A number of U.S. laboratories have stopped testing patients for hemochromatosis -- the single most common genetic disease -- because of the cost of the patent-licensing fees.
Researchers say this is a cautionary tale, demonstrating that the promise of genetic testing is being undermined by corporate greed, and that measures need to be taken to ensure reasonable access to genetic breakthroughs.
Writing in today's edition of the journal Nature, Jon Merz of the Center for Bioethics at the University of Pennsylvania, says that companies should be entitled to a reasonable return on their investment, but patenting should not deny patients practical access to testing. He said there is growing evidence this is happening.
"Our data highlight several concerns that have been expressed about patents on biotechnology discoveries," Dr. Merz said.
In addition to the cost of testing patients, the researcher said that companies are now withholding the release of genetic discoveries until they can secure patents.
In the case of hemochromatosis, Dr. Merz said, discovery of the gene in 1996 resulted in almost immediate access to testing. Until recently, the owner of the patent, Bio-Rad Laboratories, had enforced it only sporadically.
Now, however, academic laboratories are being charged an up-front fee of $25,000 (U.S.), and commercial laboratories must pay up to five times this amount; also, they must pay a royalty of up to 20 per cent of the cost of the test.
Paul Adams, a gastroenterologist at the London Health Sciences Centre and one of the world's leading experts on hemochromatosis, said to date Canadian authorities have rebuked the company's attempts to collect fees by offering the test for free.
"The position here has been that 20 per cent of zero is zero," he said.
But in the United States, at least one-third of labs have stopped testing, and more could follow suit.
Hemochromatosis is a disease in which iron overload in the body leads to damage of the liver, heart, pancreas and thyroid. Until the genetic test was made available, most people did not discover the condition until it had caused them serious health problems.
Hemochromatosis is autosomal recessive, meaning both parents must carry the gene, and an affected person has two copies of the gene. It affects about one in 300 people of northern European descent, which includes people from France, Ireland, Britain, Germany and Scandinavia.
Dr. Adams said the issue of the cost of testing could really heat up in the near future. He is leading an international study to determine if there should be universal screening for hemochromatosis. In Canada, that would mean that all 400,000 newborns a year would be tested, and patent fees could have a substantial bearing on the cost.
Hemochromatosis is not the only condition where there is a fierce debate about the cost of patent fees and the effect on testing.
The Ontario government is locked in a battle with Myriad Genetics Inc., which holds a patent on a breast-cancer gene and on the process of comparing a woman's gene to that standard.
The company wants to charge patients $4,000 per test. B.C. stopped testing for the gene, but Ontario has flatly refused to pay and hired another company that is charging $800 per test.
These skirmishes, however, are part of a larger debate, with a growing number of scientists and ethicists arguing that genes should not be patented at all.