Genomisk medisin ved VA-studien (GenoVA)
29. september 2022 oppdatert av: Jason Vassy, Boston VA Research Institute, Inc.
Pragmatisk randomisert utprøving av polygen risikoscoring for vanlige sykdommer i primærhelsetjenesten
Denne studien vil bestemme den kliniske effektiviteten av polygen risikoscoretesting blant pasienter med høy genetisk risiko for minst én av seks sykdommer (koronararteriesykdom, atrieflimmer, type 2 diabetes mellitus, tykktarmskreft, brystkreft eller prostatakreft), målt ved tid til diagnose av utbredt eller tilfeldig sykdom over 24 måneder.
Studieoversikt
Status
Rekruttering
Intervensjon / Behandling
Detaljert beskrivelse
En av de mest presserende kontroversene innen genomikk i dag er den kliniske nytten av polygenisk risikoscore (PRS). Ved å utvide omfanget av genomisk risikotesting utover monogene sykdommer, kombinerer PRS informasjon fra hundrevis eller til og med millioner av genetiske loci, hver med en svært liten effektstørrelse på risikoen for vanlig kompleks sykdom. Resultatet er en kontinuerlig kvantitativ risikofaktor for mottakelighet for tilstander som koronararteriesykdom (CAD), diabetes type 2 (T2D) og brystkreft. Sammenlignet med sjeldnere monogene sykdomsvarianter, har PRS større transformativt potensial for folkehelse og helsetjenester i deres evne til å identifisere mye større andeler av befolkningen med betydelig forhøyet risiko for sykdom, noe som letter evidensbasert forebygging og behandling. Dessuten har deres prediksjonsevne blitt betydelig forbedret sammenlignet med tidligere PRS som bare inkluderte et begrenset antall genetiske varianter. Men selv om assosiasjonene mellom PRS og et bredt spekter av vanlige sykdommer er godt etablert (klinisk validitet), er den potensielle effekten av denne informasjonen på pasientens helseutfall (klinisk nytte) fortsatt omstridt og understudert.
Denne studien vil undersøke effektiviteten og implementeringsresultatene fra bruk av PRS for 6 vanlige sykdommer som screenes for av PCP og har etablert forebyggingsstrategier: CAD, AFib, T2D, tykktarmskreft, prostatakreft og brystkreft. Denne prøven har to mål:
Mål 1: Gjennomfør en randomisert kontrollert studie (RCT) for å bestemme den kliniske effektiviteten av PRS blant pasienter med høy genetisk risiko for minst én sykdom, målt ved endringer i klinisk ledelse (prosessresultater) og tid til diagnose av utbredt eller tilfeldig sykdom ( klinisk utfall) over 24 måneder.
Mål 2: Måle høyprioriterte gjennomføringsresultater for genomisk medisin, inkludert kunnskap og oppfatninger fra primærhelsepersonell (PCP) om PRS, pasientaktivering i helsevesenet, medisinoverholdelse og kostnader.
Studietype
Intervensjonell
Registrering (Forventet)
1076
Fase
- Ikke aktuelt
Kontakter og plasseringer
Denne delen inneholder kontaktinformasjon for de som utfører studien, og informasjon om hvor denne studien blir utført.
Studiekontakt
- Navn: Jason L. Vassy, MD, MPH, SM
- Telefonnummer: 857-364-2561
- E-post: jvassy@partners.org
Studiesteder
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Massachusetts
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Boston, Massachusetts, Forente stater, 02130-4817
- Rekruttering
- VA Boston Healthcare System
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Ta kontakt med:
- Jason L. Vassy, MD, MPH, SM
- Telefonnummer: 857-364-2561
- E-post: jvassy@partners.org
-
-
Deltakelseskriterier
Forskere ser etter personer som passer til en bestemt beskrivelse, kalt kvalifikasjonskriterier. Noen eksempler på disse kriteriene er en persons generelle helsetilstand eller tidligere behandlinger.
