O47: Utilization and impact of exome and genome sequencing by non-genetics providers

Genetics in Medicine Open 2026 Open access

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Authors: Michelle M. Morrow, Bobbi McGivern, Erin E. Torti, Olivia L Redlich, Annabelle Tuttle, Kendall King, Patricia Lopes, Melanie Napier, Krystal L. Brown
DOI: 10.1016/j.gimo.2026.104338
Cited by: 0

Abstract

Over the last five years, exome and genome sequencing (ES/GS) have become increasingly integral to medical care. Current research and guidelines recommend ES/GS as a first-tier test for multiple indications, including epilepsies, multiple congenital anomalies, intellectual disability, and global developmental delay. While traditionally ordered by genetics providers, a recent clinical report from the American Academy of Pediatrics (AAP) provided guidance on the use of genetic testing by general pediatricians during the evaluation of certain neurodevelopmental disorders.

Fields of Study & Subjects

Genomics and Rare Diseases Metabolism and Genetic Disorders Prenatal Screening and Diagnostics

Publication details

Journal / source
Genetics in Medicine Open
Volume
4
Pages
104338–104338
Publication date
1 January 2026
Language
EN