Many years of legal argument culminated this week in a landmark ruling by the US Supreme Court. In Association for Molecular Pathology vs. Myriad Genetics, the SCOTUS judges ruled – unanimously – that isolated human genes are a product of nature and, as such, are not eligible for patent protection.
As advances in technology, namely the ease with which genes can now be sequenced, cast gene patents in an ever more anomalous light, Genome Biology and our sister journal Genome Medicine tackled the issue from a number of angles. You might even say that we brought a myriad of views to the debate…
Back in 2010, regular Genome Biology contributor Steven Salzberg published a Correspondence laying out a method for DIY genetic testing of Myriad's patented BRCA genes. In some eyes, Salzberg's proposal skirted close to the fringes of what might pique the interest of Myriad's lawyers, or at least would have done if carried out for profit.
Science vs law
The following year, we reported from the 12th International Congress of Human Genetics (or, more familiarly, ASHG), where a debate on gene patents formed a key part of the program at what is the world's premier human genetics conference. Panel member Judge Sweet, who had ruled on one of the Myriad case's many iterations, made clear that asking lawyers not trained in the sciences to rule on complex patent arguments is a far from ideal process.
Indeed, as Salzberg points out on his Forbes blog, the SCOTUS ruling is riddled with basic biological inaccuracies. Moreover, many scientists will be puzzled by the distinction the lawyers-cum-judges of SCOTUS make between 'isolated DNA' and cDNA. A separate, but concurring, Opinion by Justice Scalia was not only honest enough to admit his ignorance of genetics and molecular biology but even declared an open hostility to the very science on which he was ruling: "I am unable to affirm those details on my own knowledge or even my own belief."
When a Court decides matters on which it is – by its own admission – ignorant, one has to wonder if a better solution might be for Congress to pick up the slack with legislation. As put by Allison Dobson and Jim Evans in a Genome Biology Opinion (which dissects the issues surrounding gene patents): "History is full of examples in which existing law could not keep up with what was happening on the ground."
Open questions: cDNA and gene fragments
As touched upon above, one unresolved area that future courts or legislatures might seek to address is the question of cDNA patent eligibility. SCOTUS ruled that cDNA should be considered as a natural product for the purposes of patent law, although care was taken to express no opinion on patent eligibility on other grounds. Therefore, although Myriad's key patents on isolated BRCA genes have been struck down, its patents on BRCA cDNA still stand.
One of the claims within Myriad's cDNA patents, as with its isolated DNA patents and the gene patents filed by many other biotech companies, is that the protection extends not just to the sequence as a whole, but also to short fragments of a gene. Put simply, the patents cover any 15 base-pair sequence found within the thousands of base pairs that make up BRCA cDNA.
Chris Mason and Jeffrey Rosenfeld showed in a Genome Medicine Correspondence article that the 15 base-pair clause lays claim to sequences in many hundreds of genes; in fact, a similar patent for one particular bovine gene covers 85% of genes in the human genome. The many questions raised by the startling figures in Mason and Rosenfeld's article were the subject of a Twitter chat, with participants including Mason himself and 23andme co-founder Linda Avey.
A new era
To many observers, including Evans, the SCOTUS ruling of 'no' to isolated DNA and 'yes' to cDNA was entirely unsurprising. Indeed, many experts had publicly expected this verdict based on the discourse of the SCOTUS hearing (although fewer had predicted the unanimity of the judges). So why is the judgment a big deal?
Well, change is already happening. What was for years hypothetical arguments about baseball bats is suddenly real world impact. Within hours of SCOTUS holding that "a naturally occurring DNA segment is a product of nature and not patent eligible merely because it has been isolated", multiple competitors had announced cut-price genetic tests for BRCA genes.
We have transitioned to a new phase of personal genomics and moved on from lawyers entangling themselves with what might be construed as unhelpful, irrelevant and unsupported analogies about randomly selected inanimate objects.
In the words of Stanford Law Professor Hank Greely: "Price hemorrhaging begins!"