Genomic Information, EHR Systems, & Open Source

Introduction

Next generation electronic medical record (EMR) will contain genomic information modules and provide predictive care capabilities supporting the continued movement towards more personalized medicine. Much of the work on genomic information systems being done involves extensive collaboration between public and private sector organizations with a heavy emphasis on standards and 'open source' solutions.

Selected Genomic Information Projects & Related Activities

The following is a selection of major projects and activities related to genomic information systems and biorepositories that you might want to take the time to explore further. Many of these are either public domain or 'open source' solutions.

• Armed Forces Repository of Specimen Samples for the Identification of Remains (AFRSSIR) –  http://www.afmes.mil/index.cfm?pageid=afdil.afrssir.overview
• Disease InfoSearch & Genetic Alliance -  http://www.geneticalliance.org
• DOE Genomics Gateway -  http://www.doegenomes.org
• GeneCards Project -  http://www.genecards.org/index.shtml
• GeneTests -  http://www.geneclinics.org
• Genetics Home Reference -  http://ghr.nlm.nih.gov/ghr/template/Home.vm
• Genetics & Rare Diseases (GARD) –  http://rarediseases.info.nih.gov/
• Human Genome Organization (HUGO) –  http://www.hugo-international.org
• HuGENet & Public Health Genomics -  http://www.cdc.gov/genomics/hugenet/default.htm
• Genetics & Rare Diseases (GARD) –  http://rarediseases.info.nih.gov/
• International HapMap Project -  http://snp.cshl.org
• National Human Genome Research Institute (NHGRI) - http://www.genome.gov
• NCBI Human Genome Project & Resources – http://www.ncbi.nlm.nih.gov/genome/guide/human/
• PCPGM GeneInsight Suite -  http://pcpgm.partners.org/it-solutions/geneinsight
• VA Genomic Information System for Integrative Science (GenISIS) - http://research.maveric.org/genisis.html

* Also see Alphabetic Listing of Other Genetic Analysis Software - http://linkage.rockefeller.edu/soft/list.html

Major Issues

Integrated longitudinal health records that include personal, clinical, and genomic information will provide unprecedented access to details about an individual in a manner that was previously inconceivable. Privacy and security are absolutely crucial when it comes to genomic information. To protect individuals and their genomic information will require everything from new legislation, policies, operating guideline, better access controls, data encryption, system audit tools, informed consent, release of information procedures, training, and more.

Findings & Conclusions

• Over the next decade, one of the goals for R&D staffs working in genomics will be to transform knowledge about the human genome into improvements in clinical practice and patient care.
• Numerous Federal agencies and private clinical research enterprises engaged in developing genomic information systems over the past decade are embracing collaborative ventures and 'open source' solutions.
• Health care organizations need to be more proactive in collaborating with on the construction of the unified clinical and genomic health information systems of the future.
• It is anticipated that genomic information will start to become a standard component of a person's electronic medical record (EMR) in the coming decade.

If you are involved with the development and testing of EMR systems that contain genomic information, please let us know about it. Tell us how its going.