The Human Genome Project: Then and Now

As we discussed in our last blog post, whole genome sequencing is the process by which all 3 billion base pairs in an individual are recorded.  The information is viewed as a very, very long list of 4 letters, A, T, C, and G in many different patterns.  Each of these letters represents one of the four bases, adenine (A), guanine (G), cytosine (C), and thymine (T), that make up the DNA structure in each of the 46 chromosomes in every cell in your body. 

The Human Genome Project, completed in 2003 was the first successful example of whole genome sequencing in humans.  Before this, the whole genomes of bacteria, including E Coli in 1997 and M. Tuberculosis in 1998, as well as more simplistic animal genomes like the C. Elegans roundworm, also in 1998, had been sequence sequenced.  However, nothing as complicated as the entire human genome had been this closely examined. 

This project was an immense undertaking. Its roots stretch all the way back to 1911 with the discovery that genes are organized into chromosomes and are the basic units of heredity.  The human genome project began in earnest in 1991, though significant planning and goal development took place several years leading up to this point.  The sequencing took almost ten years to complete and involved the collaboration of more than 20 institutions in six countries, including the US, France, Germany, Japan, China, and the United Kingdom.  The project cost more than $3.8 billion dollars, and was completed under budget, two years ahead of schedule.

While the human genome project is considered a monumental feat in biology, often compared to putting a man on the moon, one can’t help but wonder that if it took all the money, time, and effort to sequence a single human genome, how would such a process ever be useful for health and medicine?

Science and technology surrounding whole genome sequencing have been advancing at astounding rates since the completion of the human genome project. While the first whole genome cost nearly $4 billion to sequence, the cost is now, only 10 years later, reduced to a few thousand dollars per genome. This is still a hefty price for anyone to pay, and doctors are not yet using whole genome sequencing except in very rare cases. However, as technology becomes more advanced and the cost of whole genome sequencing continues to decrease, doctors might use whole genome sequencing more frequently to diagnose certain diseases and maybe eventually to inform patients of their risk of developing some conditions.

The future of whole genome sequencing’s role in the future of health still relatively unclear, but what is for certain is that sequencing technology is advancing very rapidly, and this will give researchers great opportunities to learn more about how the human body works, and why it doesn’t always work the way it should.

To learn more, visit this interactive guide to the history and science of the human genome project.

And these other great sources: