The connection between genome sequencing and individualized health care

Sequencing the human genome has been an extremely long and tedious process that historically takes many years to complete. The Human Genome Project (HGP), funded primarily by the National Institutes of Health, identified more than 20,000 human-specific genes among the 3 billion base pairs analyzed over a period of roughly 15 years (1990-2005). The project was completed in 2003, and the tenth anniversary of this accomplishment will be celebrated in 2013.

There are two companies hoping to market a 24-hour genome this year: Illumina, Inc. and Life Technologies. The fastest sequencer on the market today delivers results in one week on a machine that costs over $700,000 (Illumina, Inc.). By the end of this year, Life Technologies promises to deliver their Ion Proton Sequencer at a rock-bottom price of $149,000 for the machine and $1,000 per genome. If Life Technologies can deliver on their promise, clinical research labs across the world are going to have this technology in their hands. The analyzer is not currently intended for anything other than research, but this is one huge step in the right direction for individualized health management.

These days, doctors use blood samples to measure certain parameters for signs of toxicity that may suggest infection, disease, mineral deficiencies and more. Each parameter has a “normal” range that doctors can use for comparison and potential diagnoses. If individualized treatment plans based on genetic sequencing become a reality, doctors will be able to detect and potentially treat problems on a patient-specific basis using genetic information rather than comparing to a “normal range” of values for the general population. While blood samples will likely continue to be used as a general health screen, the option to analyze a patient’s genome will be instrumental in detecting rare abnormalities and treating unusual conditions, even in infants.

You see, every individual has a unique genetic code, collectively referred to as one’s genome. All humans have very similar code, but the slight differences are what make all of us unique. The uniqueness factors are often what predispose someone to a certain disease, or inhibit (or exacerbate) the effectiveness of antibiotics. So, there are a lot of potential uses for genetic-based treatment tools, but here we are nearly 10 years after the completion of the HGP and feeling slightly disappointed in the lack of tangible results.

Research and development of new drugs and diagnostics is a painfully long process. There is simply no way to speed up good science. The impact of bad science can be devastating so it’s best to take our time, and produce high-quality results that can stand the test of time.

The biggest hurtle now facing geneticists involved with the HGP is what to do with all the data. Because genomes are all different, it’s challenging to make any generalizations about similarities, differences and abnormalities. This holds for the entire medical information technology movement – there is so much data available but without a sufficient way of organizing and analyzing the data, it is essentially useless.  Life Technologies has a plan for simpler data interpretation. They are sponsoring researchers at the Lane Center for Computation Biology at Carnegie Mellon to develop an open source software with applications for clinical research, which could someday make interpreting genomes much easier.