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

Siddharth Srivastava^#¹, Jordan J Cole^#², Julie S Cohen^{3

4}, Maya Chopra¹, Hadley Stevens Smith⁵, Matthew A Deardorff⁶, Ernest Pedapati⁷, Brian Corner⁸, Julia S Anixt⁷, Shafali Jeste⁹, Mustafa Sahin¹, Christina A Gurnett¹⁰, Colleen A Campbell¹¹; Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing

Affiliations

¹ Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
² Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA.
³ Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
⁴ Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
⁵ Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA.
⁶ Departments of Pathology and Pediatrics, Keck School of Medicine of USC, Children's Hospital Los Angeles, Los Angeles, CA, USA.
⁷ Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital, Cincinnati, OH, USA.
⁸ Department of Pediatrics and Genetics, Vanderbilt University Medical Center, Nashville, TN, USA.
⁹ Department of Neurology, Keck School of Medicine of USC, Children's Hospital Los Angeles, Los Angeles, CA, USA.
¹⁰ Department of Neurology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
¹¹ Department of Internal Medicine, University of Iowa, Carver College of Medicine, Iowa City, IA, USA.

^# Contributed equally.

PMID: 39319594
PMCID: PMC11496025 (available on 2025-11-01)
DOI: 10.1002/ana.27045

Review

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

Siddharth Srivastava et al. Ann Neurol. 2024 Nov.

. 2024 Nov;96(5):900-913.

doi: 10.1002/ana.27045. Epub 2024 Sep 25.

Authors

Affiliations

¹ Department of Neurology, Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.
² Department of Pediatrics, University of Colorado, Children's Hospital Colorado, Aurora, CO, USA.
³ Department of Neurology and Developmental Medicine, Kennedy Krieger Institute, Baltimore, MD, USA.
⁴ Department of Neurology, Johns Hopkins School of Medicine, Baltimore, MD, USA.
⁵ Department of Population Medicine, Harvard Medical School and Harvard Pilgrim Health Care Institute, Boston, MA, USA.
⁶ Departments of Pathology and Pediatrics, Keck School of Medicine of USC, Children's Hospital Los Angeles, Los Angeles, CA, USA.
⁷ Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati Children's Hospital, Cincinnati, OH, USA.
⁸ Department of Pediatrics and Genetics, Vanderbilt University Medical Center, Nashville, TN, USA.
⁹ Department of Neurology, Keck School of Medicine of USC, Children's Hospital Los Angeles, Los Angeles, CA, USA.
¹⁰ Department of Neurology, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.
¹¹ Department of Internal Medicine, University of Iowa, Carver College of Medicine, Iowa City, IA, USA.

^# Contributed equally.

PMID: 39319594
PMCID: PMC11496025 (available on 2025-11-01)
DOI: 10.1002/ana.27045

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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Conflict of interest statement

Potential Conflicts of Interest

SS is on the Executive Committee of the American Academy of Pediatrics Council of Children with Council on Children with Disabilities (the American Academy of Pediatrics has published practice parameters referenced here). CAC is the President of the National Society of Genetic Counselors (which has published a practice parameter on epilepsy referenced here).

References

1. Accardo P, editor. Capute & Accardo’s Neurodevelopmental Disabilities in Infancy and Childhood [Internet]. 3rd ed. Baltimore: Brookes Publishing; 2008.[cited 2018 Dec 6 ] Available from: https://products.brookespublishing.com/Capute-Accardos-Neurodevelopmenta...
1. Developmental Disabilities Assistance and Bill of Rights Act of 2000. 2000.
1. American Psychiatric Association, American Psychiatric Association, DSM-5 Task Force. Diagnostic and statistical manual of mental disorders: DSM-5. Arlington, Va.: American Psychiatric Association; 2013.
1. Srivastava S, Love-Nichols JA, Dies KA, et al. Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders. Genet. Med. 2019;21(11):2413–2421. - PMC - PubMed
1. Srivastava S, Lewis SA, Cohen JS, et al. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol 2022;79(12):1287–1295. - PMC - PubMed

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

Affiliations

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

Authors

Affiliations

Abstract

Conflict of interest statement

References

Publication types

MeSH terms

Grants and funding

LinkOut - more resources

Full Text Sources

Medical