Return of Results in the Genomic Medicine Projects of the eMERGE Network

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This is a summary review of the article titled "Return of Results in the Genomic Medicine Projects of the eMERGE Network" by Kullo et al. that was published online by Frontiers in Genetics on March 26, 2014.


The eMERGE network refers to the electronic Medical Records and Genomics network. It was founded in 2007, initially including five sites (hospitals/health systems) with later expansions to include more. The network’s purposes include furthering genomic discovery using biorepositories linked to the electronic health records (EHR) and investigating ways to incorporate genomic findings into the clinical setting via EHR for use of healthcare providers at the point of care and for patient information. A number of genomic medicine pilot studies have been conducted within the eMERGE network, and many of the findings have been integrated with the EHR. The article describes the current best practices as well as the challenges associated with the study findings and the EHR integration work.

Summary Review of the Genomic Study Findings and Their EHR Integration

A return of results working group within the eMERGE network reviewed what research findings should be considered for return to participants and agreed that clinical relevant genomic results should be returned to participants and their health care providers. In addition, pharmacogenomic information, which influences adverse drug reactions, is being returned.

Below is a summary of the types of study findings being returned along with some examples.

Results of individual or multiplexed SNPs (single-nucleotide polymorphism) that affect disease susceptibility or drug responses are being returned. For example, a variant of a gene (APOL1) associated with non-diabetic chronic kidney disease (CKD) is returned.

Pharmacogenetic variants that influence treatment response and can affect medication choice are being returned. For example, certain variants of the gene CYP2D6 that affect pediatric patients in the content of codeine response are returned.

Genetic risk scores for common “complex” disorders are being returned. For example, the generic risk score for coronary heart disease and the abdominal aortic aneurysm will be returned.

The study findings are typically deposited in the EHR and accessible by physicians. Most patients will be able to access their results via an online patient web-portal.

Various CDS (clinical decision support) processes and tools are being developed and implemented. Below are some of the current best practices:

Electronic order sets are developed to screen patients who are at risk of certain diseases;

Genotype-guided therapy is incorporated into the standard treatment plan for some chronic diseases;

Pharmacogenetic results are tied to CPOE to prevent potentially life-threatening adverse drug events;

Preventive health care reminder is placed in the EHR for patients with certain genetic risks.

In addition, the eMERGE pharmacogenomics (PGx) project is conducting sequencing of 84 targeted pharmacogenes and will be returning results on known pathogenic variants. The results will be placed pre-emptively in the EHRs for those patients “at risk” of receiving drugs that may cause adverse drug events.


The pilot studies described in the article show some real benefits in integrating genomic findings with the EHR. While a number of challenges remain to be addressed, such as how to create standardized terminology for genetic variants, how to provide uniform provision of genomic CDS design to prevent worsening of disparities in healthcare, and how to manage incidental findings and privacy, there is great promise that the integration of genomic information with the EHR will play an important role in furthering genomic medicine and improving quality of care and patient outcome.



Submitted by Fuping Li