Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
Genetic Metabolic Disorders Service, Sydney Children's Hospitals' Network, Sydney, New South Wales, Australia.
J Paediatr Child Health. 2021 Jun;57(6):778-781. doi: 10.1111/jpc.15507. Epub 2021 Apr 16.
Almost exactly 10 years after the publication of 'Call for a national plan for rare diseases' in this journal, the Federal Government launched the National Strategic Action Plan for Rare Diseases (the Action Plan) on the 26th of February 2020, in the lead up to Rare Disease Day on the 29th of February - a rare day for rare diseases. The Action Plan is the culmination of effective advocacy by Rare Voices Australia (RVA) and other stakeholders in the rare disease (RD) sector. RVA is the peak body for Australians living with a RD. The organisation works collaboratively with RD organisations, researchers and clinicians. Since the initial call for a RD plan, a number of health-care initiatives and policy changes have gathered apace including expanded antenatal and newborn screening, the increasing application of next generation sequencing and advances in gene and cell therapeutics. The development of new models of care, diagnostic and treatment pathways, and communities of practice have started to ease the considerable burden and inequitable access to care experienced by RD patients and their families. However, much work remains to be done. The Action Plan outlines the actions to bring about the best possible health and well-being outcomes for Australians living with RD. It is centred around three pillars - awareness and education, care and support, research and data - and will be delivered against the principles of person centredness, equity, and sustainable systems and workforce.
在本期刊发表“呼吁制定国家罕见病计划”近 10 年后，联邦政府于 2020 年 2 月 26 日在罕见病日（2 月 29 日）前夕推出了《国家罕见病战略行动计划》（行动计划）。该行动计划是罕见病之声澳大利亚（RVA）和其他罕见病（RD）领域利益相关者有效倡导的结果。RVA 是澳大利亚 RD 患者的最高机构。该组织与 RD 组织、研究人员和临床医生合作。自最初呼吁制定 RD 计划以来，许多医疗保健举措和政策变化迅速跟进，包括扩大产前和新生儿筛查、越来越多地应用下一代测序以及基因和细胞治疗的进步。新的护理模式、诊断和治疗途径以及实践社区的发展已经开始缓解 RD 患者及其家人所经历的巨大负担和不公平的护理机会。然而，仍有许多工作要做。该行动计划概述了为澳大利亚 RD 患者带来最佳健康和福祉结果的行动。它围绕三个支柱展开——意识和教育、护理和支持、研究和数据——并将在以人为本、公平和可持续系统和劳动力的原则下实施。
