Genomic Information Systems and Electronic Health Records (EHR)

Washington D.C. 30 August 2005 This is a time of great opportunity for organizations in the public and private sector to work together on mutually beneficial ventures to construct an Electronic Health Record (EHR) of the future that will unify clinical record and genomic information systems. It is becoming clear that genomic information will become a standard component of a person's medical record in the coming years. Much of the work being done in this area involves collaboration between public and private sector organizations with a heavy emphasis on standards and "open source" solutions. By integrating computerized patient records with genomic biorepositories, bioinformaticists will be able to begin development of sophisticated applications that will truly transform health care delivery in the 21st century.


General Overview

Genomic technologies and computational advances are leading to an information revolution in biology and medicine. It is likely that the major genetic factors involved in susceptibility to common diseases like diabetes, heart disease, Alzheimer's disease, cancer and mental illness will be uncovered in the course of the next 5 to 7 years. (From "A Brief Primer on Genetic Testing - World Economic Forum" - January 24, 2003; Francis S. Collins, M.D., Ph.D.)

By integrating computerized patient records with genomic biorepositories, bioinformaticists will be able to work on sophisticated applications that will truly transform health care delivery in the 21st century. These applications will use advanced statistical and computational analytic techniques and will combine human genome research with the identification of proteins within chromosomes that cause inherited diseases and predispositions toward diseases that might be triggered by environmental, dietary, and other catalysts. These advances could usher in a new era of individualized preventive medicine.

In this not-so-distant-future, genomic information could routinely become part of a person's medical record. In fact, researchers are currently developing a computer language that allows clinical information to be embedded in DNA sequence. Health care providers could potentially have access to integrated longitudinal health records that include genomic, personal, and clinical information, including online images such as EKGs, magnetic resonance imaging, and cat scans. Empowered with this more comprehensive patient record, health care providers will also have access to powerful clinical decision support tools that assist in evidence-based diagnosis, predictions, and care recommendations. Health care providers will be able to use these planned electronic health record (EHR) systems to determine treatment outcomes and practice effective preventive medicine, in addition to obtaining guidelines on practice management.

Dealing with genomic information is far more challenging than working with other types of clinical information. Expressions of genomic information are much more sophisticated than simple field values contained in lab tests. There are interesting challenges in trying to display complex genomic information within today's electronic health records (EHR). The availability of genomic information may force an entirely new way of looking at the clinical process. To manage and utilize this complex, sophisticated genomic information will most likely require a new EHR system framework that allows genomic information, clinical information, and personal information to coexist in a complex patient record envisioned for the future.

The introduction of genomics into clinical practice combined with new techniques and technologies gives rise to many challenges. This paper attempts to provide a preliminary analysis into the subject of genomic information systems and associated databases and their potential integration within larger, unified electronic health record (EHR) systems of the future.

Biorepositories and Genomic Information Systems

The creation of biorepositories are closely linked with the development of genomic information systems. The availability of human biological specimens for research purposes is crucial for the advancement of medical knowledge and in understanding, diagnosing, and treating diseases that affect the general population. The need for good clinical data, as well as a biological specimen from patients, has become clearly apparent. In the past, this need was not quite so great, and was met by individual researchers who were able to collect a limited number of specimens, along with some clinical data, and use it in their own research, as well as making it available on limited basis to other researchers.

The need for biorepositories has, however, continued to grow. Several institutional level biorepositories have arisen over the past few years. There are governmental ones that have been established in the United States at the National Institutes of Health (NIH), the Centers for Disease Control and Prevention (CDC), and within the Department of Defense (DoD). Several universities have also created such a resource. In industry, there are about a half dozen companies that are attempting to create similar resources. For example, nTouch Research Corporation has a bioreposiorty and genetic sample program, in which properly consented donors from its registry of thousands of patients have provided genetic samples for future research.

