title: Impact of gene patents and licensing practices on access to genetic testing for hereditary hemochromatosis.
abstract: 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.
authors.affiliation: Center for Public Genomics, Center for Genome Ethics, Law and Policy, Institute for Genome Sciences and Policy, Duke University, Durham, NC 27708, USA. shubha.c@duke.edu
authors.forename: Subhashini
authors.initials: S
authors.lastname: Chandrasekharan
authors.forename: Emily
authors.initials: E
authors.lastname: Pitlick
authors.forename: Christopher
authors.initials: C
authors.lastname: Heaney
authors.forename: Robert
authors.initials: R
authors.lastname: Cook-Deegan
mesh_terms: D005796:Genes; D005820:Genetic Testing; D006297:Health Services Accessibility; D006432:Hemochromatosis / Q000175:diagnosis* / Q000235:genetics; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I / Q000235:genetics*; D006801:Humans; D008004:Licensure; D008565:Membrane Proteins / Q000235:genetics*; D009154:Mutation; D010330:Patents as Topic
chemical_list: C103673:HFE protein, human; D000071020:Hemochromatosis Protein; D015395:Histocompatibility Antigens Class I; D008565:Membrane Proteins
references.citation: Nat Genet. 1996 Nov;14(3):249-51
references.pmid: 8896549
references.citation: Public Health Rep. 1983 Mar-Apr;98(2):107-9
references.pmid: 6856733
references.citation: J Clin Gastroenterol. 1998 Jul;27(1):41-6
references.pmid: 9706768
references.citation: N Engl J Med. 2005 Apr 28;352(17):1769-78
references.pmid: 15858186
references.citation: Genet Med. 2006 Nov;8(11):681-7
references.pmid: 17108759
references.citation: Ann Intern Med. 2006 Aug 1;145(3):209-23
references.pmid: 16880463
references.citation: Hepatology. 2000 May;31(5):1192-3
references.pmid: 10796897
references.citation: Best Pract Res Clin Haematol. 2005 Jun;18(2):203-20
references.pmid: 15737885
references.citation: Nat Genet. 1996 Aug;13(4):399-408
references.pmid: 8696333
references.citation: Blood. 2008 May 1;111(9):4456-62
references.pmid: 18316631
references.citation: Arch Intern Med. 2006 Feb 13;166(3):294-301
references.pmid: 16476869
references.citation: J Biol Chem. 2001 Mar 16;276(11):7806-10
references.pmid: 11113131
references.citation: Am J Gastroenterol. 2002 Aug;97(8):2093-9
references.pmid: 12190182
references.citation: Hepatology. 2000 May;31(5):1160-4
references.pmid: 10796893
references.citation: Ann Intern Med. 2003 Apr 15;138(8):627-33
references.pmid: 12693884
references.citation: Biometals. 2004 Apr;17(2):135-9
references.pmid: 15088940
references.citation: Nat Genet. 1996 Nov;14(3):251-2
references.pmid: 8896550
references.citation: Ann Intern Med. 1998 Dec 1;129(11):925-31
references.pmid: 9867744
references.citation: Clin Genet. 2007 Jan;71(1):46-58
references.pmid: 17204047
references.citation: Ann Intern Med. 1998 Dec 1;129(11):987-92
references.pmid: 9867752
references.citation: Ann Intern Med. 2005 Oct 4;143(7):517-21
references.pmid: 16204164
references.citation: Hepatology. 2006 Aug;44(2):472-7
references.pmid: 16871557
references.citation: US News World Rep. 2007 Jan 8;142(1):50-4, 57-8
references.pmid: 17225550
references.citation: Am J Med. 2007 Nov;120(11):999.e1-7
references.pmid: 17976429
references.citation: Ann Intern Med. 2000 Feb 15;132(4):261-9
references.pmid: 10681280
references.citation: Nature. 2002 Feb 7;415(6872):577-9
references.pmid: 11832913
references.citation: FEBS Lett. 2000 Sep 1;480(2-3):147-50
references.pmid: 11034317
references.citation: Clin Chem. 2005 Jun;51(6):1048-52
references.pmid: 15833784
references.citation: Am J Med. 2006 May;119(5):391-9
references.pmid: 16651049
references.citation: Am J Gastroenterol. 1999 Jun;94(6):1593-600
references.pmid: 10364030
references.citation: Ann Intern Med. 2008 Aug 19;149(4):270-2
references.pmid: 18711158
references.citation: Hepatology. 2008 Sep;48(3):991-1001
references.pmid: 18752323
references.citation: Hematology. 2005 Apr;10(2):145-9
references.pmid: 16019461
references.citation: N Engl J Med. 2008 Jan 17;358(3):221-30
references.pmid: 18199861
references.citation: Immunogenetics. 2002 Mar;53(12):1002-8
references.pmid: 11904676
references.citation: Ann Intern Med. 2005 Oct 4;143(7):522-36
references.pmid: 16204165
references.citation: Nat Genet. 1996 May;13(1):1-5
references.pmid: 8673083
references.citation: J Fam Pract. 2007 Oct;56(10):829-34
references.pmid: 17908514