Kvalifikasjonskriterier
Alder som er kvalifisert for studier
50 år til 70 år (Voksen, Eldre voksen)
Tar imot friske frivillige
Nei
Kjønn som er kvalifisert for studier
Alle
Beskrivelse
Inklusjonskriterier:
- Alder 50-70 år ved innmelding
- Ingen kjent diagnose av følgende tilstander, først screenet av International Classification of Disease (ICD)-koder eller andre elektroniske helsejournaldata (EPJ) ved bruk av validerte metoder og deretter bekreftet med potensielle pasientdeltakere under rekruttering: koronararteriesykdom, atrieflimmer, diabetes type 2, tykktarmskreft, brystkreft, prostatakreft
Ekskluderingskriterier:
Pasienter vil ikke være kvalifisert hvis de:
- Ha en kjent diagnose av minst én av de seks sykdommene av interesse
- Er yngre enn 50 år eller eldre enn 70 år
- er gravide
- Er fengslet eller institusjonalisert
Studieplan
Denne delen gir detaljer om studieplanen, inkludert hvordan studien er utformet og hva studien måler.
Hvordan er studiet utformet?
Designdetaljer
- Primært formål: Screening
- Tildeling: Randomisert
- Intervensjonsmodell: Parallell tildeling
- Masking: Enkelt
Våpen og intervensjoner
Deltakergruppe / Arm |
Intervensjon / Behandling |
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Eksperimentell: Polygen risikoscore (PRS) - høyrisikostratum
Pasientdeltakere i PRS-høy-armen og deres leverandører vil motta sine høy-PRS-resultater ved baseline, sammen med pedagogiske ressurser om resultatene.
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Polygen risikoscorerapport fra et Clinical Laboratory Improvement Amendment (CLIA)-sertifisert laboratorium for koronararteriesykdom, atrieflimmer, diabetes type 2, tykktarmskreft, brystkreft (kun for kvinner) og prostatakreft (kun for menn), levert sammen med utdanningsmateriell på pasient- og leverandørnivå.
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Aktiv komparator: Vanlig omsorg (UC) - høyrisiko stratum
Pasientdeltakere i UC-høy-armen og deres leverandører vil motta sine høye PRS-resultater etter en 24-måneders observasjonsperiode, sammen med pedagogiske ressurser om resultatene.
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Polygen risikoscorerapport fra et Clinical Laboratory Improvement Amendment (CLIA)-sertifisert laboratorium for koronararteriesykdom, atrieflimmer, diabetes type 2, tykktarmskreft, brystkreft (kun for kvinner) og prostatakreft (kun for menn), levert sammen med utdanningsmateriell på pasient- og leverandørnivå.
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Eksperimentell: Polygen risikoscore (PRS) - gjennomsnittlig risikostratum
Pasientdeltakere i PRS-gjennomsnittlig arm og deres leverandører vil motta sine gjennomsnittlige PRS-resultater ved baseline, sammen med utdanningsressurser om resultatene.
|
Polygen risikoscorerapport fra et Clinical Laboratory Improvement Amendment (CLIA)-sertifisert laboratorium for koronararteriesykdom, atrieflimmer, diabetes type 2, tykktarmskreft, brystkreft (kun for kvinner) og prostatakreft (kun for menn), levert sammen med utdanningsmateriell på pasient- og leverandørnivå.
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Aktiv komparator: Vanlig omsorg (UC) - gjennomsnittlig risikolag
Pasientdeltakere i UC-gjennomsnittlig arm og deres leverandører vil motta sine gjennomsnittlige PRS-resultater etter en 24-måneders observasjonsperiode, sammen med pedagogiske ressurser om resultatene.
|
Polygen risikoscorerapport fra et Clinical Laboratory Improvement Amendment (CLIA)-sertifisert laboratorium for koronararteriesykdom, atrieflimmer, diabetes type 2, tykktarmskreft, brystkreft (kun for kvinner) og prostatakreft (kun for menn), levert sammen med utdanningsmateriell på pasient- og leverandørnivå.
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Hva måler studien?
