Personalized Medicine

Folks who read my blog know that I am a strong believer in personal health records and personalized medicine. What is personalized medicine?

It's a lifetime transportable medical record that follows the patient everywhere to ensure they receive the safest and most effective care based on their history.

Additionally, personalized medicine is coordination of care among providers, payers, pharmacies and labs, respecting patient privacy preferences .

However, the most personalized medicine will occur when each of us has a transportable version of our fully sequenced genomes available to optimize care for the diseases we are likely to develop. The following is a description of my experience to date.

In 2007, I contributed blood, skin, and oral mucosa cells to the Personal Genome Project. Perpetual cell lines of my white blood cells were created to serve as a source of my DNA for analysis. By February 2008, project will fully sequence the 1% of my genome that is uniquely me, about 60 million base pairs.

As a first, step, my DNA was analyzed using Affymetrix technology to hybridize my genes to 12 million probes, identifying Single Nucleotide Polymorphisms and relating them to probabilities of disease through Genome Wide Association Studies . For those with a genetics background, my entire 20 megabyte SNP mapping is here and here

An analysis based on the Welcome Trust Genome Wide Association Study (GWAS) indicates that my risks for disease are:

Coronary Artery Disease - increased risk
Diabetes Type 2 - average risk
Rheumatoid Arthritis - average risk

Thus for me, becoming a vegan 7 years ago was truly a great idea. By reducing all my cardiac risk factors, I've likely negated my genetic risks.

This analysis used regions of my genome that are associated with diseases, not a full sequence. The full 60 million base pairs will be completed using the next generation technology described in this presentation.

In 2008, the US Healthcare Information Technology Standards Panel (HITSP), has been chartered with harmonizing the standards to securely transmit genome sequences. The work will be completed by October 2008.

The folks at the Personal Genome Project hope to expand their effort from the 10 pilot volunteers they have today to 100,000 volunteers. If they are successful, they may even win the X-prize.

In 2008 we'll have the technology to sequence humans in a fast affordable way, then transmit that data securely with patient consent to those who need to know it. The future of personalized medicine is around the corner, not a decade from now!