Real-world integration of genomic data into the HER
From a very basic technical perspective the genome is an organism's complete set of DNA including all of its genes; 'genomic data' is a broad term referring to sequenced DNA that can be in the form of raw data derived from sequencing. Technologies in genomic medicine have rapidly evolved and transformed the ability to deliver precision medicine in nearly every field of health care. As genomic medicine has advanced, the electronic health record (EHR) has simultaneously been adopted into routine practice.
In order to integrate genomic information into EHRs, the health IT systems must amplify patient autonomy, access, genetic literacy, and privacy and protection. EHRs must also have the ability to successfully transfer data, and assign data sets. Integrating genomic data into EHRs can boost clinical diagnosis, precision medicine, and the treatment of genetic disorders. It can also help improve clinical practices, conduct genetic research, educate clinicians on genetics, and save both time and costs. However, research revealed one of the most significant potential benefits of genomic data integration is linking its results to clinical decision support (CDS) systems.
In the past, there have been differing viewpoints of why EHRs may not be adequate for precision medicine and genomic research, and it mostly circled around the lack of interoperability. Providers should keep in mind that they have a duty to not only deliver genomic information to patients, but also protect them from harm. Data privacy and security should also be top of mind when integrating genomic information in the EHR. Further research is necessary to protect patient privacy. Although patients need to have direct access to EHRs, face-to-face interaction should remain the first communication option when talking about patient health information. Targeted testing for family members resulting in lowered costs and quick diagnosis should be available once EHRs are further evolved to retrieve genomic information.
Real-world integration of genomic data into the electronic health record: the PennChart Genomics Initiative
