Someday You Will Know the Sequence of Your DNA

21 October 2012
Published in Health
Written by  Kim Schuske
Someday You Will Know the Sequence of Your DNA Miraikan, Flickr Creative commons

Our genome contains all of the DNA information needed to build and maintain our bodies. Almost ten years ago the first human genome was sequenced at a cost of hundreds of millions of dollars. These days it costs only 10,000 dollars to sequence a person’s genome. In the not-so-distant future all of us may have our genome sequenced –and that could change the face of medicine.  But a precedent-setting lawsuit involving gene patents, currently in federal court, may impact this new technology.

Mark Yandell looks on as thousands of letters pass by on his computer screen. Strings of As, Cs, Gs, and Ts, the letters correspond to the four molecules that make up the DNA code of all organisms. They are strung together in different combinations and organized into the more than 20,000 genes, which code for the protein building blocks of life.  Yandell is a researcher at the University of Utah. His lab tries to makes sense of the code. “There’s two reasons for sequencing individuals genomes. The first is just general discovery. We still don’t know a lot about what’s in our genomes especially when thinking about the history about different populations around the planet.”

The second reason he says is from a health and clinical care point of view. “In most states whenever a child is born a whole series of clinical tests are run to test the child for a series of inborn metabolic errors. Phenylketonuria, often children are tested for CF [Cystic Fibrosis], muscular dystrophy, etc. And so one of the appealing aspects of whole genome sequencing is simply that you can ask every possible test all at once.”

The technology used to sequence genes has improved tremendously in the past few years – making the far-fetched dream of affordable, personal gene sequencing now seem a real possibility. “The technologies that are already their on the street look like they can bring the cost of sequencing down in the 1-3,000 dollar range, which is where it needs to be for things like Medicare to begin covering it.”

Yandell says knowing the sequence of your genome would allow you to make decisions to improve your health. “If you know that you carry what are likely to be predisposing mutations involved in genes in cardiovascular health. Dad may have passed away at age 50 from a heart attack, but there’s no reason on earth that need be you as well if you just don’t smoke and watch your weight.”

As whole genome sequencing technology moves forward, it may be on a collision course with current business models and existing patent laws. Partly because of the expensive and long term effort involved in finding a disease gene. The US patent office decided back in the 1980s that the DNA sequence of a gene when removed from the body is patentable. The patents gave genetic diagnostic companies twenty years of exclusive rights to develop tests based on a genes sequence. A Salt Lake City company, Myriad Genetics, holds patents on two high risk breast cancer genes. They are among the earliest gene patents and the most controversial. Greg Castanias is Myriads lawyer. He says isolated genes are a man made invention and therefore patentable. “They are not your genes, it is a gene, it is a tool, and it is a composition of matter. It is new, it is useful, and it is profoundly valuable. It is the sort of thing we want patents to encourage the development of.”

The American Civil Liberties Union, a number of research and patient groups and more recently the US Department of Justice, disagree strongly with this premise.  Chris Hansen is with the ACLU. He says the patents give Myriad Genetics the exclusive right to look at the BRCA1 and BRCA2 genes. “That means that no one else in the country can look at your gene or my gene because of the nature of these patents.”

Women who have mutations in BRCA1 or 2 have a significantly increased risk of developing breast and ovarian cancer. Myriad charges more than 3,000 dollars to test the genes in people who have a family history of the disease. The ACLU’s Hansen says Myriad’s discovery was difficult to achieve and is very valuable to society, but he says you cannot patent a product of nature, and genes are a product of nature. “Gold is unpatentable, gold is a mineral found in a mountain. If you spend and enormous amount of time and energy and effort to find the gold, and enormous amount of time and energy and effort to dig the gold out of the mountain, the gold that you’ve dug out of the mountain is still gold. It’s not a human invention.”

The case is currently winding its way through federal courts and will likely be appealed to the Supreme Court. A decision that finds gene patents to be valid could dramatically affect this burgeoning gene sequencing industry. The concern is, if you get your genome sequenced will you have to pay Myriad as well as other patent holders to look at the genes and determine if you are at higher risk for disease? Chris Hansen thinks you will. “If someone sequences your entire genome, they have violated Myriads patents, and they can be sued for damages for doing that.”

But it may not be that simple. Edward Reines a patent attorney in California says the patent violation will come not in sequencing a person's DNA, but possibly in using that sequence to determine if the person is at risk for a disease. “If you want to look at the tiny fraction of your genome and compare it to other genomes to determine if you have a predisposition to disease, there’s the potential for that to be patented.”

Greg Castanias, Myriads lawyer, says he’s unable to comment on whether personalized sequencing would violate Myriad’s patents.

Another concern at the heart of this case is, who will pay for the ongoing research into the human genome? For now there are more than a thousand genes known to contribute to the risk of developing various diseases including cancer, diabetes, and certain heart conditions. Many more still need to be found. Government agencies are funding academic researchers to do these studies. But, patent attorney Reines says ultimately only private industry will do the enormous amount of work required. He adds they won’t do it for free. “If you want the private sector in incubators and laboratories across the country to spend the time grinding through genetic code to find out what the relationship are between the code an illnesses, you have to have some way to get them compensated.”

He says if patents on genes are declared invalid, there’s a possibility in the future that gene related discoveries will become trade secrets and companies will not disclose what they’ve learned about disease.

This story originally aired 4/11/11

UPDATE: The case filed against the Brca1 and Brca2 patents by the ACLU and plantiffs has been bouncing between U.S. Federal Courts and the Supreme Court. Most recently, the U.S. Federal Court of Appeals in Washington D.C, ruled the patents are valid. In September, 2012, the ACLU and plaintiffs petitioned the U.S. Supreme Court to review this ruling. They are currently waiting for a decision.

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