Primære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Tid til ny diagnose av vanlig kompleks sykdom
Tidsramme: 24 måneder etter innmelding
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Det primære resultatet av studien er tid til diagnose både av udiagnostiserte utbredte tilfeller av de 6 måltilstandene og hendelsestilfeller i løpet av studieperioden.
Dette sammensatte utfallet vil bare inkludere klinisk signifikante diagnoser, som bedømt av ekspert gjennomgang av kliniske diagrammer.
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24 måneder etter innmelding
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Sekundære resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Diagnostisk testing
Tidsramme: 24 måneder etter innmelding
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Eventuelle bevis for at pasient-deltakeren gjennomgikk ytterligere diagnostisk testing for de seks målsykdommene siden registreringen: koronararteriesykdom (stresstesting, hjerte-CT for koronararteriekalsium (CAC), koronar angiografi), atrieflimmer (EKG, hjerterytmeovervåking), type 2-diabetes (hemoglobin A1c, blodsukker), kolorektal kreft (koloskopi, sigmoidoskopi, fekal blodprøver, CT-kolonografi), brystkreft (mammografi, bryst-MR, brystultralyd, brystbiopsi) og prostatakreft (PSA-testing, prostatabiopsi) ).
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24 måneder etter innmelding
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Pasientaktivering
Tidsramme: Baseline og 24 måneder etter påmelding
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Selvrapportert forståelse, kompetanse og vilje til å delta helsevesenets beslutninger og prosesser vurdert på grunnlags- og studiesluttundersøkelsene, ved å bruke den 13-elements korte formen av Patient Activation Measure (Hibbard, Health Services Research 2005).
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Baseline og 24 måneder etter påmelding
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Helsekostnader
Tidsramme: 24 måneder etter innmelding
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En kombinasjon av administrative data og mikrokostnadsmetoder vil bli brukt for å estimere kostnadene ved intervensjonen og de påfølgende helsekostnader på pasientnivå i løpet av de 24 månedene etter innmelding.
Estimater av infrastrukturen og personell som trengs for å levere intervensjonen vil bli utledet empirisk fra studien.
Helsekostnader vil bli abstrahert fra fakturerings- og administrative data.
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24 måneder etter innmelding
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Medisinoverholdelse
Tidsramme: Baseline og 24 måneder etter påmelding
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Egenrapport om å ta medisiner som foreskrevet vurdert på grunnlinje- og studiesluttundersøkelsen, ved bruk av 3-element Voils Medication Adherence Survey (Voils, Medical Care, 2012).
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Baseline og 24 måneder etter påmelding
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Andre resultatmål
Resultatmål |
Tiltaksbeskrivelse |
Tidsramme |
|---|---|---|
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Gi kunnskap og tro om PRS
Tidsramme: 24 måneder etter innmelding
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Semistrukturerte intervjuer vil samle inn kvalitative data om deltakende tilbyderes forståelse av og opplevd nytte av PRS-risikoinformasjonen.
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24 måneder etter innmelding
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Blodtrykk
Tidsramme: Baseline og 24 måneder etter påmelding
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De siste systoliske og diastoliske blodtrykksverdiene registrert i journalen før eller på innmeldingsdatoen og før eller på datoen 24 måneder etter innmelding.
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Baseline og 24 måneder etter påmelding
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Kroppsmasseindeks (BMI)
Tidsramme: Baseline og 24 måneder etter påmelding
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De siste BMI-verdiene registrert i journalen før eller på innmeldingsdatoen og før eller på datoen 24 måneder etter innmelding.
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Baseline og 24 måneder etter påmelding
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Aspirin bruk
Tidsramme: Baseline og 24 måneder etter påmelding
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Selvrapportert bruk av reseptbelagte eller reseptfrie aspirin vil bli vurdert på grunnlinje- og studiesluttundersøkelsene.
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Baseline og 24 måneder etter påmelding
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Fysisk aktivitet
Tidsramme: Baseline og 24 måneder etter påmelding.
