Genomisk medicin vid VA-studien (GenoVA)
29 september 2022 uppdaterad av: Jason Vassy, Boston VA Research Institute, Inc.
Pragmatisk randomiserad prövning av polygenisk riskpoäng för vanliga sjukdomar i primärvården
Denna studie kommer att fastställa den kliniska effektiviteten av polygenisk riskpoängtestning bland patienter med hög genetisk risk för minst en av sex sjukdomar (kransartärsjukdom, förmaksflimmer, typ 2-diabetes mellitus, kolorektal cancer, bröstcancer eller prostatacancer), uppmätt. genom tid till diagnos av utbredd eller incident sjukdom under 24 månader.
Studieöversikt
Status
Rekrytering
Betingelser
Intervention / Behandling
Detaljerad beskrivning
En av de mest angelägna kontroverserna inom genomik idag är den kliniska nyttan av polygena riskpoäng (PRS). Genom att bredda omfattningen av genomisk risktestning bortom monogena sjukdomar kombinerar PRS information från hundratals eller till och med miljoner genetiska loci, var och en med en mycket liten effektstorlek på risken för vanliga komplexa sjukdomar. Resultatet är en kontinuerlig kvantitativ riskfaktor för mottaglighet för tillstånd som kranskärlssjukdom (CAD), typ 2-diabetes (T2D) och bröstcancer. Jämfört med sällsynta monogena sjukdomsvarianter har PRS större transformativ potential för folkhälsa och sjukvård i sin förmåga att identifiera mycket större andelar av befolkningen med signifikant förhöjd risk för sjukdom, vilket underlättar evidensbaserad förebyggande och hantering. Dessutom har deras förutsägelseförmåga förbättrats avsevärt jämfört med tidigare PRS som endast inkluderade ett begränsat antal genetiska varianter. Men även om sambanden mellan PRS och ett brett spektrum av vanliga sjukdomar är väl etablerade (klinisk validitet), är den potentiella inverkan av denna information på patienthälsoresultaten (klinisk användbarhet) fortfarande omtvistad och understuderad.
Denna studie kommer att undersöka effektiviteten och implementeringsresultaten från användningen av PRS för 6 vanliga sjukdomar som screenas för av PCP och har etablerade förebyggande strategier: CAD, AFib, T2D, kolorektal cancer, prostatacancer och bröstcancer. Denna prövning har två syften:
Syfte 1: Genomför en randomiserad kontrollerad studie (RCT) för att fastställa den kliniska effektiviteten av PRS bland patienter med hög genetisk risk för minst en sjukdom, mätt genom förändringar i klinisk hantering (processresultat) och tid till diagnos av prevalent eller incident sjukdom ( kliniskt utfall) över 24 månader.
Mål 2: Mäta högprioriterade genomisk medicinimplementeringsresultat, inklusive primärvårdsleverantörers (PCP) kunskap och övertygelser om PRS, patientaktivering i vården, medicinering och kostnader.
Studietyp
Interventionell
Inskrivning (Förväntat)
1076
Fas
- Inte tillämpbar
Kontakter och platser
Det här avsnittet innehåller kontaktuppgifter för dem som genomför studien och information om var denna studie genomförs.
Studiekontakt
- Namn: Jason L. Vassy, MD, MPH, SM
- Telefonnummer: 857-364-2561
- E-post: jvassy@partners.org
Studieorter
-
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Massachusetts
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Boston, Massachusetts, Förenta staterna, 02130-4817
- Rekrytering
- VA Boston Healthcare System
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Kontakt:
- Jason L. Vassy, MD, MPH, SM
- Telefonnummer: 857-364-2561
- E-post: jvassy@partners.org
-
-
Deltagandekriterier
Forskare letar efter personer som passar en viss beskrivning, så kallade behörighetskriterier. Några exempel på dessa kriterier är en persons allmänna hälsotillstånd eller tidigare behandlingar.
Urvalskriterier
Åldrar som är berättigade till studier
50 år till 70 år (Vuxen, Äldre vuxen)
Tar emot friska volontärer
Nej
Kön som är behöriga för studier
Allt
Beskrivning
Inklusionskriterier:
- Ålder 50-70 år vid inskrivning
- Ingen känd diagnos av följande tillstånd, initialt screenad med ICD-koder (International Classification of Disease) eller andra elektroniska journaldata (EHR) med validerade metoder och sedan bekräftade med potentiella patientdeltagare under rekryteringen: kranskärlssjukdom, förmaksflimmer, typ 2-diabetes, kolorektal cancer, bröstcancer, prostatacancer
Exklusions kriterier:
Patienter kommer inte att vara berättigade om de:
- Ha en känd diagnos på minst en av de sex sjukdomarna av intresse
- Är yngre än 50 år eller äldre än 70 år
- är gravida
- Är fängslade eller institutionaliserade
Studieplan
Det här avsnittet ger detaljer om studieplanen, inklusive hur studien är utformad och vad studien mäter.
