By Dr Zafar M. Iqbal
TCCI, Chicago, IL
Science, in general, has been flirting with the law for quite some time now. Ever since a genetically-modified oil-eating microbe, Pseudomonas putida, was granted patent in 1980, the controversy has been raging in one form, area or the other on the patentability of a naturally-occurring substance. Genetically-modified food items, even with the questions you may still have, are ubiquitous now.
On June 13 this year, the Supreme Court of the US (SCOTUS) made a unanimous decision in the case of Association for Molecular Pathology vs. Myriad Genetics. It ruled that Myriad’s discovery of the precise location and sequence of the breast genes, popularly known as BRCA1 and BRCA2, “did not qualify” as patentable, and struck down, 9-0, the patent that Myriad had been granted some years ago.
For the SCOTUS, Justice Clarence Thomas wrote, “[a] naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated,” [and added] “that Myriad did not create or alter any of the genetic information encoded in the BRCA1 and BRCA2 genes.” As Justice Thomas clarified, “[g]round-breaking, innovative or even brilliant discovery does not by itself satisfy the criteria” for patent eligibility.
Mutations in these BRCA genes significantly increase the risks of the breast and ovarian cancers, a matter that gained wide public awareness and concern when actress Angelina Jolie announced her double mastectomy recently, as a preventive step. Prior to the SCOTUS decision, Myriad had been the one and only diagnostic firm legally allowed to develop and conduct the specific test for these mutations. The cost of this test, around $3,500, was too prohibitive for many women interested in screening for these genes. Other competitors, no matter how efficient and with tests less expensive, were not permitted to conduct the same test because of patent infringement. The June 13 decision disappointed Myriad, in particular, and the biotech industry, in general; both had enjoyed massive investment in recent years, but the ruling delighted those interested in BRCA 1&2 tests as a preventive measure and the public-interest health groups as well as many scientists and cancer phyicians. Daniel Ravicher, executive director of the Public Patent Foundation, said "Nobody invents genes, so no one should be able to claim ownership of them," and “[w]e are talking about a genetic marker that occurs naturally in the human body. That cannot, and should not, be patented." He was careful enough to add "We are not talking about a new drug or a new tool to fight cancer.”
General estimates are that between 3,000 to 5,000 human genes, or about 20% of the entire human genome, had so far been patented, a fact which has raised many ethical, legal and public-interest debates, not to mention the growing controversies in the academic and scientific circles. Hours after the SCOTUS decision, a levelled, competitive ground was created for the first time in years. Myriad’s stock dropped immediately by more than 10% and more in the following days. Other commercial competitors, like GeneDX, also substantially dropped the cost of diagnostic tests for BRCA1 &2. This also feeds the long-term investment concern, as the biotech industry claims, that this action might compromise scientific research progress in the future.
In its ruling, the SCOTUS did make a distinction between naturally-occurring genes that are not patent-eligible and products of complementary DNA (cDNA), a synthetically manipulated gene, and its product which can be patented. While it is known that the DNA sequence of a gene is transcribed into messenger (m) RNA, which in turn is translated into a chain of amino acids forming a specific protein. In eukaryotes, including humans, genes are not only complex but also contain non-coding segments (‘introns’) separating the coding segments (‘extrons’). When an eukaryote gene is expressed, all ‘introns’ are cut or spliced from mRNA primary script and the rest of coding parts are spliced back together to form mRNA which then gets translated into a protein. On the other hand, in bacteria or prokaryotes, there are NO ‘introns’ to splice out first.
One of the important parts of genetic engineering involves making eukaryote DNA express itself in the bacteria. Since bacteria lack the intron-splicing mechanism, the eukaryotic DNA will have to have its ‘introns’ removed before eukaryotic DNA can be expressed into a bacterial cell as ‘intron-free’ mRNA, which then serves as the template for what is called cDNA. With a required promoter (some bacterial DNA sequence), bacteria can then translate this cDNA into protein. Since such cDNA, or synthetic DNA, involves human ingenuity and technical expertise (unavailable in nature), the Court considers such cDNA and its products patent-eligible.
Patents allow a company to do further research exclusively to make new discoveries (drugs, diagnostic tests, etc), without competition, for 17-20 years. This promotes various profitable R&D efforts, including additional patents, which form prime set of investor motivations, and thus a major reason why companies value patents.
The concerns, however, include: the exclusive use of patent for a long time (7-20 years); objections to such monopolization and its protective efforts; and hindrance (or slowing down) of scientific research by others, new discoveries and newer tests/treatments.
In areas where there already are nagging questions on patents, these concerns get unsurprisingly further heightened.