Consumer-oriented (patient and family) outcomes from nursing in genomics: a scoping review of the literature (2012-2022).

Introduction: Genomics is a lifespan competency that is important for improving health outcomes for individuals, families, and communities. Nurses play a key role in genomic healthcare and realizing the potential of the genomic era.

Methods: We aimed to chart the current state of genomics in nursing by conducting a systematic scoping review of the literature in four databases (2012-2022).

Current State of Genomics in Nursing: A Scoping Review of Healthcare Provider Oriented (Clinical and Educational) Outcomes (2012-2022).

In the 20 years since the initial sequencing of the human genome, genomics has become increasingly relevant to nursing. We sought to chart the current state of genomics in nursing by conducting a systematic scoping review of the literature in four databases (2012-2022). The included articles were categorized according to the Cochrane Collaboration outcome domains/sub-domains, and thematic analysis was employed to identify key topical areas to summarize the state of the science.

"Walking in Their Shoes": The effects of an immersive digital story intervention on empathy in nursing students.

Aim: To evaluate the effects of a novel, immersive digital story intervention on empathy.

Design: A randomized trial with three phases.

Results: A total of 238 2nd year nursing students were recruited between May 2018 and December 2019.

The first competency based framework in genetics/genomics specifically for midwifery education and practice.

This paper details a competency framework to help address the need for structured guidance around genetic and genomic education and training for midwives. A one-day expert panel consensus meeting was convened to review and revise a previously published joint framework for nurses, midwives and health visitors. Fifteen midwives from practice, management, education and policy and three genetic counsellors (two with midwifery backgrounds) attended.

A giant novel gene undergoing extensive alternative splicing is severed by a Cornelia de Lange-associated translocation breakpoint at 3q26.3.

Cornelia de Lange syndrome (CdLS) is a rare developmental malformation syndrome characterised by mental handicap, growth retardation, distinctive facial features and limb reduction defects. The vast majority of CdLS cases are sporadic. We carried out a high density bacterial artificial chromosome (BAC) microarray comparative genome hybridisation screen but no evidence was found for a consistent pattern of microdeletion/microduplication.

NIPBL, encoding a homolog of fungal Scc2-type sister chromatid cohesion proteins and fly Nipped-B, is mutated in Cornelia de Lange syndrome.

Cornelia de Lange syndrome (CdLS) is a multiple malformation disorder characterized by dysmorphic facial features, mental retardation, growth delay and limb reduction defects. We indentified and characterized a new gene, NIPBL, that is mutated in individuals with CdLS and determined its structure and the structures of mouse, rat and zebrafish homologs. We named its protein product delangin.