Hur är studien utformad?
Designdetaljer
- Primärt syfte: Undersökning
- Tilldelning: Randomiserad
- Interventionsmodell: Parallellt uppdrag
- Maskning: Enda
Vapen och interventioner
Deltagargrupp / Arm |
Intervention / Behandling |
|---|---|
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Experimentell: Polygenisk riskpoäng (PRS) - högriskskikt
Patientdeltagare i PRS-högarmen och deras leverantörer kommer att få sina höga PRS-resultat vid baslinjen, tillsammans med utbildningsresurser om resultaten.
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Polygen riskpoängrapport från ett Clinical Laboratory Improvement Amendment (CLIA)-certifierat laboratorium för kranskärlssjukdom, förmaksflimmer, typ 2-diabetes, kolorektal cancer, bröstcancer (endast för kvinnor) och prostatacancer (endast för män), levererad tillsammans med utbildningsmaterial på patient- och leverantörsnivå.
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Aktiv komparator: Vanlig vård (UC) - högriskskikt
Patientdeltagare i UC-högarmen och deras leverantörer kommer att få sina höga PRS-resultat efter en 24-månaders observationsperiod, tillsammans med utbildningsresurser om resultaten.
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Polygen riskpoängrapport från ett Clinical Laboratory Improvement Amendment (CLIA)-certifierat laboratorium för kranskärlssjukdom, förmaksflimmer, typ 2-diabetes, kolorektal cancer, bröstcancer (endast för kvinnor) och prostatacancer (endast för män), levererad tillsammans med utbildningsmaterial på patient- och leverantörsnivå.
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Experimentell: Polygenisk riskpoäng (PRS) - genomsnittligt riskskikt
Patientdeltagare i PRS-genomsnittsgruppen och deras leverantörer kommer att få sina genomsnittliga PRS-resultat vid baslinjen, tillsammans med utbildningsresurser om resultaten.
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Polygen riskpoängrapport från ett Clinical Laboratory Improvement Amendment (CLIA)-certifierat laboratorium för kranskärlssjukdom, förmaksflimmer, typ 2-diabetes, kolorektal cancer, bröstcancer (endast för kvinnor) och prostatacancer (endast för män), levererad tillsammans med utbildningsmaterial på patient- och leverantörsnivå.
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Aktiv komparator: Vanlig vård (UC) - genomsnittligt riskskikt
Patientdeltagare i UC-genomsnittsarmen och deras leverantörer kommer att få sina genomsnittliga PRS-resultat efter en 24-månaders observationsperiod, tillsammans med utbildningsresurser om resultaten.
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Polygen riskpoängrapport från ett Clinical Laboratory Improvement Amendment (CLIA)-certifierat laboratorium för kranskärlssjukdom, förmaksflimmer, typ 2-diabetes, kolorektal cancer, bröstcancer (endast för kvinnor) och prostatacancer (endast för män), levererad tillsammans med utbildningsmaterial på patient- och leverantörsnivå.
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Vad mäter studien?
Primära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
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Tid till ny diagnos av vanliga komplex sjukdom
Tidsram: 24 månader efter inskrivningen
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Det primära resultatet av studien är tid till diagnos både av odiagnostiserade vanliga fall av de 6 måltillstånden och incidentfall under studieperioden.
Detta sammansatta resultat kommer endast att inkludera kliniskt signifikanta diagnoser, enligt bedömning av expertens kliniska kartgranskning.
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24 månader efter inskrivningen
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Sekundära resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
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Diagnostisk testning
Tidsram: 24 månader efter inskrivningen
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Eventuella bevis för att patient-deltagaren genomgick ytterligare diagnostiska tester för de sex målsjukdomarna sedan inskrivningen: kranskärlssjukdom (stresstestning, hjärt-CT för kranskärlskalcium (CAC), kranskärlsangiografi), förmaksflimmer (EKG, hjärtrytmövervakning), typ 2-diabetes (hemoglobin A1c, blodsocker), kolorektal cancer (koloskopi, sigmoidoskopi, fekal blodprovning, CT-koloografi), bröstcancer (mammografi, bröst-MR, bröstultraljud, bröstbiopsi) och prostatacancer (PSA-testning, prostatabiopsi) ).
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24 månader efter inskrivningen
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Patientaktivering
Tidsram: Baslinje och 24 månader efter registrering
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Självrapporterad förståelse, kompetens och vilja att delta i hälso- och sjukvårdens beslut och processer utvärderade i baslinje- och studieslutsundersökningarna, med hjälp av den 13-delade kortformen av Patient Activation Measure (Hibbard, Health Services Research 2005).
