Klinisk beslutningsstøtte til identifikation af pædiatriske patienter med udiagnosticeret genetisk sygdom (SIGHT)
Randomiseret kontrolleret forsøg til vurdering af EPJ-forudsigelsesmodel til identifikation af pædiatriske patienter med udiagnosticeret genetisk sygdom"
This study will evaluate the effectiveness of SIGHT as a clinical support system to prompt provider/patient discussion and shared decision making regarding the need for genetic testing in the form of a chromosomal microarray. Identifying patients at high predicted probability of needing a test in clinical settings will be examined to determine if it decreases the duration of time to testing and increases diagnostic yield. SIGHT requires only data already collected in routine clinical encounters and is calculated prior to a clinical visit at VUMC.
Studieoversigt
Status
Intervention / Behandling
Undersøgelsestype
Tilmelding (Anslået)
Fase
- Ikke anvendelig
Kontakter og lokationer
Studiesteder
-
-
Tennessee
-
Nashville, Tennessee, Forenede Stater, 37232
- Vanderbilt University Medical
-
-
Deltagelseskriterier
Berettigelseskriterier
Aldre berettiget til at studere
Tager imod sunde frivillige
Køn, der er berettiget til at studere
Beskrivelse
Inclusion Criteria:
- All patients > 1 year old, < 20 years of age with a scheduled visit to the VUMC pediatric primary care.
Exclusion Criteria:
- Patients who have been programmatically excluded due to having already received a chromosomal microarray at VUMC and patients > 20 years of age or < 1 year of age.
Studieplan
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
- Primært formål: Screening
- Tildeling: Randomiseret
- Interventionel model: Parallel tildeling
- Maskning: Ingen (Åben etiket)
Våben og indgreb
Deltagergruppe / Arm |
Intervention / Behandling |
|---|---|
|
Eksperimentel: Intervention
SIGHT predictions will be generated prior to a scheduled encounter in one of the participating study clinics. Patients with a SIGHT probability above a predefined risk level (0.30 predicted risk based on validation and prior chart review by a genetic counselor, Morley et al, 2021 below) will prompt randomization to the standard care or SIGHT-guided intervention arm. For patients randomized to the SIGHT-guided intervention arm, the clinician responsible for care in that encounter (determined in the usual course of care) will receive a message for that patient and details as to the contributing clinical features that led to the high probability. The message will include a recommendation, but providers will have full discretion to offer genetic testing or refer to genetics providers. The management of screening will follow standard of care at VUMC. |
Among patients surpassing a 0.30 probability threshold that have a scheduled visit to pediatric primary care at VUMC, 500 will be randomized to the intervention and a SIGHT-prompted provider message will be generated. |
|
Ingen indgriben: Comparator
All remaining patients will be the comparator arm which will be standard of care as to avoid ethical situations of withholding potentially important care. |
Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
|
Number of Diagnoses in the intervention arm compared to the control arm
Tidsramme: 2 years
|
Number of patients diagnosed via a Chromosomal Microarray. |
2 years
|
Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
|---|---|---|
|
Time to test
Tidsramme: 2 years
|
Duration of time to genetic testing. Time to event, measured from the initial patient visit to the time genetic testing is conducted. |
2 years
|
|
Abnormal CMA
Tidsramme: 2 years
|
Number of patients flagged by SIGHT who's CMA result returned abnormal but in the absence of diagnostic findings. |
2 years
|
|
Rate of genetic testing
Tidsramme: 2 years
|
Rates of genetic testing ordered by providers after a pediatric visit. |
2 years
|
|
Diagnosis via any test (molecular confirmation)
Tidsramme: 2 years
|
Number of patients flagged by SIGHT who receive a diagnosis via any molecular test. |
2 years
|
Samarbejdspartnere og efterforskere
Efterforskere
- Ledende efterforsker: Douglas Ruderfer, PhD, Vanderbilt University Medical Center
Publikationer og nyttige links
Datoer for undersøgelser
Studer store datoer
Studiestart (Faktiske)
Primær færdiggørelse (Anslået)
Studieafslutning (Anslået)
Datoer for studieregistrering
Først indsendt
Først indsendt, der opfyldte QC-kriterier
Først opslået (Faktiske)
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
Sidst verificeret
Mere information
Begreber relateret til denne undersøgelse
Yderligere relevante MeSH-vilkår
Andre undersøgelses-id-numre
- 241678
Plan for individuelle deltagerdata (IPD)
Planlægger du at dele individuelle deltagerdata (IPD)?
IPD-planbeskrivelse
Patients in this study will receive standard of care at Vanderbilt University Medical Center (VUMC) and will not be consented for research participation. As a result, no individual participant data (IPD) will be made available for sharing with other researchers.
Lægemiddel- og udstyrsoplysninger, undersøgelsesdokumenter
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