News & Info Sources on Genomic Information & EHR Systems

It's great to see this emerge as one of the first major innovative initiatives to increase fundtionality of OSEHRA/VistA to carry it forward into the coming decades. I'd like to make sure we have a blog where we post key news items and information web sites on 'open source' genomic information & EHR systems. Thus this blog.


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.

According to the journal, Nature Reviews Genetics (NRG), researchers from the McLaughlin-Rotman Centre for Global Health (MRC) in Toronto claim Mexico, India, Thailand and South Africa are blazing the way for other countries around the world. They report that those four countries are actively establishing domestic capacity in genomics and personalized medicine - efforts that will ultimately improve national health, slash medical costs through better resource allocation, and bolster their economies. See

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.

* Also see Alphabetic Listing of Other Genetic Analysis Software -

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.

* Check out these recent news items on genomic information systems on Open Health News -





News & Info Sources on Genomic Information & EHR Systems

Gerald Higgins's picture


Thank-you so much for the list of resources. Maybe we should include it in the wiki that we are developing? Let me know what you think.

I work with the HL7 Clinical Genomics group, specifying formats for Electronic Health Records (EHRs) that include results of CDS for psychiatric disorders such as PTSD and depression. These include genotype data, algorthims that combine genotype and clinical data, polymorphisms (including SNPs, Copy Number Variants (CNVs), Indels (Insertions/Deletions), translocations, and other structural variants), and the results of whole genome analysis. The FDA wants raw sequence data to be accessible by the genome-enabled EHR as well.

I was going to provide a post these file format and other requirements if that makes sense.

Thank-you for the great resource list.