Siddharth Srivastava MD, Jordan J. Cole MD, Julie S. Cohen ScM, Maya Chopra MBBS, FRACP, Hadley Stevens Smith PhD, MPSA, Matthew A. Deardorff MD, PhD, Ernest Pedapati MD, MS, FAAP, Brian Corner MS, Julia S. Anixt MD, Shafali Jeste MD, Mustafa Sahin MD, PhD, Christina A. Gurnett MD, PhD, Colleen A. Campbell PhD, MS, the Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing
{"title":"神经发育障碍基因检测社会实践指南现状调查。","authors":"Siddharth Srivastava MD, Jordan J. Cole MD, Julie S. Cohen ScM, Maya Chopra MBBS, FRACP, Hadley Stevens Smith PhD, MPSA, Matthew A. Deardorff MD, PhD, Ernest Pedapati MD, MS, FAAP, Brian Corner MS, Julia S. Anixt MD, Shafali Jeste MD, Mustafa Sahin MD, PhD, Christina A. Gurnett MD, PhD, Colleen A. Campbell PhD, MS, the Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing","doi":"10.1002/ana.27045","DOIUrl":null,"url":null,"abstract":"<p>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</p>","PeriodicalId":127,"journal":{"name":"Annals of Neurology","volume":"96 5","pages":"900-913"},"PeriodicalIF":8.1000,"publicationDate":"2024-09-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11496025/pdf/","citationCount":"0","resultStr":"{\"title\":\"Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders\",\"authors\":\"Siddharth Srivastava MD, Jordan J. Cole MD, Julie S. Cohen ScM, Maya Chopra MBBS, FRACP, Hadley Stevens Smith PhD, MPSA, Matthew A. Deardorff MD, PhD, Ernest Pedapati MD, MS, FAAP, Brian Corner MS, Julia S. Anixt MD, Shafali Jeste MD, Mustafa Sahin MD, PhD, Christina A. Gurnett MD, PhD, Colleen A. Campbell PhD, MS, the Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing\",\"doi\":\"10.1002/ana.27045\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p>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</p>\",\"PeriodicalId\":127,\"journal\":{\"name\":\"Annals of Neurology\",\"volume\":\"96 5\",\"pages\":\"900-913\"},\"PeriodicalIF\":8.1000,\"publicationDate\":\"2024-09-25\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11496025/pdf/\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Annals of Neurology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://onlinelibrary.wiley.com/doi/10.1002/ana.27045\",\"RegionNum\":1,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q1\",\"JCRName\":\"CLINICAL NEUROLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Annals of Neurology","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1002/ana.27045","RegionNum":1,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q1","JCRName":"CLINICAL NEUROLOGY","Score":null,"Total":0}
Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders
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
期刊介绍：
Annals of Neurology publishes original articles with potential for high impact in understanding the pathogenesis, clinical and laboratory features, diagnosis, treatment, outcomes and science underlying diseases of the human nervous system. Articles should ideally be of broad interest to the academic neurological community rather than solely to subspecialists in a particular field. Studies involving experimental model system, including those in cell and organ cultures and animals, of direct translational relevance to the understanding of neurological disease are also encouraged.
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