Patient Access, Privacy Vital for Integrating Genomic Data in the EHR

Patient access, privacy, and protection are critical in facilitating the integration of genomic data into patient care and the EHR, according to a report from the American College of Medical Genetics and Genomics (ACMG).

Genomic data is becoming an integral part of nearly every area of medical care, the authors noted, meaning this information is increasingly being incorporated into multiple parts of the EHR.

“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,” the authors stated.

“As genomic data become more complex, so too must the EHR evolve to provide optimal care for patients, maximizing benefits while minimizing harm.”

The group pointed out that genomic data integration will largely hinge on continual patient access to test results, secondary findings, and the clinician’s interpretation.

“The exponential growth of genomic information and knowledge may result in the revision of the clinical interpretation of data that in turn affects the patient’s medical care and prognosis,” the authors stated.

“This necessitates that the information in the EHR be modifiable through updated reports to reflect the most current information, and that individuals have the ability to continuously access their information as needed.”

The report also stated that patients should have the ability to receive and transport their genomic data if they are treated outside the ordering facility for continuity of care. This can be accomplished through an EHR network in which systems share and communicate data from multiple institutions.

By being able to access their own genomic information, patients will have a more fulfilling healthcare experience.   

“The availability of patient portals linked to an EHR allows individuals to independently access their personal genomic test results, without contacting the physician’s office. Such direct access allows for more productive face-to-face dialogue during the provider visit, thus improving the patient experience of care,” the authors said.

Data privacy and security should also be top of mind when integrating genomic information in the EHR, the team said.

“Genetic exceptionalism is the supposition that genetic/genomic information is qualitatively different from other types of health information, and thus requires enhanced privacy and security protection when included in the EHR,” the authors wrote.

“However, it is well recognized that the incorporation of a variety of genomic data into an individual’s EHR will ultimately be necessary for the delivery of precision medicine.”

The group said that several features of genomic information require further consideration, including identifiability, immutability of genetic data, impact on family members, changing societal perspectives, and other elements.

Providers will also need to balance the privacy of individuals with the needs of relatives who require their family member’s genetic test results to assess their own disease risks.

“Some institutions now have the ability to link individual electronic medical records among family members within their system. This has the potential for disclosure of genomic results without explicit informed consent, thus changing background assumptions for privacy of genomic information,” the team said.

In addition to these issues, the widespread use of publicly funded genomic databases has raised some potential privacy concerns.

“The capability of identifying a person unequivocally based on a few genetic variants has now been shown in multiple studies, raising concerns for breach of privacy and potential harm to patients,” the authors said.

“The protections afforded by federal and state legislation are unclear as to whether they apply in the setting of re-identification from publicly available data. To date, no examples of this have emerged in the setting of health insurance or employment, so the potential for harm remains hypothetical.”

Providers should keep in mind that they have a duty to not only deliver genomic information to patients, but also protect them from harm.

“The direct and immediate access to genomic test results via an EHR portal by patients and parents supports autonomy but may result in emotional distress due to the discovery of a life-altering genomic condition, misinterpretation of complex or equivocal results, unexpected secondary findings, misattributed parentage, or consanguinity,” the team stated.

“Unintentional disclosure of genomic test results or diagnoses may also occur through access to other providers’ notes, or simply the patient’s health problem list, as coded in the EHR.”

Going forward, more work will be required to integrate genomic information in the EHR and advance precision medicine.

“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,” the authors said.

“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.”