TY - JOUR
T1 - Rare diseases research and policy in Australia
T2 - on the journey to equitable care
AU - Bhattacharya, Kaustuv
AU - Millis, Nicole
AU - Jaffe, Adam
AU - Zurynski, Yvonne
PY - 2021/6
Y1 - 2021/6
N2 - 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.
AB - 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.
KW - children
KW - equitable access
KW - national policy
KW - rare disease
UR - http://www.scopus.com/inward/record.url?scp=85104519224&partnerID=8YFLogxK
U2 - 10.1111/jpc.15507
DO - 10.1111/jpc.15507
M3 - Article
C2 - 33861492
AN - SCOPUS:85104519224
SN - 1034-4810
VL - 57
SP - 778
EP - 781
JO - Journal of Paediatrics and Child Health
JF - Journal of Paediatrics and Child Health
IS - 6
ER -