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ACMG Offers Guidance on Incorporating Genomic Data into Electronic Health Records

NEW YORK – Genomic information needs to be incorporated into electronic health record systems with care, especially as that data increases in complexity, according to a new statement from the American College of Medical Genetics and Genomics.

 Electronic health record systems (EHRs) have enabled physicians to more easily share patient data with each other to facilitate care as well as with patients themselves through patient portals. As genomic data increasingly informs patient care, it also needs to be incorporated in EHRs. In a statement appearing today in Genetics in Medicine, the ACMG provided guidelines for how genomic data should be stored and accessed through EHRs. 

"The electronic health record serves as a powerful interactive tool in improving the healthcare of patients and populations," first author Terri Grebe, the chair of ACMG's Social, Ethical, and Legal Issues Committee, said in a statement. "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."

Genomic data can take many forms and range from diagnostic testing via chromosomal microarray analysis, multi-gene panels, or sequencing to clinicians' notes interpreting that genomic data. According to these ACMG guidelines, genetic data — including test results, secondary findings, and clinicians' interpretations — should be readily available to patients through EHRs.

In addition, any changes in the interpretation of patients' genetic testing results should also be included and be date- and time-stamped to show it supersedes other reports and appear alongside clinicians' notes describing how revised findings may affect patients' diagnoses or treatments. 

Other genomic data, such as information patients have received from direct-to-consumer genetic testing companies, should also be included in the EHR but placed in a separate section or flagged so that caution is taken when those results are contemplated.

Patients have a right to their healthcare data, which Grebe and her colleagues noted is facilitated in part by secure patient portals. Patients then may see their genomic testing results without contacting clinicians' offices, and while some studies suggest this may improve patient engagement and adherence to care, it could also lead to distress among some patients. They cautioned EHRs should not be a replacement for face-to-face interactions.

As some patient genomic data may be particularly sensitive — such as results revealing consanguinity, misattributed parentage, or presymptomatic results — care should be taken to avoid inadvertent disclosure, such as placing this information in a separate section marked as confidential, the guidance suggested.

There is still room for improvement of EHRs, it added. In its guidance, ACMG encourages the further development of EHR networks. Patients should also be able to transport their genomic data from one provider system to another, should they wish treatment outside the original healthcare facility. While EHR networks that allow this are present in some parts of the country, they noted there is a lack of standards for transferring genetic information, which can make sharing difficult beyond the use of scanned documents.

Still, the guidance noted that some patients face roadblocks to accessing genetic information through EHRs such as limited internet access, genetic illiteracy, and language or cultural barriers, all of which it said are points to be considered in using EHRs.

These guidelines "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 healthcare costs," the ACMG ELSI committee wrote in its paper.

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