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

Abstract

Hereditary hemochromatosis (HH) 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 HH, which can be treated effectively if diagnosed early. Patents cover the HFE gene, related proteins, screening methods, and testing kits. Most initial testing for HH is biochemical, but HFE DNA 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 prior to the enforcement of patents. By 2007, however, Bio-Rad, Limited, acquired the key intellectual property and sub-licensed 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.

Case report of HFE gene testing for the diagnosis of hereditary hemochromatosis

“…Genetic testing has made the diagnosis of HH easier than before and five types of HH are now recognized, each caused by mutations in the different genes involved in iron metabolism 4 . Because the patient lacks a natural way to reduce it, as time passes the excess iron results in organ damage, particularly in the heart, liver and pancreas 5 . Finally, hemochromatosis can even lead to death, usually through heart or liver failure.…”

“…4 Because the patient lacks a natural way to reduce it, as time passes the excess iron results in organ damage, particularly in the heart, liver and pancreas. 5 Finally, hemochromatosis can even lead to death, usually through heart or liver failure. If we are able to make increasingly early diagnosis the classic complications of HH such as cirrhosis, bronze skin and diabetes will be rarer in adult-onset HH.…”

Examining the Clinical Use of Hemochromatosis Genetic Testing

“…The cost of genetic testing for hemochromatosis has not changed substantially in the past decade despite immense improvements in genotyping technology. The cost of DNA extraction and singlenucleotide genotyping in a high-throughput research environment has plummeted, but because overhead costs, data storage and data integrity issues have remained constant, cost estimates from $150 to $500 per test have persisted (15).…”

Patents in Genomics and Human Genetics

“…Eight case studies addressed ten clinical conditions selected by the committee to be informative (14, 40–42, 48, 55, 175, 195). Table 1 summarizes the findings from those case studies.…”