Last week, the New York Times reported that a Stanford engineer has developed a new technology to sequence the entire human genome for less than $50,000. This is a remarkable reduction from the $20 million estimate of three years ago, and it's half the price currently offered by the personal genomics company Knome (pronounced "know-me"). Dr. Stephen Quake, the Stanford inventor, claims his new Heliscope Single Molecule Sequencer's ability to decode a human genome in four weeks with a staff of three people will serve to "democratize access to the fruits of the genome revolution."
There is no question that faster and cheaper sequencing technologies such as this one will bode well in our quest to understand the genetic underpinnings of complex diseases. Yet there is another serious impediment to the medical uses of our genomes that could seriously limit — if not render moot — the benefits of this and other dramatic advances in next generation sequencing.
Starting 20 or so years ago, the United States Patent and Trademark Office (PTO) began issuing patents on human genetic sequences. Approximately 20 percent of our genes, including those that have been associated with breast and ovarian cancer, Alzheimer's, asthma, and muscular dystrophy, are currently controlled by private corporations, universities, and individuals.
The PTO's decision to issue patents on chunks of our genetic code was a serious mistake. Genes are products of nature. They were not invented, but inherited across species and over thousands of generations. The law is clear that products of nature are not patentable subject matter. The genetic code is also information - basic scientific knowledge. And you can't patent that either.
Moreover, the decision to issue patents on genes was driven, in part, by the flawed notion that the causes of each of our most dreaded diseases could be attributed to a single gene. The "one gene, one disease" theory has since been thoroughly debunked. It is now common knowledge that, with very few exceptions, things are far more complicated. Diseases such as cancer and autism involve not one gene, but many, as well as interactions among those genes (not to mention the environment).
The pathway toward understanding this complex terrain might very well depend on access to the genome in its entirety. But gene patents are poised to stand in the way of patient care. Some patent holders have used their patents to retain a strict monopoly on gene sequencing in clinical settings, preventing other labs from offering cheaper and sometimes more comprehensive diagnostic testing to patients. This problem will only worsen as researchers interested in developing multi-gene tests are faced with an expanding thicket of patents.
To address this and other problems associated with these patents, the ACLU has filed a lawsuit challenging the patenting of human genes.
The era of the $1,000 personal genome may be approaching. But its utility for doctors and patients will depend on whether patent-holders continue to be allowed to control access to certain genes. There is no reason to expect that especially aggressive patent-holders will allow other companies to include "their" genes in comprehensive genome testing. The pathway to personalized medicine demands that we have access to our full genetic sequence — not one with gaping holes where the most critical stretches of information lie.