Rapid genomic testing in critically ill pediatric patients: Genetic counseling lessons from a national program.

Genetic counselors (GCs) face unique challenges in the acute care setting. Acute care environments-such as neonatal and pediatric intensive care units-are characterized by urgency, complexity, and rapid decision making. These settings require GCs to navigate a delicate balance between addressing the immediate clinical needs of patients and providing comprehensive genetic information to families, while demanding adaptation of existing skills for practice.

Offering complex genomic screening in acute pediatric settings: Family decision-making and outcomes.

Purpose: Families of children in pediatric acute care who are offered ultrarapid genomic sequencing are making complex decisions during a high-stress period. To reduce complexity for families and clinicians, we offered genomic screening for the child and parents after the completion of diagnostic testing. We evaluated uptake, understanding, and service delivery preferences.

Critically unwell infants and children with mitochondrial disorders diagnosed by ultrarapid genomic sequencing.

Purpose: To characterize the diagnostic and clinical outcomes of a cohort of critically ill infants and children with suspected mitochondrial disorders (MD) undergoing ultrarapid genomic testing as part of a national program.

Methods: Ultrarapid genomic sequencing was performed in 454 families (genome sequencing: n = 290, exome sequencing +/- mitochondrial DNA sequencing: n = 164). In 91 individuals, MD was considered, prompting analysis using an MD virtual gene panel.

The system of radiological protection and the UN sustainable development goals.

In 2015 the United Nations issued 17 Sustainable Development Goals (SDGs) addressing a wide range of global social, economic, and environmental challenges. The main goal of this paper is to provide an understanding of how the current System of Radiological Protection relates to these SDGs. In the first part it is proposed that the current System of Radiological Protection is implicitly linked to sustainable development.