Exome and genome sequencing Professional Society Guidance AAP · 2025 Genetic Evaluation of the Child With Intellectual Disability ACMG · 2021 Clinical practice guideline (PubMed 34211152) Title TBD NSGC (endorsed by AES) · 2022 Practice resource (PubMed 36281494) Title TBD Clinical Utility — Improving Patient Outcomes Systematic evidence reviews and meta-analyses Genetics in Medicine · 2023 Systematic review (S1098-3600 / 2023) Title TBD Genetics in Medicine · 2025 Meta-analysis (S1098-3600(25)00045-0) Title TBD Genetics in Medicine · 2021 Evidence review (S1098-3600(21)00841-8) Title TBD Health Economics Cost-effectiveness analyses Genetics in Medicine · 2021 Cost-effectiveness analysis (S1098-3600(21)01129-1) Title TBD Genetics in Medicine · 2022 Cost-effectiveness analysis (S1098-3600(22)00682-7) Title TBD Real-world evidence GIM Open · 2026 Real-world evidence study (S2949-7744(26)00473-5) Title TBD Diagnostic Yield Systematic evidence reviews and meta-analyses Genetics in Medicine · 2023 Systematic review (S1098360023009097) Title TBD Genetics in Medicine · 2025 Meta-analysis (S1098-3600(25)00045-0) Title TBD npj Genomic Medicine · 2018 Diagnostic yield study Title TBD Ontario Health Genome Sequencing for Developmental Disabilities (HTA) Sample Payer Medical Coverage Policies PLUGS Patient-centered Laboratory Utilization Guidance — Insurance Alignment
