The Genomic Medicine at VA Study (GenoVA)

Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care

This trial will determine the clinical effectiveness of polygenic risk score testing among patients at high genetic risk for at least one of six diseases (coronary artery disease, atrial fibrillation, type 2 diabetes mellitus, colorectal cancer, breast cancer, or prostate cancer), measured by time-to-diagnosis of prevalent or incident disease over 24 months.

Study Overview

• Status: Recruiting
• Conditions: Coronary Artery Disease; Breast Cancer; Colorectal Cancer; Atrial Fibrillation; Type 2 Diabetes; Prostate Cancer
• Intervention / Treatment: Diagnostic test: Polygenic risk score (PRS)

Detailed Description

One of the most pressing controversies in genomics today is the clinical utility of polygenic risk scores (PRS). Broadening the scope of genomic risk testing beyond monogenic diseases, PRS combine information from hundreds or even millions of genetic loci, each with a very small effect size on the risk of common complex disease. The result is a continuous quantitative risk factor for susceptibility to conditions such as coronary artery disease (CAD), type 2 diabetes (T2D), and breast cancer. Compared to rarer monogenic disease variants, PRS have greater transformative potential for public health and healthcare in their ability to identify much larger proportions of the population at significantly elevated risk for disease, facilitating evidence-based prevention and management. Moreover, their prediction ability has vastly improved compared to earlier PRS that included only a limited number of genetic variants. However, while the associations between PRS and a wide range of common diseases are well established (clinical validity), the potential impact of this information on patient health outcomes (clinical utility) remains contested and understudied.

This study will examine the effectiveness and implementation outcomes from the use of PRS for 6 common diseases that are screened for by PCPs and have established prevention strategies: CAD, AFib, T2D, colorectal cancer, prostate cancer, and breast cancer. This trial has two aims:

Aim 1: Conduct a randomized controlled trial (RCT) to determine the clinical effectiveness of PRS among patients at high genetic risk for at least one disease, measured by changes in clinical management (process outcomes) and time to diagnosis of prevalent or incident disease (clinical outcome) over 24 months.

Aim 2: Measure high-priority genomic medicine implementation outcomes, including primary care provider (PCP) knowledge and beliefs about PRS, patient activation in healthcare, medication adherence, and costs.

• Study Type: Interventional
• Enrollment (Anticipated): 1076
• Phase: Not Applicable

Contacts and Locations

• Study Contact: Name: Jason L. Vassy, MD, MPH, SM; Phone Number: 857-364-2561; Email: jvassy@partners.org

Study Locations

• United States
  • Massachusetts
    • Boston, Massachusetts, United States, 02130-4817
      • Recruiting
      • VA Boston Healthcare System
      • Contact: Jason L. Vassy, MD, MPH, SM; Phone Number: 857-364-2561; Email: jvassy@partners.org

Participation Criteria

Eligibility Criteria

• Ages Eligible for Study: 50 years to 70 years (Adult, Older Adult)
• Accepts Healthy Volunteers: No
• Genders Eligible for Study: All

Description

Inclusion Criteria:

• Age 50-70 years at enrollment
• No known diagnosis of the following conditions, initially screened by the International Classification of Disease (ICD) codes or other electronic health record (EHR) data using validated methods and then confirmed with potential patient-participants during recruitment: coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer, breast cancer, prostate cancer

Exclusion Criteria:

• Patients will be ineligible if they:

  • Have a known diagnosis of at least one of the six diseases of interest
  • Are younger than age 50 or older than age 70
  • Are pregnant
  • Are incarcerated or institutionalized

Study Plan

How is the study designed?

