Key outcomes from stakeholder workshops at a symposium to inform the development of an Australian national plan for rare diseases

Orphanet Journal of Rare Diseases

Hugh Dawkins¹  Emma Hammond²  Leanne Youngs²  Caron Molster² 

[1] School of Pathology & Laboratory Medicine, University of Western Australia, Perth, Western Australia, Australia;Office of Population Health Genomics, Department of Health, PO Box 8172, Stirling Street, Perth, 6849, Western Australia, Australia

关键词: Stakeholder consultation;    Rare diseases;    National plan;   

Others  :  864287
DOI  :  10.1186/1750-1172-7-50

 received in 2012-04-05, accepted in 2012-08-02,  发布年份 2012

【 摘 要 】

Background

Calls have been made for governments to adopt a cohesive approach to rare diseases through the development of national plans. At present, Australia does not have a national plan for rare diseases. To progress such a plan an inaugural Australian Rare Diseases Symposium was held in Western Australia in April 2011. This paper describes the key issues identified by symposium attendees for the development of a national plan, compares these to the content of EUROPLAN and national plans elsewhere and discusses how the outcomes might be integrated for national planning.

Methods

The symposium was comprised of a series of plenary sessions followed by workshops. The topics covered were; 1) Development of national plans for rare diseases; 2) Patient empowerment; 3) Patient care, support and management; 4) Research and translation; 5) Networks, partnerships and collaboration. All stakeholders within the rare diseases community were invited to participate, including: people affected by rare diseases such as patients, carers, and families; clinicians and allied health practitioners; social and disability services; researchers; patient support groups; industry (e.g. pharmaceutical, biotechnology and medical device companies); regulators and policy-makers.

Results

All of these stakeholder groups were represented at the symposium. Workshop participants indicated the need for a national plan, a national peak body, a standard definition of ‘rare diseases’, education campaigns, lobbying of government, research infrastructure, streamlined whole-of-lifetime service provision, case co-ordination, early diagnosis, support for health professionals and dedicated funding.

Conclusions

These findings are consistent with frameworks and initiatives being undertaken internationally (such as EUROPLAN), and with national plans in other countries. This implies that the development of an Australian national plan could plausibly draw on frameworks for plan development that have been proposed for use in other jurisdictions. The translation of the symposium outcomes to government policy (i.e. a national plan) requires the consideration of several factors such as the under-representation of some stakeholder groups (e.g. clinicians) and the current lack of evidence required to translate some of the symposium outcomes to policy options. The acquisition of evidence provides a necessary first step in a comprehensive planning approach.

【 授权许可】

   
2012 Molster et al.; licensee BioMed Central Ltd.

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