Den elektroniske lægejournal og GEnomics (eMERGE) netværksgenomisk risikovurdering (eMERGE)
14. august 2026 opdateret af: Josh Peterson, Vanderbilt University Medical Center
EMERGE-netværket omfavner muligheden for at bruge nye metoder inden for genomisk medicin, informationsvidenskab og forskningsdeltagerengagement til at identificere mennesker med meget høj risiko for specifikke sygdomme og anbefale individualiserede tilgange til forebyggelse og pleje.
Efterforskerne vil udføre et prospektivt studie med forskellige og undertjente deltagere på tværs af ti eMERGE-undersøgelsessteder for at evaluere den kliniske implementering af et Genome Informed Risk Assessment (GIRA) værktøj, der kombinerer genetisk, familiehistorie og klinisk risikoinformation fra deltagerne.
Studieoversigt
Status
Aktiv, ikke rekrutterende
Betingelser
Intervention / Behandling
Detaljeret beskrivelse
Formålet med undersøgelsen er at afgøre, om tilvejebringelse af en Genome Informed Risk Assessment (GIRA) vil påvirke kliniske handlinger foretaget af udbydere og patienter for at styre sygdomsrisikoen og deltagernes tilbøjelighed til at udvikle en sygdom, der er rapporteret i GIRA.
Nye værktøjer inden for genomisk medicin - polygene risikoscore, monogene genetiske screeningstests, platforme til at fange familiehistorie og avanceret elektronisk fænotyping - giver mulighed for tidlig identifikation af personer med særlig høj risiko for almindelige sygdomme.
Efterforskerne udviklede metoder til at generere integrerede genomiske risikovurderinger for ti tilstande; en plan for at engagere, rekruttere og fastholde ~25.000 forsøgspersoner til at modtage disse vurderinger; og metoder til at studere resultater i dem, der er udpeget til høj risiko og dem, der er udpeget til ikke-høj risiko.
Ved at øge forståelsen af nye metoder til at skabe og levere integrerede genomiske risikovurderinger, vil dette projekt muliggøre forebyggelse og tidlig behandling af mennesker med høj risiko for almindelige sygdomme.
Undersøgelsestype
Interventionel
Tilmelding (Faktiske)
26877
Fase
- Ikke anvendelig
Kontakter og lokationer
Dette afsnit indeholder kontaktoplysninger for dem, der udfører undersøgelsen, og oplysninger om, hvor denne undersøgelse udføres.
Studiesteder
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Alabama
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Birmingham, Alabama, Forenede Stater, 35233
- University of Alabama Birmingham
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Arizona
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Tempe, Arizona, Forenede Stater, 85012
- Mountain Park Health Center
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Illinois
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Chicago, Illinois, Forenede Stater, 60611
- Northwestern
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Massachusetts
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Boston, Massachusetts, Forenede Stater, 02115
- Brigham and Women's Hospital
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Boston, Massachusetts, Forenede Stater, 02114
- Massachusetts General Hospital
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Minnesota
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Rochester, Minnesota, Forenede Stater, 55905
- Mayo Clinic
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New York
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New York, New York, Forenede Stater, 10032
- Columbia University
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New York, New York, Forenede Stater, 10029
- Mount Sinai
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Ohio
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Cincinnati, Ohio, Forenede Stater, 45229
- Cincinnati Children's Hospital Medical Center
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Pennsylvania
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Philadelphia, Pennsylvania, Forenede Stater, 19104
- Children's Hospital of Philadelphia
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Tennessee
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Nashville, Tennessee, Forenede Stater, 37203
- Vanderbilt University Medical Center
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Washington
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Seattle, Washington, Forenede Stater, 98195
- University of Washington
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Deltagelseskriterier
Forskere leder efter personer, der passer til en bestemt beskrivelse, kaldet berettigelseskriterier. Nogle eksempler på disse kriterier er en persons generelle helbredstilstand eller tidligere behandlinger.
Berettigelseskriterier
Aldre berettiget til at studere
3 år til 75 år (Barn, Voksen, Ældre voksen)
Tager imod sunde frivillige
Ja
Beskrivelse
Inklusionskriterier:
- Voksne 18-75
- Børn 3 til <18
- Kunne læse eller forstå engelsk eller spansk
- I stand til at give en sundhedsudbyder eller kliniker til at modtage resultater
- Vil gerne acceptere GIRA-rapporten
Ekskluderingskriterier:
- Manglende evne til at give samtykke
- Transplantation (fast organ eller knoglemarv) eller transfusion inden for 8 uger
- Forskningspersonale og efterforskere i eMERGE
- Ikke patient på forældreinstitution
Studieplan
Dette afsnit indeholder detaljer om studieplanen, herunder hvordan undersøgelsen er designet, og hvad undersøgelsen måler.
