Illumina: Genotyping the 21st Century
In 1990 James Watson, one of the discoverers of the structure of DNA, led a group devoted to cracking the code he and Francis Crick uncovered nearly 40 years before: the Human Genome Project, part of the National Institutes for Health. After thirteen years and four billion dollars, the Human Genome Project had succeeded in mapping the vast majority of human DNA. The work of the Project validates the genetic principles embodied in Gregor Mendel’s peas and Charles Darwin’s finches. Now all that is left, it would seem, is for scientists to sift through the three billion base pairs of nucleotides and determine which of the estimated 25,000 genes match up with which part of the DNA strand. After all, the sequence is mapped, right?
Each person, except for identical siblings, contains a unique DNA sequence, which retains endless variations. The process has been getting cheaper than the $4 billion initially spent on the project. When Dr. Watson had his genome mapped in 2007, the cost had declined to $1 million. Today the cost of mapping one’s genome is roughly $100,000. These monumental cost declines have been brought about by companies like Illumina, which is at the forefront of this genetic revolution.
Illumina hopes to unveil new products by the end of this year that can map an entire genome for $10,000 to $20,000. The company hopes to reduce that cost to $1,000 in the next four years, eventually making genome sequencing an integral part of neonatal care.
But what is the usefulness of mapping a person’s genome? Was the $4 billion spent for mere academic curiosity, without any practical application? Of course not. Some inherited diseases derive from a relatively tiny stretch of DNA. It is relatively simple to analyze a small section of DNA for, as an example, cystic fibrosis, which is already done in delivery rooms today. Unfortunately, some conditions are not as simple to discover. For instance, being predisposed to having a weak cardiovascular system may involve hundreds of genes in different parts of the DNA strand. A simplistic and inexpensive analysis will not be able to uncover all of the factors that contribute to such a condition. Having an entire genome to look at will give a better picture of a person’s health. And it is not going to cause more anguish for the recently born child. The same amount of blood taken from a newborn’s heel for current analyses provides enough DNA to analyze the entire genome.
Illumina already has products that can analyze an entire genome. Its Genome Analyzer was recently used to map the genome of the Giant Panda. The company is actively pursuing whole genome mapping as part of its main strategy, and will hopefully reduce the cost of such an analysis by 80 or 90 percent this year alone. Knowing a person’s genome will revolutionize preventative medicine. If Illumina can produce machines that dramatically lower costs, making it affordable for most people, then there is no reason not to perform full genome mapping in the delivery room. If Illumina can fulfill these goals, then its genome mapping technologies will signal the direction medicine takes in this new century.
