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Evaluation of Developmental Delay

The rapidly advancing understanding of genetic causes of developmental disorders, the proliferation of approaches to genetic testing and their evolving availability and coverage by third-party payers and their decreasing costs are dramatically changing the evaluation of children identified with develpmental delays. However, clinical expertise in such testing and its interpretation is concentrated in relatively few individuals – clinical geneticists and their teams (including genetic counselors) – who were already too busy before this revolution began. Wait times for new patients to be seen in many centers range from 6-18 months. Initiating testing and intervention by primary care clinicians offers potential value to patients and families, and may reduce wait times for genetic services by streamlining what is often a complex evaluation.
The Mountain States Regional Genetics Network (MSRGN) organized development of an algorithm to guide primary care clinicians in evaluating young children with developmental delay with genetic and other testing. See Developmental Delay Algorithm & Resources (MSRGN) for the algorithm and a number of related resources, including information about informed consent, patient education materials, and webinars.
The MSGRN's Utah workgroup is working with a couple general pediatric practices to pilot the algorithm, adapted to local resources. The Workgroup prepared a graphic depiction of the algorithm (Utah Developmental Delay Algorithm (2019) (PDF Document 146 KB) and developed a package of supporting material (Developmental Delay Evaluation Resources (MSRGN/Utah) (PDF Document 5.6 MB) that includes:
  • Primary Care Reference Materials
    • Graphic algorithm
    • Testing Labs & Insurance Coverage
    • Medicaid Prior Authorization Form
    • Results Examples
      • Normal SNP
      • Normal fragile X
      • Abnormal - email or call Genetics
  • Developmental Delay Information
    • Treatable-ID.org (source of information about treatable conditions causing developmental delay)
    • Diagnosis of Pediatric Developmental Delay
    • Non-Genetic Causes of Developmental Delay
    • Approach to Genetic Diagnosis in Developmental Delay
  • Informed Consent & The Law
    • General Genetic Consent Form
    • Elements of Consent for Genetic Testing:CMA
    • Laws Pertaining to Genetic Information
  • Educational Materials for Patient & Family
    • Genes: What They Are and What They Do
    • Variants of Uncertain Significance (English)
    • Variants of Uncertain Significance (Spanish)
    • Description of Genetic Services (English)
    • Description of Genetic Services (Spanish)
This pilot project is not part of a formal research study and incorporates testing approaches that are widely available and used in clinical settings, most often in genetics clinics.

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Compiler: Information compiled by Medical Home Portal authors and staff
Content Last Updated: 9/2019