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Selvrapportert fysisk vil bli vurdert på grunnlinje- og studiesluttundersøkelsene ved hjelp av Rapid Assessment of Physical Activity.
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Baseline og 24 måneder etter påmelding.
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Alkoholinntak
Tidsramme: Baseline og 24 måneder etter påmelding
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Selvrapportert alkohol vil bli vurdert på baseline- og studiesluttundersøkelsene ved å bruke mål fra Behavioral Risk Factor Surveillance System, registrert som en ordinær 5-element Likert-respons (fra "Aldri" til "Veldig ofte").
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Baseline og 24 måneder etter påmelding
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Inntak av bearbeidet kjøtt
Tidsramme: Baseline og 24 måneder etter påmelding
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Selvrapportert inntak av bearbeidet kjøtt vurdert på grunnlags- og studiesluttundersøkelsene ved hjelp av et spørsmål om matfrekvens fra National Cancer Institute Eating Habits Questionnaire, registrert som en ordinær 5-element Likert-svar (fra "Aldri" til "Veldig ofte") .
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Baseline og 24 måneder etter påmelding
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Low-density lipoprotein kolesterol (LDL-C)
Tidsramme: Baseline og 24 måneder etter påmelding
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De siste LDL-C-verdiene registrert i journalen før eller på innmeldingsdatoen og før eller på datoen 24 måneder etter innmelding.
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Baseline og 24 måneder etter påmelding
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Røykestatus
Tidsramme: Baseline og 24 måneder etter påmelding
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Selvrapportert røykestatus vil bli vurdert på grunnlinje- og studiesluttundersøkelsene ved hjelp av tiltak fra Behavioral Risk Factor Surveillance System.
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Baseline og 24 måneder etter påmelding
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Risikoreduserende medisinresept
Tidsramme: 24 måneder etter innmelding
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Relevante reseptbelagte medisiner endres i løpet av en 24-måneders observasjonsperiode, inkludert antihypertensiva, kolesterolsenkende medisiner, antikoagulantia, blodplatehemmere, 5-alfa-reduktasehemmere, selektive østrogenreseptormodulatorer, aromatasehemmere, som abstrahert fra journalgjennomgang.
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24 måneder etter innmelding
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Helsestatus og livskvalitet
Tidsramme: Baseline og 24 måneder etter påmelding
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Som bestemt av data samlet inn fra grunnundersøkelsen (VR-12)
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Baseline og 24 måneder etter påmelding
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Samarbeidspartnere og etterforskere
Det er her du vil finne personer og organisasjoner som er involvert i denne studien.
Samarbeidspartnere
Etterforskere
- Hovedetterforsker: Jason L. Vassy, MD, MPH, SM, Harvard Medical School (HMS and HSDM)
Publikasjoner og nyttige lenker
Den som er ansvarlig for å legge inn informasjon om studien leverer frivillig disse publikasjonene. Disse kan handle om alt relatert til studiet.
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- Christensen KD, Vassy JL, Phillips KA, Blout CL, Azzariti DR, Lu CY, Robinson JO, Lee K, Douglas MP, Yeh JM, Machini K, Stout NK, Rehm HL, McGuire AL, Green RC, Dukhovny D; MedSeq Project. Short-term costs of integrating whole-genome sequencing into primary care and cardiology settings: a pilot randomized trial. Genet Med. 2018 Dec;20(12):1544-1553. doi: 10.1038/gim.2018.35. Epub 2018 Mar 22.
- Barnett PG. An improved set of standards for finding cost for cost-effectiveness analysis. Med Care. 2009 Jul;47(7 Suppl 1):S82-8. doi: 10.1097/MLR.0b013e31819e1f3f.
- Vassy JL, Shrader P, Yang Q, Liu T, Yesupriya A, Chang MH, Dowling NF, Ned RM, Dupuis J, Florez JC, Khoury MJ, Meigs JB. Genetic associations with metabolic syndrome and its quantitative traits by race/ethnicity in the United States. Metab Syndr Relat Disord. 2011 Dec;9(6):475-82. doi: 10.1089/met.2011.0021. Epub 2011 Aug 17.
