Myriad owns the patents on BRCA1 and BRCA2. Women who want to be tested for mutations in these genes must use the Myriad test, which costs about $3,000 and is not always covered by insurance. Image: Wikimedia Commons/National Cancer Institute
The Supreme Court is due to rule by the end of June on the landmark question of whether companies have the right to patent genes.
Since then, thousands of genes have been patented.
Opponents argue that genes are products of nature, which cannot be patented. Myriad counters that when researchers "discover" genes and patent them, these genes are isolated from the human genome, and therefore can be patented. The benefits that patents bring (a temporary market monopoly) provide incentive and funding for researchers to "discover" genes in the first place, Myriad says.
A big concern about gene patents is that they hinder genetic research — once one company has patented a gene, other researchers may fear infringing on that patent by conduct further research on it, the argument goes. But outside the world of research, the ruling will also have effects on patients, critics argue. Here are four effects of gene patents on patients:
Access to genetic testing
Some say gene patents restrict access to genetic testing, and in some cases, prevent patients from being tested at all. For instance, because Myriad owns the patents on BRCA1 and BRCA2, women who want to be tested for mutations in these genes must use the Myriad test, which costs about $3,000 and is not always covered by insurance.
If for some reason a company that owns a gene patent stops providing the test for it, patients may not be able to get the test at all. For instance, although the University of Utah Research Foundation patented a gene linked with the condition Long QT syndrome, it was not able to offer a test for the condition for a two-year period, according to a 2009 brief filed by the American Medical Association in support of the plaintiff in the gene patent case. (Long QT syndrome is a heart condition that can cause irregular heartbeats, and in some cases, sudden death.) In that period, other labs were prohibited from offering the test, and at least one person died from undiagnosed Long QT syndrome, the brief says.
Getting a second opinion
Myriad's patents on BRCA1 and BRCA2 have prevented patients from getting a second opinion about their test results, critics argue. For instance, a plaintiff in the Supreme Court case, Ellen T. Matloff of Yale Cancer Center, said that in 2006 she knew of a patient who had had breast and ovarian cancer who tested negative for BRCA1 and BRCA2, suggesting that this patient's cancers were not the result of a hereditary condition, according to the New York Times.
But when Yale researchers requested to retest the patient for mutations the Myriad test might have missed, they were prohibited from doing so, the Times reported. Later, the patient's daughter developed breast cancer.
Myriad eventually introduced another test to look for mutations their earlier test missed.
Myriad's patents also prevent researchers from improving the genetic test for mutations in BRCA1 and BRCA2, and offering an independent test to confirm Myriad's results, the AMA brief says.
"As a result, women may have their breasts or ovaries removed unnecessarily when they received a false positive on a BRCA1 or BRCA 2 test because they do not have access to an independent confirmatory test," the brief says.