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 …

Advances in technologies for assessing genomic variation and an increasing understanding
of the effects of genomic variants on health and disease are driving the transition of …

Importance Optimal use of whole-exome sequencing (WES) in the pediatric setting requires
an understanding of who should be considered for testing and when it should be performed …

Genetic disorders are a leading cause of morbidity and mortality in infants in neonatal and
pediatric intensive care units (NICU/PICU). While genomic sequencing is useful for genetic …

The Clinical Sequencing Evidence-Generating Research (CSER) consortium, now in its
second funding cycle, is investigating the effectiveness of integrating genomic (exome or …

Genomic sequencing is rapidly transitioning into clinical practice, and implementation into
healthcare systems has been supported by substantial government investment, totaling over …

Purpose To systematically investigate the longer-term clinical and health economic impacts
of genomic sequencing for rare-disease diagnoses. Methods We collected information on …

Purpose The purpose of the study was to implement and prospectively evaluate the
outcomes of a rapid genomic diagnosis program at two pediatric tertiary centers. Methods …

As test costs decline, whole-exome sequencing (WES) has become increasingly used for
clinical diagnosis, and now represents the primary alternative to gene panel testing for …

Purpose Large-scale genetics education appropriate for general practice providers is a
growing priority. We describe the content and impact of a mandatory system-wide program …