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Baslinje och 24 månader efter registrering
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Sjukvårdskostnader
Tidsram: 24 månader efter inskrivningen
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En kombination av administrativa data och mikrokostnadsmetoder kommer att användas för att uppskatta kostnaderna för interventionen och de efterföljande vårdkostnaderna på patientnivå under de 24 månaderna efter inskrivningen.
Uppskattningar av infrastrukturen och personalen som behövs för att utföra interventionen kommer att härledas empiriskt från studien.
Sjukvårdskostnader kommer att abstraheras från fakturerings- och administrativa data.
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24 månader efter inskrivningen
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Läkemedelsvidhäftning
Tidsram: Baslinje och 24 månader efter registrering
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Självrapportering av att ha tagit mediciner enligt ordination utvärderad på baslinje- och studieslutsundersökningar, med hjälp av Voils Medication Adherence Survey med 3 punkter (Voils, Medical Care, 2012).
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Baslinje och 24 månader efter registrering
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Andra resultatmått
Resultatmått |
Åtgärdsbeskrivning |
Tidsram |
|---|---|---|
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Ge kunskap och övertygelser om PRS
Tidsram: 24 månader efter inskrivningen
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Semistrukturerade intervjuer kommer att samla in kvalitativa data om deltagande leverantörers förståelse för och upplevda användbarhet av PRS-riskinformationen.
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24 månader efter inskrivningen
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Blodtryck
Tidsram: Baslinje och 24 månader efter registrering
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De senaste systoliska och diastoliska blodtrycksvärdena registrerade i journalen före eller på inskrivningsdatumet och före eller på datumet 24 månader efter inskrivningen.
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Baslinje och 24 månader efter registrering
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Kroppsmassaindex (BMI)
Tidsram: Baslinje och 24 månader efter registrering
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De senaste BMI-värdena registrerade i journalen före eller på inskrivningsdatumet och före eller på datumet 24 månader efter inskrivningen.
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Baslinje och 24 månader efter registrering
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Aspirin användning
Tidsram: Baslinje och 24 månader efter registrering
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Självrapporterad användning av receptbelagd acetylsalicylsyra eller receptfritt acetylsalicylsyra kommer att bedömas i baslinjen och studiens slutundersökningar.
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Baslinje och 24 månader efter registrering
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Fysisk aktivitet
Tidsram: Baslinje och 24 månader efter registrering.
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Självrapporterade fysiska kommer att bedömas på baslinje- och studieslutsundersökningarna med hjälp av Rapid Assessment of Physical Activity.
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Baslinje och 24 månader efter registrering.
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Alkoholintag
Tidsram: Baslinje och 24 månader efter registrering
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Självrapporterad alkohol kommer att bedömas på baslinje- och studieslutsundersökningarna med hjälp av mått från beteenderiskfaktorövervakningssystemet, registrerat som ett ordinärt Likert-svar med fem punkter (från "Aldrig" till "Mycket ofta").
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Baslinje och 24 månader efter registrering
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Konsumtion av bearbetat kött
Tidsram: Baslinje och 24 månader efter registrering
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Självrapporterat intag av bearbetat kött utvärderat på baslinje- och studiens slutundersökningar med hjälp av en matfrekvensfråga från National Cancer Institute Eating Habits Questionnaire, registrerat som ett ordinärt Likert-svar med fem punkter (från "Aldrig" till "Mycket ofta") .
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Baslinje och 24 månader efter registrering
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Lågdensitetslipoproteinkolesterol (LDL-C)
Tidsram: Baslinje och 24 månader efter registrering
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De senaste LDL-C-värdena registrerade i journalen före eller på inskrivningsdatumet och före eller på datumet 24 månader efter inskrivningen.
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Baslinje och 24 månader efter registrering
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Rökstatus
Tidsram: Baslinje och 24 månader efter registrering
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Självrapporterad rökstatus kommer att bedömas i baslinje- och studiens slutundersökningar med hjälp av mått från Behavioral Risk Factor Surveillance System.
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Baslinje och 24 månader efter registrering
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Riskminskande läkemedelsförskrivningar
Tidsram: 24 månader efter inskrivningen
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Relevanta receptbelagda läkemedelsförändringar under 24-månaders observationsperiod, inklusive blodtryckssänkande läkemedel, kolesterolsänkande läkemedel, antikoagulantia, trombocythämmare, 5-alfa-reduktashämmare, selektiva östrogenreceptormodulatorer, aromatashämmare, som abstraherat från journalgranskning.
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24 månader efter inskrivningen
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Hälsostatus och livskvalitet
Tidsram: Baslinje och 24 månader efter registrering
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Som fastställts av data som samlats in från baslinjeundersökningen (VR-12)
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Baslinje och 24 månader efter registrering
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Samarbetspartners och utredare
Det är här du hittar personer och organisationer som är involverade i denna studie.
