Rapid genomic testing in critically ill neonatal and paediatric patients has transformed the
paradigm of rare disease diagnosis, delivering results in real time to inform patient …

Importance Genomic medicine holds promise to revolutionize care for critically ill infants by
tailoring treatments for patients and providing additional prognostic information to families …

In 1974, Dr. Balfour Mount introduced the term “palliative” from the Latin word palliare—“to
wrap in comfort”—as a description of an approach that supports patients by focusing on …

Purpose To explore parental experiences of ultrarapid genomic testing for their critically
unwell infants and children. Methods Parents of critically unwell children who participated in …

Australian Genomics is a national collaborative research partnership of more than 80
organizations piloting a whole-of-system approach to integrating genomics into healthcare …

Rapid genomic sequencing (RGS) is increasingly being used in the care of critically ill
children. Here we describe a qualitative study exploring parent and professional …

Importance Infants with hypotonia can present with a variety of potentially severe clinical
signs and symptoms and often require invasive testing and multiple procedures. The wide …

Video Abstract BACKGROUND AND OBJECTIVES Genetic testing is expanding among ill
neonates, yet the influence of genetic results on medical decision-making is not clear. With …

Trust relations in the health services have changed from asymmetrical paternalism to
symmetrical autonomy-based participation, according to a common account. The promises …

Genomic sequencing technologies (GS) pose novel challenges not seen in older genetic
technologies, making traditional standards for fully informed consent difficult or impossible to …