Intellectual Disability Clinical Trial
Official title:
Establishing the Clinical Utility of First StepDx PLUS and NextStepDx PLUS Study
The study uses a randomized controlled study design of pediatric neurologists and developmental pediatricians and front-line (primary care) pediatricians to determine if use of FirstStepDx PLUS and Next StepDx PLUS are associated with higher clinical quality, less variability in clinical practice, and lower costs from decreased resource utilization. The Clinical Performance and Value Vignettes (CPV) used in this study simulate a clinical encounter for individuals with an atypical phenotype and clinical presentation indicative of a possible genetic disorder. We will measure the difference in combined diagnostic and treatment CPV® domain score post-intervention versus baseline comparing intervention and control groups
The study is an interventional longitudinal study design of physician practice. 225
specialist and general pediatricians without previous exposure to FirstStepDx PLUS or
NextStepDx PLUS will be selected from a nationally representative list of approximately
25,000 board-certified pediatricians and 5,000 specialists. These physicians will be
randomized into one of three arms: to receive information regarding FirstStepDx PLUS
("Intervention A"), to receive information about FirstStepDx PLUS and NextStepDx PLUS
("Intervention B") for use in clinical practice, and controls not receiving any
intervention. Specifically we will test the hypotheses:
1. Clinical practice, specifically decisions around treatment of individuals with
disorders postnatal development including DD, ASD, and ID will vary widely among all
physician types. This documentation of variation in practice will demonstrate the need
for a new diagnostic service that FirstStepDx PLUS and NextStepDx PLUS would fulfill
2. FirstStepDx PLUS and NextStepDx PLUS will improve the quality and appropriateness of
care and therapeutic plans, as measured by the number of physicians that correctly act
on the results of the assay
A Physician Questionnaire will be administered to all physicians. This questionnaire will
assess physician, patient and practice characteristics. Data gathered from this set of
questions will become part of the baseline (pre-intervention) assessment and used for
analysis. At the baseline assessment, Clinical Performance and Value (CPVs) Vignettes, a
validated tool to measure physician performance and behavior will be used. CPV vignettes
have been used to establish clinical utility in the molecular diagnostic space.
The CPV vignettes used in this study will simulate a clinical encounter for a patient with
an atypical clinical presentation indicative of a possible genetic developmental disorder.
Each physician will provide open-ended responses regarding clinical care. These responses
are scored in five domains (taking a medical history, performing a physical examination,
ordering appropriate tests, making a diagnosis and prescribing treatment against explicit
evidence and criteria as determined by the literature and by expert physicians. Results are
presented as percentage correct controlling for primacy effects using case within pair
randomization. Each case will take approximately 15-20 minutes to complete. All case
responses will be completed electronically online and confidential. No physician or practice
names are used when reporting the results of the study.
The CPVs will be randomly assigned to physicians for each to complete 3 CPVs™ (one from each
type). Each of the CPVs will be scored by physicians for changes in clinical practice
including treatment changes, frequency of follow up, laboratory tests and imaging studies
ordered - see for scoring sheet.
The objective of this study is to assess how FirstStepDx PLUS (and NextStepDx PLUS) testing
affects the variability of clinical practice and resultant impact.
Primary Endpoint Differences in CPV diagnosis/treatment domain score post-intervention
versus baseline for the intervention and control group physicians).
Secondary Endpoints
- Difference in utilization of appropriate treatment including indicated versus
unnecessary therapy pre- and post-intervention between intervention and control groups
- Difference in utilization of laboratory testing such as fluorescence in situ
hybridization (FISH) analyses, global assessment, and utilization of other laboratory
tests pre- and post-intervention, between intervention and control groups
- Difference in overall Clinical Performance and Value Vignettes (CPV®) scores
post-intervention versus baseline between intervention and control groups
;
Allocation: Randomized, Intervention Model: Parallel Assignment, Masking: Single Blind (Subject), Primary Purpose: Health Services Research
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