Genetics Data and Electronic Health Records (EHR): The Case for Integration

Author: Gregg C. Lund, D.O., FAAP

Primary Advisor:

Committee Members: Vikrant G. Deshmukh, MSc (co-author); Joyce A. Mitchell, PhD (co-author)

Masters thesis, The University of Texas School of Health Information Sciences at Houston.


The use of genetic information has the potential of transforming and improving clinical care. Family history and genetic analysis have been shown to improve outcomes in various types of cancers, infectious disease and syndromes with genetic basis. The amount of genetic information available is expected to grow exponentially, and will overwhelm the clinicians’ ability to be cognizant of, understand and use these data. There is a need to standardize the way in which this information is stored, retrieved and presented during routine clinical care as well as in the education & training of future and present clinicians. Toward these goals, an essential set of guidelines include the following:

1) Genetic data need to be electronically stored and integrated with EHR systems.

2) Genetic data stored in the EHR should preserve as much detail as possible.

3) Wherever possible, data must be stored coded using standard controlled vocabularies.

4) Genetic test methods should be documented in a structured, coded manner in the EHR along with results.

5) All significant data including genetic and family history should be consolidated into appropriate 3 recommendations at point of care using integrated clinical decision support systems (CDSS).

6) Genetic test results and CDSS recommendations must be presented in a format to facilitate appropriate understanding of the risk factors that will enable clinicians and patients to make better informed decisions.

Without appropriate informatics infrastructure to support translational research, some of the more recent advances in science and technology are unlikely to affect clinical care and, unfortunately, be confined to the realm of academic research, and without an appropriate impact on clinical care.