Today the U.S. Supreme Court will review a case about a company's ownership of human gene sequences. The issue, involving Myriad Genetics and patents related two cancer-linked molecules, BRCA1 and BRCA2, seems straightforward, so much so I considered not writing on it. After all, how could any patient advocate, no less one who's had breast cancer and practiced oncology, think that any individual, firm or university should enjoy exclusive use of naturally-occurring DNA sequences pertinent to human diseases? I know from my experience just how difficult it can be to get comprehensive and accurate genetic test results, to establish the correct diagnosis and treatment plan.
Of course SCOTUS should rule against the company -- and for the patients, pathologists and ACLU who charge that Myriad's patents are off-base. What's less obvious is why the suit, Association for Molecular Pathology v. Myriad Genetics, Inc, matters to so many. The court's decision will either extend or crimp the capacity of patients, doctors, researchers and other biotechnology firms, to use information about the human body to detect and treat other illnesses in the future.
The question, a matter of patent law, is detailed beautifully in a review by Daniel Kevles. The BRCA genes were identified nearly 20 years ago, when scientists reported the full sequences of the BReast Cancer genes BRCA1 and BRCA2. What's at issue, most immediately, are options for women and others, mainly those with a family history of breast or ovarian cancer, who want to understand their risk. Knowing the genetic details -- if she's got BRCA mutations on one or both chromosomes, and the precise nature of genetic abnormalities found -- would inform her cancer screening decisions. It might lead a woman to consider preemptive surgery to remove cancer-prone breasts and ovaries, or to participate in a clinical study of people who carry these mutations. A woman might prefer not to know her BRCA status, but that should be her choice.
As things stand, Myriad holds patents on the lab-generated versions of the two human DNA sequences. The company has patents, also, on tools for checking mutations in these genes. The firm's control over both the sequences and testing methods has made it difficult, if not impossible, for other researchers to develop alternative methods for evaluating BRCA1 and BRCA2, or to study how mutations in those genes cause illness. Today, if you want to know if you've got a BRCA mutation, your sample has to go to Myriad Genetics. No other company can do the test.
The ACLU has put forth a video in which a woman with ovarian cancer explains how the Myriad patent harmed her health. Her sister had breast cancer and was evaluated for BRCA mutations. Those test results were negative, and she thought she was "clear" -- that she had no mutation. As it turned out, the Myriad test didn't include all known BRCA aberrations; information on a "variant" mutation wasn't included in the company's single-brand, patented test at that time. Now, the woman has stage four ovarian cancer. She regrets that she didn't find out she had such a strong disposition to developing this kind of malignancy. The patent, in effect, lessened her capacity to make an informed medical decision.
And that's what's at the heart of this case. When a company, individual or university owns a genetic sequence, it hinders others' capacity to test for the same and glean additional information about it. This kind of restriction lessens the general pool of knowledge about potential, yet-to-be-discovered variant mutations and, possibly, other medical conditions related to the same gene. New models of research involve collaboration among large teams of scientists, clinicians, statisticians and others who, together, contribute to advancing medical science. Openness -- and sharing, is the new norm, or it should be.
At another level, the suit concerns competition and costs. Monopolies keep prices up. "Gene patents increase costs of and decrease access to genetic testing," said the Association for Molecular Pathology, in a January 2013 public commentary on the case.
There's a lot at stake here for patients, researchers and the biotech industry. And it's not just about the patenting of a few genes. Depending on how the justices word their opinion, the ruling may affect "ownership" of all kinds of natural human elements -- ranging from signaling molecules to receptor proteins and lipid structures in cell membranes.
Don't get me wrong. I'm not naïve about the value of industry. Patents on inventions -- like diagnostic tests and ways of manufacturing new drugs that depend on particular genes and molecules in cells -- can protect a company's interests so that a long research program, like developing a biological therapy and taking it through a clinical trial, is financially viable. But information about the genes and molecules, in themselves, should not be owned. Patents, like those of Myriad, limit patients' access to comprehensive information and stymie progress.
Perhaps the key is distinguishing what's intrinsic to nature -- be it a DNA sequence, an enzyme or a receptor found and described -- with methods and devices developed to exploit those same substances for the business or improving human health.
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