Integrating Genomics Information Standard
Wasun Chantratita, Ph.D.
The sequencing of the equivalent of an entire human genome for $1
,000 has been announced as a goal for the genetics community, and new technologies suggest that reaching this goal is a matter of a year from now, rather than if.
So what would we really do? The answer is simple; it is going to have a great benefit toward biomedical research and drug development. More importantly, a 'thousand-dollar genome' could become an important tool to realize personalized medicine: perfectly tailoring diagnostics and treatments to a patient's genetic make-up.
People would sequence themselves, their families. The Generic Genome Browser, the combination of database, interactive Web page, and plug-ins for manipulating and displaying annotations on genomes is becoming more standardized and will be in great demand.
For the end user, features of the browser include the ability to scroll and zoom through regions of a genome, to enter a region of the genome by searching for a landmark or performing a full text search of all features, and the ability to enable and disable tracks and change their relative order and appearance. The user can upload private annotations to view them in the context of the public ones, and publish those annotations to the community.
Another crucial step is the development of standards to enable the exchange of interrelated clinical and personalized genomic data between interested parties. In many cases the exchange of genomic data is done among these organizations (e.g., healthcare providers, genetic labs, research facilities, etc.) and acceptable standards are crucial for the usefulness of genomic data in healthcare practice.
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