ACMG offers guidance on incorporating genomic data into electronic health records

June 2, 2020

Advances in genetic and genomic testing technology have not only introduced the utilization of clinical genomic information into virtually every area of medical care, this testing has become an essential tool to achieve the goal of precision medicine.

As genomic data become more complex, so too must the electronic health record (EHR) evolve to provide optimal care for patients, maximizing benefits while minimizing harm. Issues of patient autonomy, access, genetic literacy, privacy and protection, and transferability of data, as well as the appropriate genomic data set, are key in facilitating the incorporation of genomic information into patient care.

In an effort to provide practical guidance and important considerations regarding how genomic information can be incorporated into electronic health records, the American College of Medical Genetics and Genomics (ACMG) has released, “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).”

This new ACMG points to consider document addresses types of genomic information in the EHR, mechanisms of placement, data entry, usage, patient/provider access, results disclosure, portability, and privacy. It highlights patient, family, and societal benefits, discusses areas of concern, identifying where further modifications are needed, and makes recommendations for further optimization. It also highlights unique characteristics of genomic information that require additional attention, as they relate to universal bioethical principles.

The statement concludes that further research is needed to determine the optimal approaches for patient access to and use of genomic information in the EHR, as well as protecting patient privacy and avoiding harm. 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 should be viewed as guidance for the ordering provider, clinical geneticist, laboratory geneticist and genetic counselor, and for institutions and vendors. They are intended to assist providers, institutions and vendors to develop policies and procedures that optimize the use of the EHR in the delivery of healthcare to maximize patient benefit, minimize harm, improve population health and decrease healthcare costs.

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