Other Major Issues

The challenges of creating an EHR that integrates an organization's clinical record system with a biorepository and a genomic information system involve complex organizational, social, political, and ethical issues that must be resolved. Concerns about patients' safety, rights, informed consent, privacy, and ownership of genetic material require careful attention. These issues are being addressed by both public and private organizations worldwide. Some of them are briefly listed here.

  • Informed consent and information management are important aspects of any genetic test or research study. Because of the often profound impact of genetic testing and the potential uses of genetic information, patients should be adequately counseled about the specifics of that test.
  • Release of information is limited by laws and policies. These restrictions are designed to help an organization make sure patients' rights and welfare are protected at every stage.
  • Non-medical consequences - The public has a fear that genetic testing could be made a condition for access to certain services or facilities, such as insurance or employment.
  • Psychosocial harm - Psychological harm may result from learning genetic information about oneself. Social risks include stigmatization, discrimination, labeling, and possible changes in familial relationships.
  • Intellectual property - Many research scientists believe that science will advance more rapidly if researchers enjoy free access to knowledge. The law of intellectual property rests on an assumption that, without exclusive rights, investment in research and development will not happen.
  • Technical Security - Most population-based registries have developed a wide range of written and implied policies and procedures to assure secure handling and processing of all data collected. Implementing a wide range of effective physical and technical security solutions must be addressed from day one in any development effort.
  • Regulations and Laws - Currently in the United States, no regulations are in place for evaluating the accuracy and reliability of genetic testing. Only a few states have established some regulatory guidelines. No federal legislation has been passed relating to genetic discrimination in individual insurance coverage or to genetic discrimination in the workplace.

Options for Acquiring a Unified Clinical and Genomic Record System

Organizations have the option of using ready-made commercial-off-the-shelf (COTS) products that have been purchased from a commercial vendor, developing custom-made solutions from scratch, or accessing Open Source Software (OSS) solutions. There are advantages of each option. In-house development allows one to address the unique needs of the organization and ensures flexibility and control over how the solution evolves. COTS offers brand name quality and peace of mind, offers assurances of product support from the vendor, but at the same time does not require use of scarce IT staff who may not have the needed expertise. OSS offers access to free or publicly available source code that is maintained by an "open" community of developers. This may provide a more cost-effective long term solution focused on interoperability and a more level playing field with others playing in this same arena.

Findings and Conclusions

Over the next decade, a goal for genomics will be to transform knowledge about the human genome into improvements in clinical practice. For a number of years we have collected information on many of the known genomic information systems initiatives and have been monitoring their progress. Numerous Federal agencies and private clinical research enterprises engaged in developing genomic information systems are embracing collaborative ventures and open source solutions. The role of "open" computing and "open" standards will be to support global collaboration between public and private health care organizations in this arena. Collaborating within this community of genetic researchers, biomedical drug developers and clinicians is essential if substantial progress is to be made over the near term.

The importance of collaborating in knowledge and data sharing in the field of genomic information systems makes the adoption of open source solutions a key direction organizations should take with regards to acquiring a system to meet their needs. Pursuing an open source solution that possibly integrates a "biorepository" with an existing clinical record system will serve to facilitate the provision of clinical data to bio-researchers and serve as a catalyst in the development of an EHR of the future that consists of a unified clinical and genomic record system. The integration of computerized patient records with genomic biorepositories will enable bioinformaticists to develop sophisticated clinical applications that will transform health care delivery in the 21st century.

Recommended Next Steps

Health care organizations need to be more proactive in collaborating with other public and private sector organizations on construction of a unified clinical and genomic record system. It is anticipated that genomic information will routinely become part of a person's medical record in the coming years. Much of the work being done in this area involves collaboration between public and private organizations with a heavy emphasis on standards and "open source" solutions. Organizations should consider taking the following next steps:
  • Health care organizations should consider establishing a council addressing the integration of their clinical record systems with genomic information systems into a unified electronic health record (EHR) of the future.
  • Organizations needs to survey existing genomic and bioinformatics systems for emerging languages, standards, and open source solutions that may be used or adapted to meet their needs.
  • Organizations should consider establishing a pilot project to acquire and/or build the genomic information system that will eventually be incorporated into the EHR.
  • Begin to collaborate further with other organizations on the collection of genomic data that could potentially be shared with to the mutual benefit of everyone involved.
  • Investigate changes in clinical practices and business processes that the organization will need to make in anticipation of using genomic information in the future.

