The research company Complete Genomics has figured out a way to sequence the human genome for less than $5,000 in chemicals, making it seem more likely than ever that affordable genetic profiles will become a thing of the mainstream.
Complete Genomics, a biotech start-up based in Mountain View, California, announced last week that it had produced three complete genome sequences for an average cost of $4,400 apiece. The error rate of these sequences is thought to be extraordinarily low, estimated at one in every 100,000 bases.
A number of companies, among them IBM, GE Global Research and Helicos BioSciences, have spent the last few years competing to develop low-cost sequencing technology. One of Complete Genomics's sequences used only $1,500 in materials, making it the least expensive genome to date.
The $4,400 figure doesn't tell the whole story; that's just the average value of the chemical enzymes used, and it doesn't reflect the labor or computational costs. Still, when the Human Genome Project finished the first sequence of a human genome in 2003, the cost is believed to have been at least $500 million. The latest results from Complete Genomics amount to an incredible markdown, and the company's competitors in the sequencing industry have promised even lower prices down the line.
If and when personal genome sequencing becomes something a majority of people can afford, it's likely to change almost everything about how care is administered. Whatever variations might be present in an individual's genetic code will show up in a genome sequence, including those associated with disease. Physicians would not only be able to offer preventative suggestions to their patients, but, since the genome also contains information about a person's metabolic reactions, they'd have a better chance of prescribing medicine that wouldn't cause unwanted side effects.
Earlier this year, Jay Flatley, CEO of the biotech firm Illumina, predicted that by 2019, genome sequencing will be not only affordable but routine, administered to newborns before they leave the hospital.
Of course, it might not always be a good thing to have access to the secrets of one's own genetic code. Certain genomic profiles could predict a dramatically shortened life expectancy, and it's not hard to imagine that some people wouldn't want to go about their lives with that knowledge hanging over them. The susceptibilities and predispositions revealed in a genome sequence would also be of likely (and possibly unwelcome) interest to insurers and employers.
If nothing else, the advent of routine genome sequencing is sure to complicate the vocabulary of care providers. If a baby displays a genomic marker for Niemann-Pick disease, does that count as a pre-existing condition? It's not a question we have an answer for, but we'll probably need to come up with one before long.
A detailed account of Complete Genomics's discount sequencing methods can be found at Ars Technica.