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Fig. 1 | Genome Medicine

Fig. 1

From: Whole-genome sequencing as an investigational device for return of hereditary disease risk and pharmacogenomic results as part of the All of Us Research Program

Fig. 1

Overview of All of Us Research Program return of genomic results workflow. Participants are enrolled at a variety of locations including mobile sites, hospitals, and walk-in clinics. Samples are sent to the Biobank (Mayo Clinic) where DNA is extracted and stored. Upon indication from the program to proceed, samples are sent to one of three Genome Centers—Baylor College of Medicine (BCM), Broad Institute (BI), or University of Washington (UW)—for whole-genome sequencing. For participants who have consented to return of genomic results, data are forwarded on to the Clinical Validation Laboratories (CVLs) for pharmacogenomics (PGx) analysis and variant interpretation and orthogonal confirmation for Hereditary Disease Risk (HDR) gene pathogenic or likely pathogenic variants. Reports are generated by the Report and Harmonization Platform (Color) and delivered to participants through the Genetic Counseling Resource (Color). QC quality control

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