Recruiting

Genomic Medicine

Sponsor:

Boston VA Research Institute, Inc.

Code:

NCT04331535

Conditions

Coronary Artery Disease

Atrial Fibrillation

Type 2 Diabetes

Colorectal Cancer

Breast Cancer

Eligibility Criteria

Sex: All

Age: 50 - 70

Healthy Volunteers: Not accepted

Interventions

Polygenic risk score (PRS)

Study Details

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.

Conditions

Coronary Artery Disease

Atrial Fibrillation

Type 2 Diabetes

Colorectal Cancer

Breast Cancer

Study ID

NCT04331535

Start date

Jul 17, 2020

Status verified date

Sep, 2022

Completion date

Sep 30, 2025

Anticipated

Primary completion date

Sep 30, 2025

Anticipated

Eligibility Criteria

Eligibility Criteria

Sex: All

Age: 50 - 70

Healthy Volunteers: Not accepted

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 Design

Enrollment

1076 participants

Anticipated

Allocation

Randomized

Intervention Model

Parallel Assignment

Primary purpose

Screening

Interventions and Outcome Measures

Arms

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.

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.

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.

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..

Interventions

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.

Primary outcome measure

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

Central Contacts and Locations

Central contacts

Jason L. Vassy, MD, MPH, SM

857-364-2561jvassy@partners.org

Locations

VA Boston Healthcare System

Recruiting

Boston, Massachusetts, United States, 02130-4817

Contacts

Jason L. Vassy, MD, MPH, SM

857-364-2561jvassy@partners.org

More Information

Sponsor

Boston VA Research Institute, Inc.

Last update posted

Oct 3, 2022

Last verified

Sep, 2022

Keywords

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

Trial information was received from ClinicalTrials.gov and was last updated on 2026-09-10. This information was provided to ClinicalTrials.gov by Boston VA Research Institute, Inc. on 2022-10-03.