DNA is special. Unlike other body parts, it holds information. Even discarding a blood spot or saliva sample doesn’t necessarily prevent the telltale DNA sequences from living on in a database.
We guard our DNA data in a way that we don’t other test results, such as cholesterol levels. “Genes are uniquely ‘ours.’ They say something about us at some fundamental level, more than a mammogram or a Pap smear or an x-ray,” said James Evans, MD PhD, professor of genetics at the University of North Carolina, Chapel Hill, at a symposium on DNA patenting at the International Congress of Human Genetics in Montreal in October 2011.
Our emotional attachment to our genomes may be part of why the patentability of the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2 has been pinging from court to court for years. The latest chapter: on March 26, the U.S. Supreme Court asked the U.S. Court of Appeals for the Federal Circuit, which had upheld the Myriad Genetics and University of Utah’s patents on the two genes, to reconsider.
This move, many think, stemmed from the March 20 invalidation of Prometheus Laboratories patents on measuring levels of a metabolite to assess whether a dosage of 6-mercaptopurine to treat inflammatory bowel disease is too low to work or high enough to cause adverse effects, procedures that the court found "add nothing specific to the laws of nature other than what is well-understood, routine, conventional activity." Patents for cancer genes useful as a diagnostic may seem to have little to do with measuring a metabolite to adjust a dosage, but, at the risk of evoking a double negative, they share a lack of “non-obviousness,” one of the key requirements of a patentable invention.
Cervixes and Spleens Led the Way
The two most famous cases of body parts exploited for profit – Henrietta Lacks’s wild cancer cells and John Moore’s celebrated spleen – can’t match the power in the 3-billion-bit identifier that is a human genome.
HeLa cells originated in the cervix of a poor, uneducated African-American woman. In 1951 Henrietta Lacks’s unusually prolific cells were sampled, cultured, and sent to labs all over the world, without her or her family’s knowledge.
John Moore gave up his swollen spleen in 1976 to treat his leukemia, unaware that his physician, hospital, and a biotech company would patent the cells and sell an unusual protein that they produced. Moore sued, but the California Supreme Court ruled against him, finding that removed cells are not the equivalent nor the product of a person.
A Brief History of DNA Patents
The U.S. Patent Act, passed in 1790, defined a patentable invention as novel, useful, and non-obvious to an expert in the field. It’s easy to see how a patent might apply to a self-flushing toilet or an electronic gadget, but the picture gets murky on the matter of DNA.
One can’t patent ideas, laws of nature, or products of nature. But it’s been okay to isolate a chemical from nature since Parke-Davis claimed adrenaline in 1911, deeming it different outside a body.
U.S. patent law ventured into biology in 1980, with General Electric’s “oil eater” bacterium that combined DNA rings from four microbes. Nature hadn’t invented that. Then in 1990, the patent office added rules for claiming DNA sequences. Within a year, Amgen patented the first gene, erythropoietin (EPO), used to treat anemia. The European Union declared genes patentable in 1998.
Isolating a gene supposedly renders it patentable, for it is no longer a “product of nature,” separate from its chromosome, its non-essential parts removed. The remaining DNA becomes a novel 'composition of matter.'
Two Controversial Cases
An early gene patenting battle concerned Canavan disease, which strips brain cells of their insulating myelin coating beginning in infancy and usually lethal in childhood. The patent holders – four researchers and the University of Miami – developed a diagnostic test using the gene. Then families who had donated their children’s brains to the gene researchers found themselves having to pay to test their other children. Although that case was settled when the plaintiffs ran out of funds, with the cost of the test dropped and the gene made available to researchers, it set an informal precedent for the current BRCA controversy.
Three years after the Canavan gene patent issued, in 2000, the first of Myriad Genetics’ BRCA patents issued. They’ve triggered outrage ever since.
The American Civil Liberties Union and the Association for Molecular Pathology, representing 150,000 geneticists, cancer survivors, pathologists, and others, sued the U.S. Patent and Trademark Office (USPTO), Myriad, and the University of Utah in May 2009. On March 29, 2010, senior judge Robert W. Sweet for the Federal District Court for the Southern District of New York ruled the patents invalid. Said he at the International Congress of Human Genetics, "A human gene is not an invention. DNA’s existence in an isolated form alters neither this fundamental quality of DNA as it exists in the body nor the information it holds." In August 2011 the U.S. Court of Appeals for the Federal Circuit overturned Judge Sweet’s decision, and now the March 26, 2012 Supreme Court’s setting aside of that ruling for further discussion is keeping the patent ball in play. The final result, whatever it is, will be important to many, because a fifth of the 20,325 or so human genes are patented.
The Cat’s Out of the Bag
It looks, at least this week, like DNA patents will become a thing of the past as consensus slowly builds that a product of nature isn’t an invention after all. But another reason why such patents are headed for extinction, I think, is that DNA testing has transcended the single-gene legacy of Gregor Mendel that peaked in a crescendo of discoveries in the 1990s, giving way to the age of genomics. Genes are no longer seen as islands. Even the three most common mutations in the much-discussed BRCA genes impart susceptibility, not certainty, with actual risk reflecting influences of other genes and the environment.
Here are four ways that average people are encountering genes, without a thought to who or what entity “owns” them.
Three-year-old Gavin Stevens, blind from birth, had been tested for more than a dozen genes known to cause Leber congenital amaurosis when his parents, Troy and Jennifer, met with John Chiang, PhD, director of the Molecular Diagnostic Laboratory at the Casey Eye Institute in Portland, Oregon, who sent the family’s DNA samples to the Beijing Genomics Institute to have their exomes sequenced. And within this protein-encoding portion of the genome lay the answer: Gavin’s mutant gene – the first stage in developing a gene therapy.
Clients of direct-to-consumer genetic testing companies are providing the numbers to accelerate discovery of the many genes that contribute to common diseases. 23andMe has already found two new Parkinson’s disease, susceptibility genes, thanks to the DNA of 3,426 customers with the disease and nearly 30,000 controls.
Forensic DNA databanks track some two dozen sites of short repeated sequences in the genome that collectively vary in more ways than there are people on the planet. DNA profiling has led to hundreds of exonerations and convictions. Several states have recently expanded their forensic DNA databases.
Every few weeks, Family Tree DNA alerts me to the existence of a possible long-long-lost cousin among the many consumers sending in DNA samples. The power of tracing the deeper branches of the human family tree, of inferring when and from where and how many times some of our ancestors left Africa and spread around the globe, depends upon amassing DNA information from as many populations as possible.
Could any of these potentially life-altering uses of DNA sequencing have happened if gene patent-holders charged prohibitively high licensing fees to the companies that package their discoveries into test panels and kits? Will our courts allow patented genes to impede progress at the genomic level, like tiny private stretches of sand interrupting an extensive public beach? Because so many applications of the information in our genomes are clearly already here, I think that the idea of owning a gene is already obsolete, and the courts need to catch up with the science.
Summed up James Evans, "the human genome is a shared legacy." I couldn’t agree more.