Overview of the PRIMED Consortium: Reducing disparities in polygenic risk assessment

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Co-first authors Drs. Kullo and Nelson will present an introduction and overview of the NIH-funded PRIMED Consortium, which is working to improve polygenic risk prediction of a range of health outcomes across diverse, global populations. The presentation will cover design and rationale, organization and progress of Consortium activities, methodological innovations, and initial Consortium findings and products.

Overview of Presentation

PRIMED is developing new PRS methods with a focus on equitable performance across diverse populations, including those that are admixed

PRIMED is exploring different approaches to incorporate genetic ancestry information into PRS development and evaluation

PRIMED is developing approaches to integrate non-genetic information such as social determinants of health with PRS to create comprehensive risk prediction models

PRIMED is leveraging the AnVIL cloud platform for consortium data sharing and collaborative analysis and is making analysis workflows for PRS methods and related analyses publicly available

The PRIMED common data model supports constructing cross-study datasets with harmonized genotype, phenotype, and genomic summary results data

PRIMED built off of the NASEM report on Population Descriptors in Genetics and Genomics Research to develop recommendations and a data model to support the flexible and ethical use of population descriptors in PRS research

Iftikhar Kullo, MD

Principal Investigator, Atherosclerosis and Lipid Genomics Laboratory

Mayo Clinic

Dr. Iftikhar Kullo is a cardiologist and research scientist in the Department of Cardiovascular Medicine at the Mayo Clinic, Rochester, Minnesota. He heads the Atherosclerosis and Lipid Genomics Laboratory, chairs the Cardiovascular Genomics Task Force, directs the Early Atherosclerosis and Familial Hypercholesterolemia Clinics, and is the Director of the Cardiovascular Genomics Fellowship Training Program at Mayo Clinic Rochester, Minnesota. Dr. Kullo’s work on genomic discovery and implementation, particularly in the area of polygenic risk assessment, has been widely cited. Dr. Kullo is a Principal Investigator in the eMERGE and PRIMED Networks of the NHGRI and serves on the US National Advisory Council on Human Genome Research. Dr. Kullo is deeply interested in reducing disparities and inequity in genomic medicine. He is working with underserved communities to implement genomic medicine programs to improve health in these communities.

Sarah C. Nelson, MPH, PhD

Senior Research Scientist, Genetic Analysis Center

University of Washington

Dr. Sarah Nelson is a senior research scientist at the Genetic Analysis Center in the Department of Biostatistics at the University of Washington (UW), which serves as the Coordinating Center for the PRIMED Consortium. Dr. Nelson received her MPH and PhD from the UW Institute of Public Health Genetics, where she studied the ethical, legal, and social implications of integrating genetics into consumer and clinical contexts. At the PRIMED CC, she manages overall logistics and communications and is a key contributor to Consortium policy, data sharing, and social and ethical implications.