Clinical trial NCT03394859: Electronic Medical Records and Genomics (eMERGE) Phase III
Official title: Electronic Medical Records and Genomics (eMERGE) Phase III
Study type: OBSERVATIONAL
Overall status: COMPLETED
Conditions: Cardiac Disease
Cancer
Hypercholesterolemia
Diabetes
Kidney Diseases
Neuromuscular Diseases
Lead sponsor: Vanderbilt University Medical Center
Sponsor class: OTHER
First posted: 2018-01-09
Enrollment: 25380
Sex: ALL
Minimum age (years): 1
Maximum age (years): 120
Standard ages: CHILD
ADULT
OLDER_ADULT
Accepts healthy volunteers: yes
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.

Brief 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.

Eligibility criteria: Inclusion Criteria:

* Age: 1 day old
* Vital status: Alive

Exclusion Criteria:

-None

Primary outcomes:
measure: Impact of return of clinically actionable results on patient treatment
timeFrame: Six months post return of results
Secondary outcomes:
Other outcomes:
Locations:
Study officials:
affiliation: National Human Genome Research Institute (NHGRI)
name: Teri Manolio, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Children's Hospital Medical Center, Cincinnati
name: John Harley, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Children's Hospital of Philadelphia
name: Hakon Hakonarson, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Columbia University
name: Chunhua Weng, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Geisinger Clinic
name: Marc Williams, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Harvard University
name: Elizabeth Karlson, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Marshfield Clinic
name: Scott Hebbring, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Mayo Clinic
name: Iftikhar Kullo, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Meharry Medical College
name: Samuel Adunyah, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Northwestern University
name: Rex Chisholm, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Kaiser Permanente Washington with the University of Washington and the Fred Hutchinson Cancer Research Center
name: Gail Jarvik, MD, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Vanderbilt University Medical Center
name: Dan Roden, MD
role: PRINCIPAL_INVESTIGATOR
affiliation: Partners Healthcare with Broad Institute
name: Heidi Rehm, PhD
role: PRINCIPAL_INVESTIGATOR
affiliation: Baylor College Medicine
name: Richard Gibbs, PhD
role: PRINCIPAL_INVESTIGATOR
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