There has been much controversy recently regarding whether it is legal for human genes to be patented. Although approximately 20 percent of all human genes have been patented over the past 30 years, the patenting of BRCA1 and BRCA2 genes by the biotech company Myriad Genetics has resulted in a landmark opportunity for the Supreme Court to reassess whether a patent on any human gene is legal. Last November, the Supreme Court accepted to review claims against the BRCA1 and BRCA2 patents in the case now known as Association of Molecular Pathology v. U.S. Patent and Trademark Office.
BRCA1 and BRCA2 genes (especially BRCA1) have been linked to hereditary breast and ovarian cancer. Of the women who have a deleterious mutation in BRCA1, 50 to 65 percent will develop breast cancer by age 70, and 35 to 46 percent will develop ovarian cancer by age 70. Myriad Genetics discovered the chromosomal locations of BRCA1/2, applied for seven patents for these two genes in 1997 and 1998 and received them all in 2001.
Myriad does not technically hold patents on the naturally occurring genes in the body, as a product is only patentable if it is “markedly different” from a product of nature or is a new composition of matter. Rather, Myriad’s BRCA1 and BRCA2 patents are for the isolated DNA of the genes, fragments for the genes to be used as probes for sequence identity and a diagnostic test comparing an individual’s genetic sequence with known mutations and variants associated with breast and ovarian cancer.
These patents provide Myriad with the right to exclude all researchers, clinicians and companies from using their “invention” — only Myriad can conduct the BRCA1 and BRCA2 diagnostic test and disclose the results of the test to a patient. Because of this monopoly, Myriad charges $3500 for the diagnostic test, which some health insurances will not cover. Furthermore, a patient cannot ask for a second opinion because Myriad claims that their diagnostic test is the “gold standard,” and it is illegal for clinicians and researchers to develop new diagnostic tests or even evaluate the accuracy of Myriad’s test.
There are many stakeholders in this legal case: on the one hand, patients do not have proper ownership over their own medical information, and other researchers who are investigating BRCA1 and BRCA2 may be forced to halt their research due to issues with violating Myriad’s patents.
On the other hand, one could argue that Myriad may not have identified the diagnostic importance of the BRCA1 and BRCA2 genetic sequences in the first place without knowing that they could patent their discoveries, as holding the patents provides security for the substantial monetary investments in this research. Additionally, patents in general create incentive to develop products commercially, which would be necessary, for example, for a pharmaceutical company that needs to conduct clinical trials with a drug but does not want any other companies to generate the drug in the meantime.
It is also worth noting that gene sequencing technologies are actually cheaper than Myriad’s diagnostic test, so any trained scientist could hypothetically sequence BRCA1 and BRCA2 in an individual’s DNA and compare this to the published sequences readily available online. However, only Myriad Genetics holds the information regarding what the appropriate disease variants of these sequences are, and it has not even been confirmed that the research on these variants is scientifically sound. The nature of scientific research is to have a transparent, peer-reviewed evaluation of any discoveries, and the patents have gotten in the way of this entire process, destroying the foundation of how research is conducted and validated.
In addition, the American Civil Liberties Union has claimed that holding a monopoly on the BRCA1 and BRCA2 diagnostic test denies patients of fundamental information and violates the First Amendment. In today’s society, there should be no question regarding whether a patient should have the right to all of his or her medical information using the best diagnostic tools available.
It seems unfair that there has been so much time and money spent debating this issue instead of focusing these efforts on diagnosing the cancers themselves. Still, companies like Myriad Genetics have the right to make a profit from their research, and holding patents would be an appropriate route to protect their investments for 20 years. This case has become so notorious, though, because the genes in question have been linked to breast and ovarian cancer, two of the most common types of cancer diagnosed in women.
The Supreme Court should decide that different rules need to apply in these situations where human health is at risk, and thus genes that can be used as cancer diagnostic tools should not be patented. This is the only way to provide universal patient accessibility to these tests by offering them at a reasonable cost.
It is safe to say, however, that no matter the outcome, the case will have had an unprecedented effect on the world of gene patenting.