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The paper by researchers from Stanford and the University of Pennsylvania raises questions about the current patent system, which gives a government-sanctioned monopoly for a limited time to those who first discover a gene for a human disease.
At issue are patents on the most common genetic mutations linked to hereditary hemachromatosis or iron overload, a surprisingly common and easily treatable disorder that can cause fatal damage to the heart and liver.
The patents are held by Bio-Rad Laboratories in Hercules, which sells a genetic testing kit for the disease and is pressing laboratories to pay licensing fees and royalties if they want to continue using tests of their own.
John Hertia, manager of Bio-Rad's diagnostics unit, says the company has licensed a number of laboratories to develop their own tests for fees that are reasonable. ``Our charges are surprisingly low relative to the expense of discovery itself and of development of the test,'' Hertia said.
Labs charge between $175 and $350 for the genetic test, said Hertia, who will not reveal what Bio-Rad is charging laboratories.
But the authors of the Nature paper, including Mildred Cho of Stanford's Center for Biomedical Ethics, found that labs were paying about $20 per test plus upfront fees that decrease with the volume of testing.
Several of the 128 laboratories surveyed either stopped doing their own tests for the disease or decided not to develop tests because of the patents.
Hereditary hemachromatosis may affect as many as one out of every 200 people of northern European descent, and smaller numbers from other ethnic groups.
Patients with the disease build up high levels of iron that slowly infiltrate vital organs, but the damage can be stopped by regularly removing blood, weekly at first to get iron levels down to normal and then every few months to keep them there.
In the early 1990s, a team from Mercator Genetics in Menlo Park won the race to find the gene responsible for the hereditary disease and patented the discovery. Another Menlo Park company, Progenitor, acquired Mercator in 1998 and sold the patent rights to Bio-Rad the next year.
How valuable the patent will be depends on how widely the test is used. The American Hemachromatosis Society, a patient advocacy group, has called for universal childhood screening.
``They need to charge something reasonable so that people can have this testing,'' said David Snyder, the society's executive director.
Even the federal government, which is sponsoring a study to test 100,000 individuals for the disease, cannot escape the royalties. Dr. John Eckfeldt of the University of Minnesota, principal investigator of the study, said that because the gene was discovered by a private company, government lawyers concluded the National Institutes of Health would have to pay Bio-Rad a license fee and royalties. Under the terms of the contract, Eckfeldt said, the amount is confidential.