- Vassy JL, Shrader P, Jonsson A, Fox CS, Lyssenko V, Isomaa B, Groop L, Meigs JB, Franks PW. Association between parental history of diabetes and type 2 diabetes genetic risk scores in the PPP-Botnia and Framingham Offspring Studies. Diabetes Res Clin Pract. 2011 Aug;93(2):e76-e79. doi: 10.1016/j.diabres.2011.04.013. Epub 2011 May 12.
- Vassy JL, Durant NH, Kabagambe EK, Carnethon MR, Rasmussen-Torvik LJ, Fornage M, Lewis CE, Siscovick DS, Meigs JB. A genotype risk score predicts type 2 diabetes from young adulthood: the CARDIA study. Diabetologia. 2012 Oct;55(10):2604-2612. doi: 10.1007/s00125-012-2637-7. Epub 2012 Jul 11.
- Vassy JL, Dasmahapatra P, Meigs JB, Schork NJ, Magnussen CG, Chen W, Raitakari OT, Pencina MJ, Jamal SM, Berenson GS, Goodman E. Genotype prediction of adult type 2 diabetes from adolescence in a multiracial population. Pediatrics. 2012 Nov;130(5):e1235-42. doi: 10.1542/peds.2012-1132. Epub 2012 Oct 15.
- Vassy JL, Hivert MF, Porneala B, Dauriz M, Florez JC, Dupuis J, Siscovick DS, Fornage M, Rasmussen-Torvik LJ, Bouchard C, Meigs JB. Polygenic type 2 diabetes prediction at the limit of common variant detection. Diabetes. 2014 Jun;63(6):2172-82. doi: 10.2337/db13-1663. Epub 2014 Feb 11. Erratum In: Diabetes. 2018 Apr 18;:
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- Green RC, Goddard KAB, Jarvik GP, Amendola LM, Appelbaum PS, Berg JS, Bernhardt BA, Biesecker LG, Biswas S, Blout CL, Bowling KM, Brothers KB, Burke W, Caga-Anan CF, Chinnaiyan AM, Chung WK, Clayton EW, Cooper GM, East K, Evans JP, Fullerton SM, Garraway LA, Garrett JR, Gray SW, Henderson GE, Hindorff LA, Holm IA, Lewis MH, Hutter CM, Janne PA, Joffe S, Kaufman D, Knoppers BM, Koenig BA, Krantz ID, Manolio TA, McCullough L, McEwen J, McGuire A, Muzny D, Myers RM, Nickerson DA, Ou J, Parsons DW, Petersen GM, Plon SE, Rehm HL, Roberts JS, Robinson D, Salama JS, Scollon S, Sharp RR, Shirts B, Spinner NB, Tabor HK, Tarczy-Hornoch P, Veenstra DL, Wagle N, Weck K, Wilfond BS, Wilhelmsen K, Wolf SM, Wynn J, Yu JH; CSER Consortium. Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine. Am J Hum Genet. 2016 Jun 2;98(6):1051-1066. doi: 10.1016/j.ajhg.2016.04.011. Epub 2016 May 12. Erratum In: Am J Hum Genet. 2016 Jul 7;99(1):246.
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- Brunette CA, Miller SJ, Majahalme N, Hau C, MacMullen L, Advani S, Ludin SA, Zimolzak AJ, Vassy JL. Pragmatic Trials in Genomic Medicine: The Integrating Pharmacogenetics In Clinical Care (I-PICC) Study. Clin Transl Sci. 2020 Mar;13(2):381-390. doi: 10.1111/cts.12723. Epub 2019 Dec 18.
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Hjelpsomme linker
- This link references a poster presentation at the annual American Medical Informatics Association (AMIA) in 2017 by authors Majahalme N, Miller SJ, Zimolzak AJ, and Vassy JL.
- This link references the National Veterans Health Equity report for FY2013, published by the VA Office of Health Equity.
- This link references the Surveillance, Epidemiology, and End Results (SEER) database from November 2017, published by the NIH.
