The Genomic Medicine at VA Study (GenoVA)

• ClinicalTrials.gov Identifier: NCT04331535
• Recruitment Status: Recruiting
• First Posted: April 2, 2020
• Last Update Posted: October 3, 2022
• Sponsor: Boston VA Research Institute, Inc.
• Collaborator: VA Boston Healthcare System
• Information provided by (Responsible Party): Jason Vassy, Harvard Medical School (HMS and HSDM)

Study Description

Brief Summary:

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.

Condition or disease	Intervention/treatment	Phase
Coronary Artery Disease; Atrial Fibrillation; Type 2 Diabetes; Colorectal Cancer; Breast Cancer; Prostate Cancer	Diagnostic Test: Polygenic risk score (PRS)	Not Applicable

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 Design

• Study Type: Interventional (Clinical Trial)
• Estimated Enrollment: 1076 participants
• Allocation: Randomized
• Intervention Model: Parallel Assignment
• Intervention Model Description: Randomized clinical trial comparing polygenic risk score (PRS) testing and reporting to delayed reporting
• Masking: Single (Outcomes Assessor)
• Masking Description: Participants are randomized to have them and their primary care providers receive their PRS results at baseline (PRS) or after 24 months (usual care, UC). Randomization is stratified by PRS results: A high-risk stratum consists of all participants with at least one PRS indicating high risk, while the remaining participants comprise the average-risk stratum. Participants who do not receive their results at baseline are blinded to whether they have all average-risk PRS results or any high-risk PRS results. Outcomes assessors and data analysts will be blinded to randomization and PRS results status.
• Primary Purpose: Screening
• Official Title: Pragmatic Randomized Trial of Polygenic Risk Scoring for Common Diseases in Primary Care
• Actual Study Start Date: July 17, 2020
• Estimated Primary Completion Date: September 30, 2025
• Estimated Study Completion Date: September 30, 2025

Arms and Interventions

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.

Outcome Measures

Primary Outcome Measures :

1. Time-to-new diagnosis of common complex disease [ Time Frame: 24 months after enrollment ]
   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.

Secondary Outcome Measures :

1. Diagnostic testing [ Time Frame: 24 months after enrollment ]
   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).
2. Patient activation [ Time Frame: Baseline and 24 months after enrollment ]
   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).
3. Healthcare costs [ Time Frame: 24 months after enrollment ]
   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.
4. Medication adherence [ Time Frame: Baseline and 24 months after enrollment ]
   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).

Other Outcome Measures:

1. Provider knowledge and beliefs about PRS [ Time Frame: 24 months after enrollment ]
   Semi-structured interviews will collect qualitative data on participating providers' understanding of and perceived utility of the PRS risk information.
2. Blood pressure [ Time Frame: Baseline and 24 months after enrollment ]
   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.
3. Body-mass index (BMI) [ Time Frame: Baseline and 24 months after enrollment ]
   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.
4. Aspirin use [ Time Frame: Baseline and 24 months after enrollment ]
   Self-reported use of prescription or over-the-counter aspirin will be assessed on the baseline and end-of-study surveys.
5. Physical activity [ Time Frame: Baseline and 24 months after enrollment. ]
   Self-reported physical will be assessed on the baseline and end-of-study surveys using the Rapid Assessment of Physical Activity.
6. Alcohol intake [ Time Frame: Baseline and 24 months after enrollment ]
   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").
7. Processed meat consumption [ Time Frame: Baseline and 24 months after enrollment ]
   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").
8. Low-density lipoprotein cholesterol (LDL-C) [ Time Frame: Baseline and 24 months after enrollment ]
   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.
9. Smoking status [ Time Frame: Baseline and 24 months after enrollment ]
   Self-reported smoking status will be assessed on the baseline and end-of-study surveys using measures from the Behavioral Risk Factor Surveillance System.
10. Risk-reducing medication prescriptions [ Time Frame: 24 months after enrollment ]
    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.
11. Health status and quality of life [ Time Frame: Baseline and 24 months after enrollment ]
    As determined by data collected from the baseline survey (VR-12)

Eligibility Criteria

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

Criteria

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

Contacts and Locations

Contacts

Contact: Jason L. Vassy, MD, MPH, SM; 857-364-2561; jvassy@partners.org

Locations

United States, Massachusetts

VA Boston Healthcare System; Recruiting

Boston, Massachusetts, United States, 02130-4817

Contact: Jason L. Vassy, MD, MPH, SM 857-364-2561 jvassy@partners.org

Sponsors and Collaborators

Boston VA Research Institute, Inc.

VA Boston Healthcare System

Investigators

• Principal Investigator: Jason L. Vassy, MD, MPH, SM; Harvard Medical School (HMS and HSDM)

  Study Documents (Full-Text)

Documents provided by Jason Vassy, Harvard Medical School (HMS and HSDM):

Informed Consent Form  [PDF] July 25, 2022

More Information

Additional Information:

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. 

Publications:

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• Responsible Party: Jason Vassy, Principal Investigator, Harvard Medical School (HMS and HSDM)
• ClinicalTrials.gov Identifier: NCT04331535
• Other Study ID Numbers: 0594
• First Posted: April 2, 2020
• Last Update Posted: October 3, 2022
• Last Verified: September 2022

Individual Participant Data (IPD) Sharing Statement:

• Plan to Share IPD: Yes
• 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).
• Supporting Materials: Study Protocol; Statistical Analysis Plan (SAP); Informed Consent Form (ICF)
• Time Frame: Upon publication of primary results
• Access Criteria: Access will be contingent on IRB approval

• Studies a U.S. FDA-regulated Drug Product: No
• Studies a U.S. FDA-regulated Device Product: No

Keywords provided by Jason Vassy, Harvard Medical School (HMS and HSDM):

Polygenic risk score; Coronary artery disease; Atrial fibrillation; Type 2 diabetes; Colorectal cancer; Breast cancer; Prostate cancer

Additional relevant MeSH terms:

Prostatic Neoplasms; Colorectal Neoplasms; Atrial Fibrillation; Coronary Artery Disease; Myocardial Ischemia; Coronary Disease; Diabetes Mellitus, Type 2; Neoplasms by Site; Neoplasms; Genital Neoplasms, Male; Urogenital Neoplasms; Genital Diseases, Male; Genital Diseases; Urogenital Diseases; Prostatic Diseases; Male Urogenital Diseases; Diabetes Mellitus; Glucose Metabolism Disorders; Metabolic Diseases; Endocrine System Diseases; Intestinal Neoplasms; Gastrointestinal Neoplasms; Digestive System Neoplasms; Digestive System Diseases; Gastrointestinal Diseases; Colonic Diseases; Intestinal Diseases; Rectal Diseases; Arrhythmias, Cardiac; Heart Diseases