Genome Related Projects and Activities

  • Armed Forces Repository of Specimen Samples for the Identification of Remains (AFRSSIR) -
    The Armed Forces Repository provides reference material for DNA analysis to assist in the remains identification process.
  • BLAST -
    BLAST is a set of Open Source Genomic software applications and databases produced by the National Center for Biotechnology Information (NCBI) and others
  • Disease InfoSearchTM -
    The Genetic Alliance provides the Disease InfoSearchTM tool to assist you in finding specific and quality information about genetic conditions, as quickly as possible.
  • DOE Genomes -
    Genome programs of the U.S. Department of Energy
  • GeneCards Project -
    GeneCards is a database of human genes, their products and their involvement in diseases. It offers concise information about the functions of all human genes that have an approved symbol, as well as selected others.
  • GeneTests -
    Provides current, authoritative information on genetic testing and its use in diagnosis, management, and genetic counseling.
  • Genetic Computer Language/Genomic Messaging System -
    Researchers are developing the Genomic Messaging System (GMS), which is a computer language that allows clinical information to be embedded in the streams of DNA sequence.
  • Genetics Home Reference -
    Genetics Home Reference, the National Library of Medicine's web site for consumer information about genetic conditions and the genes responsible for those conditions.
  • Genetic Modification Clinical Research Information System (GeMCRIS) -
    GeMCRIS is a comprehensive information resource and analytical tool for scientists, research participants, institutional oversight committees, sponsors, federal officials, and others with an interest in human gene transfer research.
  • Genome Hub -
    Web links provide information about the human genome sequence, projects to sequence the genomes of other organisms and additional relevant information for genomic researchers.
  • Human Genome Nomenclature Committee (HGNC) -
    HGNC is a non-profit making body which is jointly funded by the UK Medical Research Council (40 percent) and the US National Institutes of Health.
  • Human Genome Epidemiology Network, or HuGENet -
    Hugenet is a global collaboration of individuals and organizations committed to the assessment of the impact of human genome variation on population health and how genetic information can be used to improve health and prevent disease
  • LocusLink -
    Presents information on official nomenclature, aliases, sequence accessions, phenotypes, EC numbers, MIM numbers, UniGene clusters, homology, map locations, and related web sites.
  • Medical Genetics and Rare Disorders Database -
    The National Human Genome Research Institute and the NIH Office of Rare Diseases jointly produce the Medical Genetics and Rare Disorders database to provide contact information for organizations that focus on genetic testing and gene therapy, inherited disorders, and rare disorders and information on available publications.
  • National Center for Biotechnology Information (NCBI) -
    NCBI's Web site serves an integrated, one-stop, genomic information infrastructure for biomedical researchers from around the world so that they may use these data in their research efforts.
  • Online Mendelian Inheritance in Man -
    OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine.
  • Other Genetic Analysis Software - Links:


Peter Groen is the Director of the Health IT Sharing (HITS) program within the Veterans Health Administration, U.S. Department of Veterans Affairs. He is also an adjunct faculty member at Shepherd University in West Virginia.

Marc Wine is the Coordinator for Intergovernmental Health IT within the Office of Intergovernmental Solutions, U.S. General Services Administration (GSA). He also is a guest lecturer on Medical Informatics at the George Washington University in Washington, D.C.

Joanne Marko is a consultant in the metropolitan D.C. area with over 20 years experience in health care and information systems.

Peter Groen, Marc Wine, Joanne Marko

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