Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.

Hereditary hemochromatosis is an iron metabolism disorder that leads to excess iron buildup, especially in the heart, liver, and pancreas. Mutations in the HFE gene are the single most common cause of hereditary hemochromatosis, which can be treated effectively if diagnosed early. Patents cover the HFE gene, related proteins, screening methods, and testing kits. Most initial testing for hereditary hemochromatosis is biochemical, but HFE deoxyribonucleic acid testing or genotyping is used to confirm a diagnosis of inherited hemochromatosis. Concerns over patents covering HFE testing emerged in 2002, when scholars argued that exclusive licensing and the patent-enabled sole provider model then in place led to high prices and limited access. Critics of the sole provider model noted that the test was available at multiple laboratories before the enforcement of patents. By 2007, however, Bio-Rad Limited, acquired the key intellectual property and sublicensed it widely. In part because of broad, nonexclusive licensing, there are now multiple providers and testing technologies, and research continues. This case study illustrates how both changes in intellectual property ownership and evolving clinical utility of HFE genetic testing in the last decade have effected the licensing of patents and availability of genetic testing.