Return of Genomic Results and Aggregate Penetrance in Population-Based Cohorts
Completed · Not applicable
Conditions studied: Seemingly Healthy, Genetic Predisposition to Disease
In brief
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.
Key facts
- Study ID
- NCT04196374
- Run by
- Brigham and Women's Hospital
- People needed
- 7603
- Starts
- 2021-06-09
- Expected to finish
- 2025-05-30
- Last updated by the study team
- 2026-08-03
Who can join
Age: 18 and older, up to 100. Sex: any. Healthy volunteers: not accepted.
You may qualify if…
- Living individuals enrolled in the Framingham Heart Study and the Jackson Heart Study who have had their genomes sequenced as part of the TOPMed program.
- Adults over the age of 18 years
- Those who have consented to have their DNA samples used for research purposes (and those who participate in gRoR who have consented to receive genomic information).
You may not qualify if…
- Participants of the Framingham Heart Study or Jackson Heart Study who have not had their genomes sequenced as part of TOPMed
- Participants who did not opt for genomic/genetic research
- Participants who did/do not consent to receiving a genomic result (for the gRoR portion of this study only)
Where it is running
- Framingham Heart Study — Framingham, Massachusetts, United States
- Jackson Heart Study — Jackson, Mississippi, United States
Full record on ClinicalTrials.gov
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