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

Details

• Alternative Title:
  Ann Neurol
• Personal Author:
  Srivastava, Siddharth ; Cole, Jordan J. ; Cohen, Julie S. ; Chopra, Maya ; Smith, Hadley Stevens ; Deardorff, Matthew A. ; Pedapati, Ernest ; Corner, Brian ; Anixt, Julia S. ; Jeste, Shafali ; Sahin, Mustafa ; Gurnett, Christina A. ; Campbell, Colleen A.
• Description:
  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.
• Subjects:
  Genetic Testing Humans Neurodevelopmental Disorders Practice Guidelines As Topic Societies, Medical Surveys And Questionnaires United States
• Source:
  Ann Neurol. 96(5):900-913
• Pubmed ID:
  39319594
• Pubmed Central ID:
  PMC11496025
• Document Type:
  Journal Article
• Funding:
  U01-CE003570/CC/CDC HHSUnited States/ ; HRSA-22-134/HRSA/HRSA HHSUnited States/ ; P50 HD105351/HD/NICHD NIH HHSUnited States/ ; R21 HG012626/HG/NHGRI NIH HHSUnited States/ ; P50 HD103538/HD/NICHD NIH HHSUnited States/ ; 1K23NS119666/NS/NINDS NIH HHSUnited States/ ; P50 HD103537/HD/NICHD NIH HHSUnited States/ ; R01 AR067715/AR/NIAMS NIH HHSUnited States/ ; U01 DA055342/DA/NIDA NIH HHSUnited States/ ; R21 HD101977/HD/NICHD NIH HHSUnited States/ ; R01 NS117597/NS/NINDS NIH HHSUnited States/ ; U01-DA055342/MH/NIMH NIH HHSUnited States/ ; P50HD105351/National Institute of Child Health and Human Development/ ; U54-HD104461/National Institute of Child Health and Human Development/ ; U54 NS092090/NS/NINDS NIH HHSUnited States/ ; R21HG012626/HG/NHGRI NIH HHSUnited States/ ; 1U24NS131172-01/NS/NINDS NIH HHSUnited States/ ; R01-HD108222/MH/NIMH NIH HHSUnited States/ ; U01 CE003570/CE/NCIPC CDC HHSUnited States/ ; U24 NS131172/NS/NINDS NIH HHSUnited States/ ; K23 NS119666/NS/NINDS NIH HHSUnited States/ ; U54NS092090/TR/NCATS NIH HHSUnited States/ ; U54 HD104461/HD/NICHD NIH HHSUnited States/ ; K12 NS098482/NS/NINDS NIH HHSUnited States/ ; R00 HG011491/HG/NHGRI NIH HHSUnited States/ ; R21HD101977/Eunice Kennedy Shriver National Institute of Child Health and Human Development/ ; R01 HD108222/HD/NICHD NIH HHSUnited States/ ; UL1 TR000448/TR/NCATS NIH HHSUnited States/ ; R00HG011491/HG/NHGRI NIH HHSUnited States/ ; P50 HD103556/HD/NICHD NIH HHSUnited States/ ; P50 HD103525/HD/NICHD NIH HHSUnited States/ ; R01-NS117597/NS/NINDS NIH HHSUnited States/
• Volume:
  96
• Issue:
  5
• Collection(s):
  CDC Public Access
• Main Document Checksum:
  urn:sha-512:7ab8592125d78e0801876a160b6166e82410cfdd567c2df05fe23ad17b20b66dc76900ddc15a2e12094d02da2ba5f3380c7fa3454691edb60fac665e804a31b3
• Download URL:
  https://stacks.cdc.gov/view/cdc/166937/cdc_166937_DS1.pdf
• File Type:
  [PDF - 719.82 KB ]