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.

Children's rights and wrongs: respect, equality and dignity.

Despite the almost global ratification of the United Nations Convention on the Rights of the Child, Ireland and the international community fall short on the full realisation of these standards. Among the many pervasive and enduring failures are the persistence of child poverty, inadequate access to healthcare services, inequality of access to education, and continued discrimination based on race, ethnicity, gender, and disability. A highly relevant concern in today's world is the increasing exposure of children to armed conflict and our inability to effect change.

Analysis of public perceptions on the use of artificial intelligence in genomic medicine.

Purpose: Next generation sequencing has led to the creation of large pools of genomic data with analysis rather than data generation now the limiting factor. Artificial intelligence (AI) may be required to optimize the benefits of these data, but little is known about how the public feels about the use of AI in genomics.

Methods: We conducted focus groups with members of the Australian public.

Importance of variables from different time frames for predicting self-harm using health system data.

Objective: Self-harm risk prediction models developed using health system data (electronic health records and insurance claims information) often use patient information from up to several years prior to the index visit when the prediction is made. Measurements from some time periods may not be available for all patients. Using the framework of algorithm-agnostic variable importance, we study the predictive potential of variables corresponding to different time horizons prior to the index visit and demonstrate the application of variable importance techniques in the biomedical informatics setting.

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.