Innovative solutions to support mothers and fathers after genomic sequencing

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Authors: Erin Turbitt, Elizabeth Callinan
Cited by: 0
References: 4

Abstract

Genomic sequencing is transforming paediatric care, from pilot and research studies exploring integration into prenatal and newborn screening through to routine clinical practice to diagnose neurodevelopmental conditions. This rapid expansion means more parents than ever are receiving complex genomic information about their child, often early in the illness trajectory when uncertainty and stress are high. The ability to target treatment based on genomic information can offer significant clinical benefits. The same genomic information has the potential to profoundly redefine family expectations about the future. When framed as “bad news” or deficit-focused, as frequently occurs in medical settings, these results can increase the significant emotional load already being managed by parents.

Fields of Study & Subjects

Genomics and Rare Diseases Ethics and Legal Issues in Pediatric Healthcare Patient-Provider Communication in Healthcare

Publication details

Journal / source
European Journal of Human Genetics
Volume
34
Issue
2
Pages
167–168
Publication date
13 January 2026
Language
EN