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Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts

NCT04196374 · Status: COMPLETED · Phase: NA · Type: INTERVENTIONAL · Enrollment: 48

Last updated 2025-11-12

No results posted yet for this study

Summary

The PopSeq Project is a prospective cohort study that will develop and implement a genomic return of results (gRoR) process in the Framingham Heart Study (FHS) and Jackson Heart Study (JHS) cohorts and explore associated medical, behavioral, and economic outcomes. The study will interpret the genomic sequences of JHS/FHS participants previously sequenced by TOPMed who have consented to genomic return of results and/or genetic testing. We will develop and apply new methods for scalable screening/ classification of genomic variants and will explore genomic penetrance by phenotyping a subset of participants in the FHS and JHS.

Conditions

  • Seemingly Healthy
  • Genetic Predisposition to Disease

Interventions

GENETIC

Genomic Sequencing

Whole Genome Sequencing and reporting of actionable genomic results for genes included on the ACMG secondary findings list.

Sponsors & Collaborators

  • Framingham Heart Study

    collaborator UNKNOWN

  • Jackson Heart Study

    collaborator UNKNOWN

  • Broad Institute of MIT and Harvard

    collaborator OTHER

  • University of Mississippi Medical Center

    collaborator OTHER

  • Boston University

    collaborator OTHER

  • Partners HealthCare

    collaborator OTHER

  • Brigham and Women's Hospital

    lead OTHER

Study Design

Allocation
NA
Purpose
PREVENTION
Masking
NONE
Model
SINGLE_GROUP

Eligibility

Min Age
18 Years
Max Age
100 Years
Sex
ALL
Healthy Volunteers
No

Timeline & Regulatory

Start
2021-06-09
Primary Completion
2025-05-30
Completion
2025-05-30

Countries

  • United States

Study Locations

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Read the full study record

This page highlights key information. For complete eligibility criteria, study locations, investigator contacts, and the full protocol, visit the original record on ClinicalTrials.gov.

View NCT04196374 on ClinicalTrials.gov