Importance Genomic newborn screening (gNBS) may optimize the health and well-being of
children and families. Screening programs are required to be evidence based, acceptable …

Australian Genomics is a national collaborative partnership of more than 100 organizations
piloting a whole-of-system approach to integrating genomics into healthcare, based on …

The challenges imposed by climate change and the limited nature of resources generate
paradigm shifts at the level of economic, social, and environmental policies and strategies …

Background Carers of people living with rare diseases report heavy burden and a plethora
of unmet needs. A previous parental supportive care needs framework has described the …

Dravet syndrome (DS) is a developmental and epileptic encephalopathy with evolving
disease course as individuals age. In recent years, the treatment landscape of DS has …

Background Childhood dementias are a group of rare and ultra-rare paediatric conditions
clinically characterised by enduring global decline in central nervous system function …

Background Omission of family and caregiver health spillovers from the economic
evaluation of healthcare interventions remains common practice. When reported, a high …

An important issue in economic evaluations is determining whether all relevant impacts are
considered, given the perspective chosen for the analysis. Acknowledging that patients are …

Background A child's health condition affects family members' health and well-being.
However, pediatric cost-utility analysis (CUA) commonly ignores these family spillover …

Background Genomic testing transforms the diagnosis and management of rare conditions.
However, uncertainty exists on how to best measure genomic outcomes for informing …