In-Side-Out, Up-Side-Down of Genome Sequencing

Everybody knows Georg Mendel and basics of Mendelian Genetics; one gene is associated with one trait. Simplified, if the green pea is round shape one gene is responsible for that. Irregular shaped green peas have a different version (polymorphism) of the very same gene.

Now that we live in the computer-informatics age those days are over. Gene expression profiling and massive sequencing technologies helped us to discover that one gene defect can result in more than one disease or else one disease can be caused by alterations of multiple genes.

Recently, using these technologies groups of genes are identified as common scapegoats for chronic diseases such as diabetes, cancer and heart disease.

Knowing which gene(s) are involved in a particular disease can potentially open the way for better prevention, management and control of these conditions in the future.

There are two technologies towards the identification of gene and disease relationship. Gene expression profiling and whole genome sequencing. Gene expression profiling takes the snapshot of the cell. A particular disease can be "photographed" at the cellular level using this technology. This picture tells us a lot about the disease.

Whole genome sequencing on the other hand reads the genetic code of the person and tells us all about "our production details". Which genes we have inherited from the mother and which genes from the father ? and are these genes "normal", "mutated", or "somewhere between" ?

Since genome sequencing is so powerful it is a big industry of the very near future. Companies are already offering direct-to-consumer genome sequencing. Cambridge, Mass.-based Knome charges approximately $68,000 for whole-genome sequencing or $25,000 for exome sequencing, and Illumina, in San Diego, charges around $48,000 for whole-genome sequencing. At such prices, whole-genome sequencing remains a luxury item. Both companies expect the cost of sequencing to continue dropping precipitously in the months and years ahead.

Below $1000 the technology will be a universal application.

The ultimate advantage of whole-genome sequencing is that “you don’t ever have to do it again. It is dynamic, anytime a new disease-causing mutation is discovered, you just look at your genome and you can tell immediately” if you have that mutation.

Once you have your genome data, all you have to do is look up on genetic databases at ceratin time interwals.

Should insurance companies, your employer, your significant other know your genomic information (your DNA) ? This is an important question.

Should babies be genome sequenced before birth and discarded if unwanted "characteristics" are discovered ? This is another question.

Not later but sooner we will face with the technology and related questions.

Live and see.