By Anne McDonnell Sill
11:10 AM EDT, June 27, 2013
Nina, a resident of East Baltimore, celebrated her 41st birthday last Sunday. Surrounded by family and friends, she struggled for breath to extinguish the candles on her cake. Two years ago Nina was diagnosed with breast cancer. Genetic testing and prophylaxis might have prevented her illness, but unlike actress Angela Jolie, her financial resources did not allow her to take the $3,400 test. Now Nina suffers from the same disease that took the life of her mother when she was in her 40s, and her older sister, who died at the age of 34 from breast and ovarian cancer. With 11 chemotherapy infusions and two blood transfusions behind her, this wife and mother of two young daughters faces formidable odds. This is the sad result of a biomedical Wild West marketplace fiercely competing for the promise that genomic advances hold for the discovery and development of new therapies.
Until very recently, a Salt Lake City corporation, Myriad Genetics, Inc., held the exclusive patent for the breast cancer (BrCa) genomic sequence, a naturally derived product, which they used to create an analog leading to the development and sole proprietorship of a diagnostic BrCa test. With no competition, Myriad was free to establish its cost. Myriad's entrepreneurial effort is the result of a pattern launched by the biotechnology boom of the 1980s and 1990s. The productivity of the Human Genome Project incentivized private biotechnology companies to rapidly apply for and take gene sequences hostage for their own financial gain. The products born from these efforts are used not only to detect disease but also to develop therapeutic products such as drugs that target the precise gnomic sequence of cancer cells.
Nina, whose last name I've withheld to protect her confidentiality, pleaded for access to the BrCA test. When she consulted with her physician in 2010 she learned that given her family history, she had an 87 percent lifetime risk of developing breast cancer and an up to 60 percent lifetime risk of ovarian cancer. A prophylactic mastectomy, like the procedure recently undergone by Ms. Jolie, could have reduced the risk of breast cancer to 5 percent. But Nina could not afford the BrCa test, and without a positive result from it, no insurance company would cover the mastectomy. Three months after her doctor's visit she discovered a lump in her breast.
It is said that 20 percent of the human genome has been patented, and the number of academic, ethical, political and legal debates has run parallel with the number of genes patented. For good reason. "Nobody invents genes, so no one should be able to claim ownership of them," said Daniel B. Ravicher, executive director of Public Patent Foundation. "We are not talking about a new drug or a new tool to fight cancer. We are talking about a genetic marker that occurs naturally in the human body. That cannot, and should not, be patented."
This view received confirmation by the Supreme Court's 9-0 decision on June 13 in the case Association for Molecular Pathology vs. Myriad Genetics, despite concerns that denying patent rights would inhibit investments by other biotechnology companies and limit the progress of scientific research. The court upheld patenting for complementary DNA, or cDNA, which is synthetically produced in the laboratory.
Six hours after the announcement of the court's decision, Myriad's stock plunged by 10.5 percent, and another 11 percent the next day. Another commercial genetic testing giant, GeneDx, announced their intention, given the court's ruling, to "launch a suite of comprehensive genetic tests for inherited cancers including BRCA1 and BRCA2 genes." Although GeneDx has not yet announced the cost of these tests, a fair and competitive playground has finally been established so that women like Nina may be able to afford that crucial test.
As stock investors and biotechnology corporations vie for opportunities to invest and patent, Nina struggles with breast cancer. Her opportunity for prophylaxis was stolen from her.
Anne McDonnell Sill of Baltimore is a researcher in the Division of Biostatistics and Study Methodology at the Children's National Medical Center. Her email is firstname.lastname@example.org. The views expressed are hers and don't necessarily reflect those of the medical center.
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