The NIH-funded Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium is developing and evaluating methods to improve the use of polygenic risk scores (PRS) to predict disease and health outcomes in diverse ancestry populations.
Back to topWhat are Polygenic Risk Scores?
Below are links to explanatory articles on PRS, including the science behind them, challenges and opportunities, and ongoing research.
- NHGRI informational resource on polygenic risk scores
- Broad Institute educational tool on polygenic risk scores
- CDC Genomics and Precision Health topic page on polygenic risk scores
- PHG Foundation: Understand polygenic scores and their use in healthcare
Back to top
Videos
Learn more about the work and the people involved in the following videos of PRIMED investigators (indicated with PRIMED Site affiliation below) and other experts in the field.
Tutorials
Hands-on tutorial of using PRS-CSx to perform multi-ancestry PRS analysis
(8:28, on YouTube)
Yunfeng Ruan (FFAIRR-PRS)
Jun 29, 2023: Psychiatric Genomics Consortium (PGC)
Importing PRIMED genotype data to AnVIL, Part 1
(20:30, on Vimeo)
Stephanie Gogarten (Coordinating Center)
Jul 18, 2022: PRIMED Genotype Harmonization working group meeting
Importing PRIMED genotype data to AnVIL, Part 2
(9:37, on Vimeo)
Stephanie Gogarten (Coordinating Center)
Jul 18, 2022: PRIMED Genotype Harmonization working group meeting
Importing PRIMED GSR data to AnVIL, Part 1
(5:30, on Vimeo)
Stephanie Gogarten (Coordinating Center)
Aug 1, 2022: PRIMED Genotype Harmonization working group meeting
Importing PRIMED GSR data to AnVIL, Part 2
(5:00, on Vimeo)
Stephanie Gogarten (Coordinating Center)
Aug 1, 2022: PRIMED Genotype Harmonization working group meeting
Tutorial on writing a WDL workflow
(59:54, on Vimeo)
Stephanie Gogarten (Coordinating Center)
Oct 26, 2023: PRIMED Fall 2023 Meeting
Tutorial on how to run GWAS, PCA and ADMIXTURE workflows
(50:09, on Vimeo)
Stephanie Gogarten (Coordinating Center)
May 3, 2024: PRIMED Spring 2024r Meeting
Harmonizing Data
Cohort Data Harmonization Example 3: PRIMED
(23:06, on YouTube)
Leslie Lange (CAPE)
Jul 13, 2022: CINECA Project, Data Harmonization Workshop
Clinical Implementation
Working Towards Equity in Genomic Medicine: A Clinician-Investigator's Perspective
(57:43, on YouTube)
Iftikhar Kullo (PREVENT)
Nov 7, 2022: National Human Genome Research Institute, Genomics and Health Disparities Lecture Series
PRS for the PCP: Evaluating polygenic risk scoring in primary care with clinical trials
(1:10:16, on YouTube)
Katrina A.B. Goddard (NCI) and Jason L. Vassy (HMS, VA, and Brigham and Women’s Hospital)
Oct 18, 2023: National Human Genome Research Institute, Genomic Innovator Seminar Series
Health Disparities
Global Diversity, Local Context: The Role of Ancestry, Genetics, and Environment on Human Health
(1:03:38, on YouTube)
Genevieve Wojcik, Ph.D., MHS (CAPE)
Jan 11, 2024: Genomics and Health Disparities Lecture Series, NIH
Prioritizing Genetics to Reduce Existing Health Disparities
(1:02:12, on NIH VideCast)
Nancy J. Cox (D-PRISM, EPIC-PRS)
Feb 1, 2024: WALS NIH Director’s Wednesday Afternoon Lecture Series
Ethical and Social Considerations
Polygenic Risk Prediction in Diverse Populations and Contexts: Scientific and Ethical Considerations
(55:36, on ELSIhub)
Malia Fullerton, DPhil (PRIMED Coordinating Center) and Alicia Martin, PhD (FFAIRR-PRS)
Jan 12, 2024: ELSI Friday Forum
This webinar explores the scientific and ethical considerations relevant to the widespread adoption of PRS for clinical care.
Other
Concept Clearance: Polygenic Risk Scores from Populations of Diverse Ancestry RFAs
(1:07:22, on YouTube)
Lucia Hindorff (NHGRI)
Sep 16, 2019 - National Advisory Council for Human Genome Research (Open Session)