Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders

Overview

Journal Ann Neurol

Specialty Neurology

Date 2024 Sep 25

PMID 39319594

Authors

Siddharth Srivastava

Jordan J Cole

Julie S Cohen

Maya Chopra

Hadley Stevens Smith

Matthew A Deardorff

Ernest Pedapati

Brian Corner

Julia S Anixt

Shafali Jeste

Mustafa Sahin

Christina A Gurnett

Colleen A Campbell

Affiliations

Soon will be listed here.

Abstract

Genetic testing of patients with neurodevelopmental disabilities (NDDs) is critical for diagnosis, medical management, and access to precision therapies. Because genetic testing approaches evolve rapidly, professional society practice guidelines serve an essential role in guiding clinical care; however, several challenges exist regarding the creation and equitable implementation of these guidelines. In this scoping review, we assessed the current state of United States professional societies' guidelines pertaining to genetic testing for unexplained global developmental delay, intellectual disability, autism spectrum disorder, and cerebral palsy. We describe several identified shortcomings and argue the need for a unified, frequently updated, and easily-accessible cross-specialty society guideline. ANN NEUROL 2024;96:900-913.

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