Incorporating Genomic Data into the Electronic Health Record for Cardiovascular Health and Research

This science advisory from the American Heart Association (AHA) is timely.¹ Recent advances in genetics and genomics have furthered our understanding of cardiovascular health and disease but they have not made a significant impact on the care of patients.^2-4 Similarly, electronic health records (EHRs) are now commonly found in clinical settings¹ but are often not being used to their full potential to improve patient outcomes. Combining genomics and EHR data could facilitate research and contribute to improved patient outcomes; this science advisory outlines possible ways to successfully do so.¹ The potential impact of combining genomic data into the EHR includes providing important clues behind the mechanism of disease, possible treatments, and risk identification.^1,3 This document includes historical information regarding cardiovascular genomic research; the importance and feasibility of including genomic information in the EHR; challenges in incorporating genomic data in the HER, and ways to address those challenges; and, finally, how to implement changes in the EHR to include genomic information for researchers and clinicians,¹ no small task.

Historical Perspective

The historical perspective is presented very well. Researchers on most of the early studies had to combine DNA from samples in biorespositories with clinical data found in either paper medical records or study records. However, we now have the ability to link biobanks and EHRs, thus linking genomic and phenotypic data and resulting in faster and less expensive formation of large datasets than in previous years. Emerging methods for genetic and genomic research include whole exome sequencing, epigenetics, proteomics, and metabolomics.^2-5

Patient Perspective

Research shows that the majority of patients are willing to participate in genomic research and support the use of clinical data in large studies.¹ However, it is important to inform potential research participants that they might not receive benefit from the research themselves. There are also potential confidentiality issues that must be addressed during genomic research and use of EHRs. Informed consent and waiver of consent are two ways to approach the collection of data for biorepositories; both are discussed in this science advisory with a table presenting key features of both approaches.¹

Clinician Perspective

Some genetic variants have already reached clinical utility and have even found their way into the EHR.¹ Clinicians are becoming increasingly faced with the challenge of incorporating genomic testing into clinical decision making.⁴ Several clinical guidelines are available to assist clinicians in this effort, and these are discussed in this advisory.¹ It is very important that clinicians are educated regarding genetics and genomics or there will be significant gaps between care received from clinicians who are knowledgeable and those who are not. A scientific statement entitled “Basic Concepts and Potential Applications of Genetics and Genomics for Cardiovascular and Stroke Clinicians: A Scientific Statement from the American Heart Association” can serve as a valuable resource for clinicians.⁴ Genomic results must be presented in an easy to understand format for clinicians and patients. Possible report types include the traditional laboratory report, embedded clinical decision-making support, and advanced reporting external to the EHR. Each format has its own pros and cons and these are discussed in this science advisory.¹

Cardiovascular disease is preventable but does have a heritable component and lends itself to genetic/genomic study to identify risk and improve outcomes.⁶ In fact, single-nucleotide polymorphisms have been identified for complex diseases such as cardiovascular disease, and loci have been identified for several phenotypes including myocardial infarction, hypertension, hyperlipidemia, and diabetes mellitus just to name a few. These may be used to predict risk of disease, but the reality of applying this information in the clinical setting has fallen short of its potential. The combination of genetic/genomic data and the EHR could be an important way to facilitate that process.

Researcher Perspective

EHRs include structured (eg, laboratory results and billing codes), narrative data, and scanned items such as images. Structured and narrative data can be used to create structured datasets, but scanned data are less amenable to being searched for content. The inclusion of clinical documentation containing more structured data elements is needed to facilitate research, and improvements are being made in that area. Standard phenotype definitions are also needed to be able to compare results across studies.

Computational burden and the balance of data security versus accessibility are limitations of adding genomics to the EHR.¹ Genomic datasets can be very large, even more than 1 terabyte for a small number of participants. Several approaches in combining genomic data with EHR data are presented by Hall et al.¹ First, genomic data can be stored along with the EHR, and this would allow the use of data for clinicians and researchers for collaboration and enhancement of clinical care. Alternatives include keeping genomic and the EHR separate and bringing them together for specific analyses or keeping the two separate and creating a devoted repository to be directed at specific projects as needed. One important point the authors make is that engaging and educating all stakeholders including community members in biorepository processes are crucial for the success of the integration of genomic data and EHRs.¹

In conclusion, this is a timely piece in this dawning era of cardiovascular genomic research and electronic records. It is unique in that it includes perspectives of multiple stakeholders including patients, clinicians, and researchers. This science advisory outlines benefits and barriers to incorporating genetic/genomic data into the EHR with specific methods and considerations outlined. The future of cardiovascular genomic research looks promising indeed