Design Details

• Primary Purpose: Screening
• Allocation: Randomized
• Interventional Model: Parallel Assignment
• Masking: Single

Number of Arms

4

Arms and Interventions

Participant Group / Arm	Intervention / Treatment
Experimental: Polygenic risk score (PRS) - high risk stratum; Patient-participants in the PRS-high arm and their providers will receive their high-PRS results at baseline, along with educational resources about the results.	Diagnostic test: Polygenic risk score (PRS); Polygenic risk score report from a Clinical Laboratory Improvement Amendment (CLIA)-certified laboratory for coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer, breast cancer (for women only), and prostate cancer (for men only), delivered along with patient- and provider-level educational material.
Active Comparator: Usual care (UC) - high risk stratum; Patient-participants in the UC-high arm and their providers will receive their high-PRS results after a 24-month observation period, along with educational resources about the results.	Diagnostic test: Polygenic risk score (PRS); Polygenic risk score report from a Clinical Laboratory Improvement Amendment (CLIA)-certified laboratory for coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer, breast cancer (for women only), and prostate cancer (for men only), delivered along with patient- and provider-level educational material.
Experimental: Polygenic risk score (PRS) - average risk stratum; Patient-participants in the PRS-average arm and their providers will receive their average-PRS results at baseline, along with educational resources about the results.	Diagnostic test: Polygenic risk score (PRS); Polygenic risk score report from a Clinical Laboratory Improvement Amendment (CLIA)-certified laboratory for coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer, breast cancer (for women only), and prostate cancer (for men only), delivered along with patient- and provider-level educational material.
Active Comparator: Usual care (UC) - average risk stratum; Patient-participants in the UC-average arm and their providers will receive their average-PRS results after a 24-month observation period, along with educational resources about the results..	Diagnostic test: Polygenic risk score (PRS); Polygenic risk score report from a Clinical Laboratory Improvement Amendment (CLIA)-certified laboratory for coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer, breast cancer (for women only), and prostate cancer (for men only), delivered along with patient- and provider-level educational material.

What is the study measuring?

Primary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Time-to-new diagnosis of common complex disease	The primary outcome of the study is time-to-diagnosis both of undiagnosed prevalent cases of the 6 target conditions and incident cases during the study period. This composite outcome will only include clinically significant diagnoses, as adjudicated by expert clinical chart review.	24 months after enrollment

Secondary Outcome Measures

Outcome Measure	Measure Description	Time Frame
Diagnostic testing	Any evidence that the patient-participant underwent additional diagnostic testing for the six target diseases since enrollment: coronary artery disease (stress testing, cardiac CT for coronary artery calcium (CAC), coronary angiography), atrial fibrillation (ECG, heart rhythm monitoring), type 2 diabetes (hemoglobin A1c, blood glucose), colorectal cancer (colonoscopy, sigmoidoscopy, fecal blood testing, CT colonography), breast cancer (mammography, breast MRI, breast ultrasound, breast biopsy), and prostate cancer (PSA testing, prostate biopsy).	24 months after enrollment
Patient activation	Self-reported understanding, competence, and willingness to participate health care decisions and processes assessed on the baseline and end-of-study surveys, using the 13-item short form of the Patient Activation Measure (Hibbard, Health Services Research 2005).	Baseline and 24 months after enrollment
Healthcare costs	A combination of administrative data and microcosting approaches will be used to estimate the costs of the intervention and the subsequent patient-level healthcare costs over the 24 months after enrollment. Estimates of the infrastructure and personnel needed to deliver the intervention will be derived empirically from the study. Healthcare costs will be abstracted from billing and administrative data.	24 months after enrollment
Medication adherence	Self-report of taking medications as prescribed assessed on the baseline and end-of-study surveys, using the 3-item Voils Medication Adherence Survey (Voils, Medical Care, 2012).	Baseline and 24 months after enrollment