Hvordan er undersøgelsen tilrettelagt?
Design detaljer
- Primært formål: Andet
- Tildeling: N/A
- Interventionel model: Enkelt gruppeopgave
- Maskning: Ingen (Åben etiket)
Våben og indgreb
Deltagergruppe / Arm |
Intervention / Behandling |
|---|---|
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Eksperimentel: Deltagere modtager en Genome Informed Risk Assessment (GIRA)
Alle deltagere og deres sundhedsudbydere vil modtage en Genome Informed Risk Assessment (GIRA) rapport.
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En Genome Informed Risk Assessment (GIRA) rapport, der kombinerer genetiske (monogene risici og polygene risikoscores), familiehistorie og klinisk risikoinformation fra deltagere.
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Hvad måler undersøgelsen?
Primære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
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Antallet af nye sundhedstiltag efter returnering af den genominformerede risikovurdering
Tidsramme: Baseline til 6 måneder efter returnering af resultater til deltager
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Antallet af nye sundhedshandlinger vil blive målt ved hjælp af elektroniske patientjournaldata og deltagerrapporterede resultater gennem en REDCap-undersøgelse.
Forudspecificerede handlinger vil omfatte en tilstandsspecifik sammensætning af nye møder, kliniske ordrer eller specialhenvisninger til klinisk evaluering i forbindelse med tilstanden/tilstandene, placeret af en udbyder inden for 6 måneder efter offentliggørelsen af resultatet.
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Baseline til 6 måneder efter returnering af resultater til deltager
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Sekundære resultatmål
Resultatmål |
Foranstaltningsbeskrivelse |
Tidsramme |
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Antal nydiagnosticerede tilstande efter returnering af den genominformerede risikovurdering
Tidsramme: 6 måneder og 12 måneder efter returnering af resultater til deltager
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Antallet af nydiagnosticerede tilstande inkluderet i eMERGE-undersøgelsen vil blive målt ved hjælp af data fra deltagernes elektroniske sundhedsjournaler
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6 måneder og 12 måneder efter returnering af resultater til deltager
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Antal risikoreducerende indgreb efter returnering af den genominformerede risikovurdering
Tidsramme: 6 måneder og 12 måneder efter returnering af resultater til deltager
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Antallet af risikoreducerende indgreb vil blive målt ved REDCap-undersøgelse sammen med data fra deltagernes elektroniske sundhedsjournaler
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6 måneder og 12 måneder efter returnering af resultater til deltager
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Samarbejdspartnere og efterforskere
Det er her, du vil finde personer og organisationer, der er involveret i denne undersøgelse.
Efterforskere
- Ledende efterforsker: Josh Peterson, MD, MPH, Vanderbilt University Medical Center
Publikationer og nyttige links
Den person, der er ansvarlig for at indtaste oplysninger om undersøgelsen, leverer frivilligt disse publikationer. Disse kan handle om alt relateret til undersøgelsen.
Generelle publikationer
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Datoer for undersøgelser
Disse datoer sporer fremskridtene for indsendelser af undersøgelsesrekord og resumeresultater til ClinicalTrials.gov. Studieregistreringer og rapporterede resultater gennemgås af National Library of Medicine (NLM) for at sikre, at de opfylder specifikke kvalitetskontrolstandarder, før de offentliggøres på den offentlige hjemmeside.
Studer store datoer
Studiestart (Faktiske)
16. februar 2022
Primær færdiggørelse (Anslået)
30. april 2030
Studieafslutning (Anslået)
31. december 2030
Datoer for studieregistrering
Først indsendt
3. marts 2022
Først indsendt, der opfyldte QC-kriterier
11. marts 2022
Først opslået (Faktiske)
14. marts 2022
Opdateringer af undersøgelsesjournaler
Sidste opdatering sendt (Faktiske)
18. august 2026
Sidste opdatering indsendt, der opfyldte kvalitetskontrolkriterier
14. august 2026
Sidst verificeret
1. august 2026
Mere information
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Yderligere relevante MeSH-vilkår
Andre undersøgelses-id-numre
- 211043
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produkt fremstillet i og eksporteret fra U.S.A.
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