As new innovations are developed at lightning speed for sequencing the human genome, the race for affordable sequencing is here and promises to create a health revolution. According to Elizabeth Finkel, writer at Cosmos Magazine in her feature article, “The $1,000 genome: the future has arrived,” the race for the $1,000 genome was won by Illumina. Illumina is a San Diego-based company that pulled ahead of competitors such as Complete Genomics and Ion Torrent. Initially, it took 14 years and $3 billion for a global consortium to read the first human genome in 2000, but by 2009 Illumina was charging $48,000. With Illumina’s new Hi SeqX ten sequencing machine, a human genome can be read for $1,000 and 16 human genomes can be sequenced in three days.
According to Eric Lander, director of the MIT and Harvard genomics center at the Broad Institute in Boston, “Over the next few years, we have an opportunity to learn as much about the genetics of human disease as we have learned in the history of medicine.” The cost of having your genome read will not cost much more than a typical lap top computer and of course the price will continue to fall.
Companies like Counsy and Good Start Genetics will be able to sequence the genomes of you and your partner and let you know if it’s a good idea for you to plan on starting a family. Consider that one percent of all babies are born carrying a genetic defect and these DNA tests are capable of picking up around 3,000 of them so far and the number is going up all the time. Currently, another company, Verinata, recently bought by Illunima, can detect defects in fetal DNA by testing the mother’s blood. The company offers tests for particular diseases such as Down’s Syndrome but it won’t be long before the company will be able to offer the entire fetal genome.
According to Richard Gibbs, the Australian-born director of the Human Genome Sequencing Center at Baylor College of Medicine in Houston, Texas, genomic sequencing is demonstrating its worth to people who have an undiagnosed genetic disease. DNA sequencing is streaming into the clinic in a way that’s blinding. Sometimes solving the mystery leads to treatments as in the iconic case of the Beery twins. Certainly, DNA sequencing can offer patients more understanding about the prognosis for their illness.
Clearly, genomic sequencing is great for rare diseases but is a different story for common diseases. The reason for this is that common diseases are complex meaning they involve many genes but most of those genes can’t be detected by reading the genome at this time. An example of this would be Schizophrenia. Schizophrenia has a large genetic component (80 percent) but those genes can’t be detected by reading the genome. What is know is that there appears to be thousands of genes responsible that come together in different combinations to cause the disease.
Nevertheless, the complexity of such diseases such as schizophrenia, autism or diabetes is at best problematic but the future holds great promise. As even cheaper sequencing becomes available, millions of genomes will be read and that will bring the possibility of decoding common diseases within our grasp.
According to geneticists Peter Visscher and Greg Gibson, “We can expect major advances in our ability to explain the genetic component of disease risk and thus to predict disease. What we do with that information is a sociological concern with major public health implications, and now is the time to contemplate the implications.”
There is one common disease that may succumb to having its genome read and that is cancer. It is known that the rampant growth of cancer cells is accelerated by mutations in genes and yet each cancer is driven by different genes. Researchers have been decoding cancer genomes to find out what those accelerator genes are. When they find them, sometimes they can pull a drug off the shelf that will turn them off. This has been particularly true for pancreatic cancer. The first three customers for Illunimas new sequencing system is the Sydney-based Garvan Institute which is part of a global consortium for identifying genes that drive cancer.
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