Cancer, Cardiac Disease, Diabetes, Hypercholesterolemia, Kidney Diseases, Neuromuscular Diseases
Conditions
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.
Interventions
None listed
Sponsors
Vanderbilt University Medical Center
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Age
1 Days to 120 Years
Healthy volunteers
Yes
Inclusion criteria
* Age: 1 day old * Vital status: Alive
Exclusion criteria
-None
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| Impact of return of clinically actionable results on patient treatment | Six months post return of results | The network will abstract data from patient electronic health records (EHR) six months after clinically actionable results have been returned to the patients and providers. The Network will determine changes in medication or treatments after return of the sequencing results. Outcome measures on patients receiving both positive and negative results will be analyzed. |
Outcome results
None listed