Incorporating genomic data into the EHR: new statement highlights key considerations and areas for optimization

The American College of Medical Genetics and Genomics (ACMG; MD, USA) has released a statement highlighting points to consider concerning the incorporation of growing genomic and genetic testing data into the electronic health record (EHR).

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The American College of Medical Genetics and Genomics (ACMG; MD, USA) has released a statement on the interface between genomic data and the electronic health record (EHR), highlighting points to consider concerning the incorporation of growing genomic and genetic testing data into the latter and how the EHR must evolve and be optimized to help pave the way toward achieving precision medicine.

In recent years, increased utilization of genetic and genomic testing technology has made the availability and use of genomic data in clinical practice more widespread and an essential aspect to achieving precision medicine. However, this has also highlighted the need for EHRs to evolve in tandem with the increased complexity of the available medical data, to ensure optimal care continues to be provided for patients.


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The ACMG’s new statement aims to provide practical guidance, recommendations for EHR optimization and help highlight important considerations concerning the integration of genomic information into EHRs.

Terri Grebe (ACMG) explained: “The [EHR] serves as a powerful interactive tool in improving the healthcare of patients and populations. As an integral component of medical treatment, genomic data in the EHR must therefore be continuously and easily accessible to both patients and providers, while simultaneously receiving appropriate privacy protection, to achieve the goal of personalized medicine.”

Key points of consideration highlighted in the statement include the importance of genetic data in EHRs – including test results, clinicians’ interpretations and re-interpretations if these are later performed – being readily accessible to patients, as well as caution that should be placed on the quality of outside data input by patients from external organizations, such as direct-to-consumer testing companies.

In addition, to allow for care coordination by the multiple organizations that may be providing care to a single patient, the statement encourages further optimization of EHR network interoperability, which could help reduce care costs by, for example, preventing duplicate testing.

To help determine optimal approaches for patient access to and use of genomic information in the EHR, further research is required. Nevertheless, in the statement, the authors conclude: “While direct patient access to the EHR is appropriate and will facilitate patients’ involvement in their own health care, it is not a substitute for face-to-face interaction, which remains the ideal method of communication of potentially life-altering personal health information.”

“These points to consider…are intended to assist providers, institutions, and vendors to develop policies and procedures that optimize the use of the EHR in the delivery of medical care to maximum patient benefit, minimize harm, improve population health, and decrease health care costs.”

Sources:

Grebe TA, Khushf G, Chen M et al. The interface of genomic information with the electronic health record: a points to consider statement of the American College of Medical Genetics and Genomics (ACMG). Genet Med. doi:10.1038/s41436-020-0841-2 (Epub ahead of print) (2020); www.acmg.net/PDFLibrary/Electronic_Health_Record_an_ACMG_Points_to_Consider_Statement.pdf

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