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. ### Competing Interest Statement SS has received consulting fees from GLG, Guidepoint (which is connected to a client, Fortress Biotech), Novartis, ExpertConnect, Orchard Therapeutics, Neuren. SS is on the Executive Committee of the American Academy of Pediatrics Council of Children with Council on Children with Disabilities. JJC has received honoraria from the American Academy of Neurology and the Gatlinburg Conference. JSC is the principal investigator of an institutional research contract with Illumina; she has received consulting fees from Illumina and honoraria from PTC Therapeutics. MAD serves as an advisor to Rarebase, CAC is the President of the National Society of Genetic Counselors. MS reports grant support from Biogen, Astellas, Bridgebio, and Aucta; he has served on Scientific Advisory Boards for Roche, SpringWorks Therapeutics, Jaguar Therapeutics and Alkermes. ### Funding Statement We would like to acknowledge Dr. Tracy King at NICHD for her facilitation of the IDDRC Workgroup on Advocating for Access to Genomic Testing. This study was made possible by the following IDDRC grants: P50HD105351 (Boston Children's Hospital), P50HD103538 (Kennedy Krieger Institute), P50HD103556 (University of Iowa), P50HD103537 (Vanderbilt University), and P50HD103525 (Washington University in St. Louis). SS receives support from the National Institute of Health/National Institute of Neurological Disorders and Stroke (NIH/NINDS) (1K23NS119666). JJC receives research support from the NIH/NINDS (5K12NS098482). JSC receives funding from the National Institute of Child Health and Human Development (NICHD) (P50 HD103538), NINDS (1U24NS131172-01), and U.S. Department of Health and Human Services, Health Resources and Services Administration (HRSA) (MCH T7317245). MAD receives funding from the NICHD (R21HD101977), National Human Genome Research Institute (NHGRI) (R21HG012626) and HRSA (HRSA-22-134). HSS receives funding from the NHGRI (R00HG011491). EP receives support from the Cincinnati Children's Hospital Medical Center Research Foundation, NIH National Institute of Mental Health (NIMH) (R01-HD108222, U01-DA055342), Center for Disease Prevention (CDC) (U01-CE003570), NICHD (U54-HD104461), and NIH/NINDS (R01-NS117597). JSA receives funding from Autism Speaks (Autism Care Network). MS receives funding from the NIH (P50HD105351, U54NS092090). CAG receives support from the National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS) (R01AR067715), NICHD (P50HD103525), and National Center for Advancing Translational Sciences (NCATS) (UL1TR000448). No funding organization had a role in the study design, implementation, or analysis. ### Author Declarations I confirm all relevant ethical guidelines have been followed, and any necessary IRB and/or ethics committee approvals have been obtained. Yes I confirm that all necessary patient/participant consent has been obtained and the appropriate institutional forms have been archived, and that any patient/participant/sample identifiers included were not known to anyone (e.g., hospital staff, patients or participants themselves) outside the research group so cannot be used to identify individuals. Yes I understand that all clinical trials and any other prospective interventional studies must be registered with an ICMJE-approved registry, such as ClinicalTrials.gov. I confirm that any such study reported in the manuscript has been registered and the trial registration ID is provided (note: if posting a prospective study registered retrospectively, please provide a statement in the trial ID field explaining why the study was not registered in advance). Yes I have followed all appropriate research reporting guidelines, such as any relevant EQUATOR Network research reporting checklist(s) and other pertinent material, if applicable. Yes Data from this scoping review is available upon request from the corresponding author.