P281: Project FIND-OUT: Caregiver utility assessments demonstrate the value of genetic testing to families

Genetics in Medicine Open 2026 Open access

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Authors: Katie Schmidt, Elizabeth Rountree, Corinne Hunnicutt, Lauren Gale, Deborah Ondrasik, Natasha N. Ludwig, Rachel Landsman, Jennifer Harmon, Sho T. Yano, Seth I. Berger, Terry Jo Bichell
DOI: 10.1016/j.gimo.2026.103775
Cited by: 0

Abstract

The clinical utility of genomic findings is well studied, with genome sequencing (GS) providing targeted pathways for intervention and directed specialty care. However, there is a paucity of data on the utility of GS for families who live with a symptomatic infant suspected of having a rare genetic neurodevelopmental disorder (RGND). Kohler and colleagues showed that the personal utility of genomic data cannot be understated, as caregivers often cite outcomes such as increased coping and informed decision-making as clear indications that genetic testing had a positive impact on the individual’s care and well-being, as well as their own.

Fields of Study & Subjects

Genomics and Rare Diseases Ethics and Legal Issues in Pediatric Healthcare Family and Disability Support Research

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
103775–103775
Publication date
1 January 2026
Language
EN