Samarbetspartners
Utredare
- Huvudutredare: Jason L. Vassy, MD, MPH, SM, Harvard Medical School (HMS and HSDM)
Publikationer och användbara länkar
Den som ansvarar för att lägga in information om studien tillhandahåller frivilligt dessa publikationer. Dessa kan handla om allt som har med studien att göra.
Allmänna publikationer
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- Knowler WC, Barrett-Connor E, Fowler SE, Hamman RF, Lachin JM, Walker EA, Nathan DM; Diabetes Prevention Program Research Group. Reduction in the incidence of type 2 diabetes with lifestyle intervention or metformin. N Engl J Med. 2002 Feb 7;346(6):393-403. doi: 10.1056/NEJMoa012512.
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- Whelton PK, Carey RM, Aronow WS, Casey DE Jr, Collins KJ, Dennison Himmelfarb C, DePalma SM, Gidding S, Jamerson KA, Jones DW, MacLaughlin EJ, Muntner P, Ovbiagele B, Smith SC Jr, Spencer CC, Stafford RS, Taler SJ, Thomas RJ, Williams KA Sr, Williamson JD, Wright JT Jr. 2017 ACC/AHA/AAPA/ABC/ACPM/AGS/APhA/ASH/ASPC/NMA/PCNA Guideline for the Prevention, Detection, Evaluation, and Management of High Blood Pressure in Adults: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. J Am Coll Cardiol. 2018 May 15;71(19):e127-e248. doi: 10.1016/j.jacc.2017.11.006. Epub 2017 Nov 13. No abstract available. Erratum In: J Am Coll Cardiol. 2018 May 15;71(19):2275-2279.
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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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- 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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Användbara länkar
- 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.
Studieavstämningsdatum
Dessa datum spårar framstegen för inlämningar av studieposter och sammanfattande resultat till ClinicalTrials.gov. Studieposter och rapporterade resultat granskas av National Library of Medicine (NLM) för att säkerställa att de uppfyller specifika kvalitetskontrollstandarder innan de publiceras på den offentliga webbplatsen.
Studera stora datum
Studiestart (Faktisk)
17 juli 2020
Primärt slutförande (Förväntat)
30 september 2025
Avslutad studie (Förväntat)
30 september 2025
Studieregistreringsdatum
Först inskickad
31 mars 2020
Först inskickad som uppfyllde QC-kriterierna
31 mars 2020
Första postat (Faktisk)
2 april 2020
Uppdateringar av studier
Senaste uppdatering publicerad (Faktisk)
3 oktober 2022
Senaste inskickade uppdateringen som uppfyllde QC-kriterierna
29 september 2022
Senast verifierad
1 september 2022
Mer information
Termer relaterade till denna studie
Nyckelord
Ytterligare relevanta MeSH-villkor
- Matsmältningssystemets sjukdomar
- Patologiska processer
- Hjärtsjukdom
- Hjärt-kärlsjukdomar
- Kärlsjukdomar
- Störningar i glukosmetabolism
- Metaboliska sjukdomar
- Arterioskleros
- Arteriella ocklusiva sjukdomar
- Neoplasmer
- Urogenitala neoplasmer
- Neoplasmer efter plats
- Sjukdomar i det endokrina systemet
- Gastrointestinala neoplasmer
- Neoplasmer i matsmältningssystemet
- Gastrointestinala sjukdomar
- Diabetes mellitus
- Genitala neoplasmer, manliga
- Prostatasjukdomar
- Kolonsjukdomar
- Tarmsjukdomar
- Intestinala neoplasmer
- Rektala sjukdomar
- Arytmier, hjärt
- Kranskärlssjukdom
- Myokardischemi
- Kranskärlssjukdom
- Diabetes mellitus, typ 2
- Prostatiska neoplasmer
- Kolorektala neoplasmer
- Förmaksflimmer
Andra studie-ID-nummer
- 0594 (Annat bidrag/finansieringsnummer: Instituto Mexicano del Seguro Social (IMSS))
Plan för individuella deltagardata (IPD)
Planerar du att dela individuella deltagardata (IPD)?
Ja
IPD-planbeskrivning
Vi kommer att dela avidentifierade testdata på individnivå genom ett datalager som är inrymt på en säker VA-server och endast tillgängligt för utomstående utredare med Institutional Review Board (IRB).
Tidsram för IPD-delning
Vid publicering av primära resultat
Kriterier för IPD Sharing Access
Tillgång kommer att vara beroende av IRB-godkännande
IPD-delning som stöder informationstyp
- Studieprotokoll
- Statistisk analysplan (SAP)
- Informerat samtycke (ICF)
Läkemedels- och apparatinformation, studiedokument
Studerar en amerikansk FDA-reglerad läkemedelsprodukt
Nej
Studerar en amerikansk FDA-reglerad produktprodukt
Nej
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