Electronic Medical Records and Genomics (eMERGE) Phase III
Condition: Cardiac Disease; Cancer; Hypercholesterolemia; Diabetes; Kidney Diseases; Neuromuscular Diseases
MeSH terms: Neuromuscular Diseases; Kidney Diseases; Heart Diseases; Hypercholesterolemia
Study type: Observational

Summary: 
      The Electronic Medical Records and Genomics (eMERGE) Network is in its third phase and during
      this time is enrolling and sequencing 25,000 individuals on a custom sequencing panel of
      clinically relevant, actionable genes. The genetic results will be returned to participants
      and outcomes tracked through the electronic health records.
    

Detailed description: 
      The Electronic Medical Records and Genomics (eMERGE) Network is a National Human Genome
      Research Institute (NHGRI)-funded consortium tasked with developing methods and best
      practices for utilization of the electronic medical record (EMR) as a tool for genomic
      research. Phase III is focused on returning actionable gene variants to patients and
      measuring clinical outcomes. Ultimately, eMERGE hopes its efforts will result in improvements
      in health care, through safer and more effective prescription methodology, augmentation of
      primary and secondary prevention strategies, and enhanced understanding of the biology of
      disease.

      eMERGE is composed of 10 clinical sites [ Childrens Hospital of Pennsylvania (CHOP);
      Cincinnati Children's Medical Center (CCHMC); Columbia University; Geisinger; Kaiser
      Permanente Washington with Washington University and the Fred Hutchinson Cancer Research
      Center; Harvard University; Mayo Clinic; Meharry Medical College; Northwestern University;
      Vanderbilt University Medical center (VUMC)], one non clinical site: Marshfield Clinic, two
      sequencing centers [Baylor college of Medicine; Partners Healthcare with Broad Institute], a
      Coordinating Center (VUMC), and the NHGRI. More information on the eMERGE Network can be
      found at www.gwas.org.

      Each sites' research study is tailored to their specific interests. An eMERGE specific
      sequencing panel was designed and ran on participants covering 109 genes and 1551 Single
      Nucleotide Variants (SNVs), of which 68 genes and 14 SNVs are clinically actionable and are
      being returned to patients.
    

Observational model: Cohort
Time perspective: Prospective
Sampling method: Probability Sample
Study population: 
        Approximately 2500 to 3000 participants are enrolled at each site. Two sites (CCHMC and
        CHOP) are primarily enrolling pediatric patients while the rest focus on adult populations.
        Each site has unique specific aims and due to this cohorts differ slightly at each site.
        After sequencing is complete the data from all sites will be pooled into one large data set
        to allow for cross site analysis.
      
Biospecimen description: 
      Blood samples are drawn from patients after consent in a CLIA certified manner. These samples
      are processed, DNA is extracted and sent to one of two sequencing centers (Baylor College of
      Medicine or Partners Healthcare with Broad Institute). DNA is then sequenced and clinical
      reports along with sequencing results returned to sites.