DNA technology has become a ubiquitous part of today’s culture. TV detectives work magic with the smallest bit of tissue to extract the identity of the killer, while actress Angelina Jolie underwent a preventive surgery because a genetic diagnostic test revealed she had a mutated BRCA1 gene. As genetic testing of all kinds becomes cheaper and more widely available, it is important to explore the issues of ownership each individual has in his or her genetic code.
About one year ago, the Supreme Court took on this issue in Ass’n for Molecular Pathology v. Myriad Genetics, Inc., 133 S. Ct. 2107 (2013). The case involved the diagnostic test for the BRCA1 and BRCA2 genes, which have been linked to an increased risk of breast and ovarian cancer. Myriad Genetics, Inc. found the precise location of these genes; it applied for and was granted a patent on the isolated DNA and lab-made complementary DNA (cDNA) versions of genes. The patent that was granted was broad, and included any sequence with 15 base-pairs similarity in order to include all the possible mutations. This gave it an effective monopoly on providing an important diagnostic test. The patent was then challenged by Dr. Harry Ostrer of Albert Einstein College of Medicine along with a group of medical patients, advocacy groups, and other doctors.
Patent law can be very complicated, but it is a well established rule that products of nature cannot be patented. It was on this ground that Myriad’s patents were challenged; the plaintiffs argued that simply isolating a gene from the genome does not create anything new that can be patented. The Supreme Court agreed with regards to isolated human DNA by striking down that patent. They did so partially on the grounds that although breaking the chemical bonds to isolate the gene may technically make a novel product, it is the information stored within that is of value, not the molecule itself, and that information remains the same. However, the Court ruled that cDNA, because it is entirely lab-made and occurs nowhere in nature (in vivo, DNA is transcribed into mRNA), is a new product and upheld the patent. This is despite the fact that the same information is contained within, albeit it in a complementary form.
There are many policy concerns underlying a decision like this. Myriad and other biotech companies argue that innovation would be stifled if they cannot protect and profit from expensive discoveries. On the other hand, granting a monopoly on a potentially life-saving diagnostic test can be troublesome. Before the case was decided, Myriad offered its test for $4000, and there was no option for a second opinion. Immediately after the decision, competitors began to offer tests at a much cheaper price, ranging from $2200 down to $995. Medicare followed suit this January by slashing the reimbursement amount it would pay for the test from $2795 to $1440, a 49% decrease. (http://www.medscape.com/viewarticle/818633). Also of note, 23and me offered a limited version of the test for only $99, until the FDA forced them to stop offering medically relevant testing. More competition will inevitably lead to more access to the test for a wider range of the population.
However, other concerns should also be raised as companies vie to patent and control our DNA. As medical testing becomes further personalized, at one point should the line be drawn? The US Patent Office has issued a patent on an estimated 41% of the human genome already. (Pervasive sequence patents cover the entire human genome., Rosenfeld JA, Mason CE., Genome Med. 2013 Mar 25;5(3):27) Myriad shows that although the naturally occurring DNA is unpatentable, the cDNA of the same genes are. The impact this could have on research, although unknown, could be large. It is the same information contained in both naturally occurring DNA and cDNA that is of importance in research. A company who owns a patent on cDNA could conceivably prevent any other institution from creating the same sequences their own lab, from their own genes. As these techniques become more widespread, this could cause many problems for potential studies.
Perhaps more troubling is the sense that companies are dividing our DNA up and claiming it. DNA occupies a dichotomous position; it is both highly personal to each individual, as it is the very blueprint from which we are built, and yet simultaneously we each have a BRCA1 gene in our genome. Myriad’s patents on cDNA cover all forms of the gene in each of us, and it contains the same information as our native DNA. It is not the molecule in our body, but rather the information it contains that is important. If it is the information that makes us unique, how can a company patent not the process of creating the cDNA, but the information itself, just because it is contained in a lab-made molecule?