomes and involvement as the central and underpinning themes(viii,ix). To facilitate this, patient support organisations should be actively engaged in the development and governance of registries. In order to provide ongoing psycho-social support, efforts should be made to ensure patients are referred for support and information to the associated support organisation or an umbrella organisation.
A rare disease registry framework in Australia should facilitate:
- Improved patient outcomes, including via diagnosis, pharmaceutical development and treatments and other changes in clinical practice and the accessible dissemination of information about these changes.
- The establishment and maintenance of a communication network that includes treatment centres and/or experts, education and other health and disability professionals.
- The assessment of resource allocation/requirements to address highest priorities in achieving successful outcomes.
- Wherever possible data should link with hospital presentations and other service utilisation information to assess the burden of disease and related outcomes.
- Interoperability with international initiatives.
- Information being available to other services such as education and disability to ensure the full impact of genetic and rare disease is covered.
Australian rare disease registries should:
- Be informed by a rare disease framework and this should be developed based on the principles outlined by EURORDIS and follow the criteria to be recognised as an Australian clinical quality registry to reduce incomplete data and ensure that replicable patient outcome data is captured.
- Ensure that consent is collected in compliance with relevant jurisdictional guidelines and is underpinned by patient rights.
- Make use of existing information communication and technology capability and architecture(x).
- Collaborate with appropriate support organisations and relevant services to make best use of data linkage capabilities to utilise related data sets.
- Research should, wherever possible and reasonable, utilise or build on existing rare disease registries to limit duplication.
- Rare disease registries require infrastructure and funding for sustainability and should therefore be located where this can best be provided.
vi http://www.med.monash.edu.au/sphpm/depts-centres-units/registries/index.html http://www.med.monash.edu.au/sphpm/depts-centres-units/registries/index.html