December 19, 2010

Who owns human genes?

For my first Real Debate Wisconsin science article, I have decided to focus on human gene patents. The issue involves the patent protection of thousands of human genes and the elimination of drug development, diagnostics or any type of discovery based on these genes without approval of the patent holders.

Genes, the DNA sequences found in cells, “code” for RNA which in turn codes for proteins, often contain non-coding sequences called introns. Think of a blind person “coding” Braille into words. Cells have to skip over the non-coding introns when turning DNA into RNA. The RNA made by cells therefore only contains the sequence that leads to production of a protein. When a gene is cloned in a laboratory, scientists fish around and create a synthetic gene called a cDNA (c for “complementary”) which excludes the introns and stitches only the coding sequences together. This construct does not exist in nature and can be used for further study. For example, diseases are often caused by mutations in genes that in turn lead to faulty RNA and ultimately proteins, so studying these genes can lead to diagnostics and drugs. It is important to note that the cDNAs contain no information not already found in genes, they are simply versions that have edited out the non-coding parts.

Beginning over twenty years ago, pharmaceutical and biotechnology companies, as well as universities and foundations, tested the waters at the U.S. Patent and Trade office. They argued that these cDNA sequences were patentable, even though they only contained information already found in nature, because the cDNAs were synthetic products of scientists in laboratories. The PTO agreed. One of the early patent submitters, Myriad, applied for patent protection for two mutated genes responsible for some inherited forms of breast cancer, and these mutations were named BRCA1 and BRCA2. The patents were granted, and from that point on only Myriad could screen for those mutations in clinical tests.

The ACLU and a number of scientists have been challenging these patents for some time, and this past spring the U.S. District Court for the Southern District of New York invalidated Myriad’s BRCA patents. The U.S. government recently filed an amicus brief which argued for reversal of the original position of the U.S. PTO. I encourage anyone interested in this issue to read this brief (although it is not brief in length) because it provides a wonderful review of the science and explains their arguments extraordinarily well:

http://graphics8.nytimes.com/packages/pdf/business/genepatents-USamicusbrief.pdf

I am a strong advocate of the patentability of drugs and diagnostics – without patent protection there would be no drugs or diagnostics available – because they are based upon new chemicals, new processes, and often both. However, I have always found the concept of patenting the information found inside human cells to be an abomination of patent law. One of Myriad’s many arguments is that production of a cDNA is non-obvious and in fact difficult, and does not exist in nature. No it doesn’t – but the sequence information does! As for it being difficult, I cannot patent a rock I find in my backyard, but if I spend lots of money to take an expedition to the Amazon, should I be able to patent a rock I find there?

A series of articles are now being offered by the Journal Sentinel that talk about a little boy who had all of his genes sequenced (no introns, just the coding information). This led to the discovery of a unique mutation in one of his genes and a subsequent treatment:

http://www.jsonline.com/features/health/111641209.html

Imagine if a company (or WARF) “owned” the mutated gene these physicians discovered. That little boy’s doctors would have been unable to do anything without permission of the patent holder.

What do you think?

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