- This link references the National Diabetes Statistics Report from 2017, published by the Centers for Disease Control and Prevention (CDC).
- This link references a book entitled "Systematic Methods for Collecting and Analyzing Multidisciplinary Team Based Qualitative Data," authored by Carey JW and Gelaude D.
- This link references a book entitled "Applied Thematic Analysis," authored by Guest GS, MacQueen KM, and Namey EE.
Studierekorddatoer
Disse datoene sporer fremdriften for innsending av studieposter og sammendragsresultater til ClinicalTrials.gov. Studieposter og rapporterte resultater gjennomgås av National Library of Medicine (NLM) for å sikre at de oppfyller spesifikke kvalitetskontrollstandarder før de legges ut på det offentlige nettstedet.
Studer hoveddatoer
Studiestart (Faktiske)
17. juli 2020
Primær fullføring (Forventet)
30. september 2025
Studiet fullført (Forventet)
30. september 2025
Datoer for studieregistrering
Først innsendt
31. mars 2020
Først innsendt som oppfylte QC-kriteriene
31. mars 2020
Først lagt ut (Faktiske)
2. april 2020
Oppdateringer av studieposter
Sist oppdatering lagt ut (Faktiske)
3. oktober 2022
Siste oppdatering sendt inn som oppfylte QC-kriteriene
29. september 2022
Sist bekreftet
1. september 2022
Mer informasjon
Begreper knyttet til denne studien
Nøkkelord
Ytterligere relevante MeSH-vilkår
- Sykdommer i fordøyelsessystemet
- Patologiske prosesser
- Hjertesykdommer
- Kardiovaskulære sykdommer
- Vaskulære sykdommer
- Glukosemetabolismeforstyrrelser
- Metabolske sykdommer
- Arteriosklerose
- Arterielle okklusive sykdommer
- Neoplasmer
- Urogenitale neoplasmer
- Neoplasmer etter nettsted
- Sykdommer i det endokrine systemet
- Gastrointestinale neoplasmer
- Neoplasmer i fordøyelsessystemet
- Gastrointestinale sykdommer
- Sukkersyke
- Genitale neoplasmer, hanner
- Prostata sykdommer
- Kolonsykdommer
- Tarmsykdommer
- Intestinale neoplasmer
- Rektale sykdommer
- Arytmier, hjerte
- Koronararteriesykdom
- Myokardiskemi
- Koronar sykdom
- Diabetes mellitus, type 2
- Prostatiske neoplasmer
- Kolorektale neoplasmer
- Atrieflimmer
Andre studie-ID-numre
- 0594 (Annet stipend/finansieringsnummer: Instituto Mexicano del Seguro Social (IMSS))
Plan for individuelle deltakerdata (IPD)
Planlegger du å dele individuelle deltakerdata (IPD)?
Ja
IPD-planbeskrivelse
Vi vil dele avidentifiserte prøvedata på individnivå gjennom et datalager som ligger på en sikker VA-server og kun tilgjengelig for eksterne etterforskere med Institutional Review Board (IRB).
IPD-delingstidsramme
Ved publisering av primærresultater
Tilgangskriterier for IPD-deling
Tilgang vil være betinget av IRB-godkjenning
IPD-deling Støtteinformasjonstype
- Studieprotokoll
- Statistisk analyseplan (SAP)
- Informert samtykkeskjema (ICF)
Legemiddel- og utstyrsinformasjon, studiedokumenter
Studerer et amerikansk FDA-regulert medikamentprodukt
Nei
Studerer et amerikansk FDA-regulert enhetsprodukt
Nei
Denne informasjonen ble hentet direkte fra nettstedet clinicaltrials.gov uten noen endringer. Hvis du har noen forespørsler om å endre, fjerne eller oppdatere studiedetaljene dine, vennligst kontakt register@clinicaltrials.gov. Så snart en endring er implementert på clinicaltrials.gov, vil denne også bli oppdatert automatisk på nettstedet vårt. .