Are Human Genes Patentable?

Posted By Jey Kumarasamy – Jan. 15, 2014

The recent US Supreme Court decision in Association for Molecular Pathology v. Myriad Geneticsdealt with one primary issue: are human genes patentable? The court ruled that isolated genes cannot be patented. However, synthetic DNA that cannot be found in nature (cDNA) is patentable.

HISTORY

In 1991, scientists at UC Berkeley found that a gene mutation along human chromosome 17 increases the risk of breast and ovarian cancer. As gene sequencing was still a demanding and time consuming process, identifying the specific gene was seen as a challenge and a global search began. A team led by Mark Skolnick, a scientist at the University of Utah, identified the BRCA1 gene and won the race. His collaborators included, Patricia Tonin from McGill University, Johanna Rommens from the Hospital for Sick Children in Toronto, and Jacques Simard from Université Laval.

The Utah team had already founded Myriad Genetics and filed for a BRCA1 US patent. Myriad Genetics invited their fellow collaborators to join the patent claim, but some researchers, such as Patricia Tonin, declined the offer. In 1995, Myriad Genetics identified the BRCA2 gene and filed another US patent. BRCA1 and BRCA2 US patents were granted to Myriad Genetics in 1997 and 1998, respectively.

Myriad Genetics’ developed BRACAnalysis, a patented diagnostic test, and insisted that only their test could be used when screening for BRCA gene mutations. They aggressively enforced their BRCA-related patents to ensure exclusivity. This ultimately led to a law suit against Myriad Genetics, filed by AMP (Association for Molecular Pathology), along with researchers at several universities, and individual patients.

US SUPREME COURT RULING

The Supreme Court held:

“a naturally occurring DNA sequence is a product of nature and not patent eligible merely because it has been isolated, but that cDNA is patent eligible because it is not naturally occurring”[1]

Advances in technology have made DNA mapping and isolation considerably faster than in 1994, when Myriad Genetics filed for a US BRCA1 patent. For instance, the Human Genome Project took 10 years to complete. It began in 1990 and was the first attempt ever to sequence the entire human genome. Today, a similar project would take a few days. Further developments in technologies such as, nanapore sequencing, may soon make it just a matter of hours. Therefore, gene isolation is no longer as challenging as it was when the BRCA genes were first identified.

Furthermore, Professor Eric Lander’s amicus curiae brief may have influenced the Court to invalidate Myriad Genetics’ patent claims on isolated genes. Lander, a Professor of Biology at MIT, provided scientific evidence that isolated DNA fragments of the human genome do occur in nature. DNA fragments may be found, for example, in dying cells, and in fetal DNA circulating in maternal blood. These fragments may contain segments from the entire human genome, but more specifically, Lander states:

“inspection of the publicly available DNA sequence data from two of these studies confirms that (as expected) the isolated fragments of fetal DNA in maternal blood cover the BRCA1 and BRCA2 genes and therefore include many of the isolated DNA fragments covered by Myriad’s patents.”

This may have diminished the significance of isolating a gene in the eyes of the Court.

IMPACT ON BIOTECHNOLOGY

A study published in March estimates that 41% of the genes in the human genome are patented in the US. However, many of these patents involve cDNA, and therefore may be unaffected by the Court’s ruling. Another study suggests that recent gene patent claims tend to avoid being similar to the ones struck down in AMP v. Myriad Genetics. Perhaps the patentability of cDNA may be sufficient to ensure profitability in the biotechnology industry.

Meanwhile, Myriad Genetics has already filed five patent infringement lawsuits against companiesthat have begun offering genetic diagnostic tests for BRCA gene mutations, based on their patents covering cDNA and methods-of-use related to the BRCA genes. Since the Court held that cDNA is patentable, and was not asked to rule on the validity of the method patents related to the BRCA genes, Myriad Genetics claims that these patents are still valid and that they maintain exclusivity over screening tests for BRCA mutations. Some of the companies being sued have proceeded to countersue Myriad Genetics and to seek a declaratory judgment.

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(Part II of the series will discuss gene patentability in Canada)

[1] AMP v. Myriad Genetics, 569 U.S. 12-398 (2013) at p.4