Other Outcome Measures

Outcome Measure	Measure Description	Time Frame
Provider knowledge and beliefs about PRS	Semi-structured interviews will collect qualitative data on participating providers' understanding of and perceived utility of the PRS risk information.	24 months after enrollment
Blood pressure	The most recent systolic and diastolic blood pressure values recorded in the medical record prior to or on the date of enrollment and prior to or on the date 24 months after enrollment.	Baseline and 24 months after enrollment
Body-mass index (BMI)	The most recent BMI values recorded in the medical record prior to or on the date of enrollment and prior to or on the date 24 months after enrollment.	Baseline and 24 months after enrollment
Aspirin use	Self-reported use of prescription or over-the-counter aspirin will be assessed on the baseline and end-of-study surveys.	Baseline and 24 months after enrollment
Physical activity	Self-reported physical will be assessed on the baseline and end-of-study surveys using the Rapid Assessment of Physical Activity.	Baseline and 24 months after enrollment.
Alcohol intake	Self-reported alcohol will be assessed on the baseline and end-of-study surveys using measures from the Behavioral Risk Factor Surveillance System, recorded as an ordinal 5-item Likert response (from "Never" to "Very often").	Baseline and 24 months after enrollment
Processed meat consumption	Self-reported processed meat intake assessed on the baseline and end-of-study surveys using a food frequency question from National Cancer Institute Eating Habits Questionnaire, recorded as an ordinal 5-item Likert response (from "Never" to "Very often").	Baseline and 24 months after enrollment
Low-density lipoprotein cholesterol (LDL-C)	The most recent LDL-C values recorded in the medical record prior to or on the date of enrollment and prior to or on the date 24 months after enrollment.	Baseline and 24 months after enrollment
Smoking status	Self-reported smoking status will be assessed on the baseline and end-of-study surveys using measures from the Behavioral Risk Factor Surveillance System.	Baseline and 24 months after enrollment
Risk-reducing medication prescriptions	Relevant prescription medication changes during 24-month observation period, including antihypertensives, cholesterol-lowering medications, anticoagulants, antiplatelet medications, 5-alpha reductase inhibitors, selective estrogen receptor modulators, aromatase inhibitors, as abstracted from medical record review.	24 months after enrollment
Health status and quality of life	As determined by data collected from the baseline survey (VR-12)	Baseline and 24 months after enrollment

Collaborators and Investigators

• Sponsor: Boston VA Research Institute, Inc.
• Collaborators: VA Boston Healthcare System
• Investigators: Principal Investigator: Jason L. Vassy, MD, MPH, SM, Harvard Medical School (HMS and HSDM)

Publications and helpful links

General Publications

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Helpful Links

• 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.

Study record dates

Study Major Dates

• Study Start (Actual): July 17, 2020
• Primary Completion (Anticipated): September 30, 2025
• Study Completion (Anticipated): September 30, 2025

Study Registration Dates

• First Submitted: March 31, 2020
• First Submitted That Met QC Criteria: March 31, 2020
• First Posted (Actual): April 2, 2020

Study Record Updates

• Last Update Posted (Actual): October 3, 2022
• Last Update Submitted That Met QC Criteria: September 29, 2022
• Last Verified: September 1, 2022

More Information

Terms related to this study

• Keywords: Coronary artery disease; Atrial fibrillation; Colorectal cancer; Type 2 diabetes; Breast cancer; Prostate cancer; Polygenic risk score
• Additional Relevant MeSH Terms: Digestive System Diseases; Pathologic Processes; Heart Diseases; Cardiovascular Diseases; Vascular Diseases; Glucose Metabolism Disorders; Metabolic Diseases; Arteriosclerosis; Arterial Occlusive Diseases; Neoplasms; Urogenital Neoplasms; Neoplasms by Site; Endocrine System Diseases; Gastrointestinal Neoplasms; Digestive System Neoplasms; Gastrointestinal Diseases; Diabetes Mellitus; Genital Neoplasms, Male; Prostatic Diseases; Colonic Diseases; Intestinal Diseases; Intestinal Neoplasms; Rectal Diseases; Arrhythmias, Cardiac; Coronary Artery Disease; Myocardial Ischemia; Coronary Disease; Diabetes Mellitus, Type 2; Prostatic Neoplasms; Colorectal Neoplasms; Atrial Fibrillation
• Other Study ID Numbers: 0594 (Other Grant/Funding Number: Instituto Mexicano del Seguro Social (IMSS))

Plan for Individual participant data (IPD)

• Plan to Share Individual Participant Data (IPD)?: Yes
• IPD Plan Description: We will share de-identified individual-level trial data through a data repository housed on a secure VA server and accessible only to outside investigators with Institutional Review Board (IRB).
• IPD Sharing Time Frame: Upon publication of primary results
• IPD Sharing Access Criteria: Access will be contingent on IRB approval
• IPD Sharing Supporting Information Type: Study Protocol; Statistical Analysis Plan (SAP); Informed Consent Form (ICF)

Drug and device information, study documents

• Studies a U.S. FDA-regulated drug product: No
• Studies a U.S. FDA-regulated device product: No