title: Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis.
abstract: Cystic fibrosis is one of the most commonly tested autosomal recessive disorders in the United States. Clinical cystic fibrosis is associated with mutations in the CFTR gene, of which the most common mutation among Caucasians, DeltaF508, was identified in 1989. The University of Michigan, Johns Hopkins University, and the Hospital for Sick Children, where much of the initial research occurred, hold key patents on cystic fibrosis genetic sequences, mutations, and methods for detecting them. Several patents, including the one that covers detection of the DeltaF508 mutation, are jointly held by the University of Michigan and the Hospital for Sick Children in Toronto, with Michigan administering patent licensing in the United States. The University of Michigan broadly licenses the DeltaF508 patent for genetic testing with >60 providers of genetic testing to date. Genetic testing is now used in newborn screening, diagnosis, and for carrier screening. Interviews with key researchers and intellectual property managers, a survey of laboratories' prices for cystic fibrosis genetic testing, a review of literature on cystic fibrosis tests' cost-effectiveness, and a review of the developing market for cystic fibrosis testing provide no evidence that patents have significantly hindered access to genetic tests for cystic fibrosis or prevented financially cost-effective screening. Current licensing practices for cystic fibrosis genetic testing seem to facilitate both academic research and commercial testing. More than 1000 different CFTR mutations have been identified, and research continues to determine their clinical significance. Patents have been nonexclusively licensed for diagnostic use and have been variably licensed for gene transfer and other therapeutic applications. The Cystic Fibrosis Foundation has been engaged in licensing decisions, making cystic fibrosis a model of collaborative and cooperative patenting and licensing practice.
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: Christopher
authors.initials: C
authors.lastname: Heaney
authors.forename: Tamara
authors.initials: T
authors.lastname: James
authors.forename: Chris
authors.initials: C
authors.lastname: Conover
authors.forename: Robert
authors.initials: R
authors.lastname: Cook-Deegan
mesh_terms: D003362:Cost-Benefit Analysis; D003550:Cystic Fibrosis / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D005796:Genes; D005820:Genetic Testing; D017048:Health Care Costs; D006297:Health Services Accessibility; D006801:Humans; D007231:Infant, Newborn; D008004:Licensure; D008297:Male; D009154:Mutation; D010330:Patents as Topic; D011247:Pregnancy; D019836:Preimplantation Diagnosis
references.citation: Am J Hum Genet. 1987 Mar;40(3):228-36
references.pmid: 3472464
references.citation: Science. 1989 Sep 8;245(4922):1066-73
references.pmid: 2475911
references.citation: Nature. 1987 Apr 30-May 6;326(6116):840-5
references.pmid: 2883581
references.citation: Am J Hum Genet. 1956 Sep;8(3):177-89
references.pmid: 13362225
references.citation: Interact Cardiovasc Thorac Surg. 2004 Mar;3(1):21-4
references.pmid: 17670168
references.citation: J Pediatr. 1998 Apr;132(4):589-95
references.pmid: 9580754
references.citation: Pediatrics. 2001 Jan;107(1):1-13
references.pmid: 11134427
references.citation: Am J Hum Genet. 1956 Sep;8(3):162-76
references.pmid: 13362224
references.citation: Genet Med. 2007 Nov;9(11):739-44
references.pmid: 18007142
references.citation: Lancet. 1991 Mar 16;337(8742):631-4
references.pmid: 1671990
references.citation: Science. 1989 Sep 8;245(4922):1073-80
references.pmid: 2570460
references.citation: Genet Med. 2004 Sep-Oct;6(5):387-91
references.pmid: 15371902
references.citation: Chest. 2004 Jan;125(1 Suppl):1S-39S
references.pmid: 14734689
references.citation: Community Genet. 2007;10(2):103-9
references.pmid: 17380060
references.citation: J Pediatr. 2006 Sep;149(3):362-6
references.pmid: 16939748
references.citation: Med Decis Making. 1998 Apr-Jun;18(2):202-12
references.pmid: 9566453
references.citation: Obstet Gynecol. 2005 Dec;106(6):1465-8
references.pmid: 16319281
references.citation: Am J Hum Genet. 1998 Oct;63(4):1160-74
references.pmid: 9758600
references.citation: N Engl J Med. 2007 Nov 22;357(21):2143-52
references.pmid: 18032764
references.citation: Genet Med. 2008 Dec;10(12):851-68
references.pmid: 19092437
references.citation: MMWR Recomm Rep. 2004 Oct 15;53(RR-13):1-36
references.pmid: 15483524
references.citation: Am J Hum Genet. 1988 Nov;43(5):645-63
references.pmid: 2903665
references.citation: Science. 1985 Nov 29;230(4729):1054-7
references.pmid: 2997931
references.citation: Eur J Hum Genet. 2007 Jul;15(7):752-8
references.pmid: 17440499
references.citation: Genet Med. 2002 Sep-Oct;4(5):379-91
references.pmid: 12394352
references.citation: Science. 1989 Sep 8;245(4922):1059-65
references.pmid: 2772657
references.citation: Genet Med. 2010 Apr;12(4 Suppl):S15-38
references.pmid: 20393305
references.citation: Genet Med. 2001 Mar-Apr;3(2):149-54
references.pmid: 11280952
references.citation: Annu Rev Genomics Hum Genet. 2005;6:237-60
references.pmid: 16124861
references.citation: Arch Intern Med. 1999 Jul 26;159(14):1529-39
references.pmid: 10421275
references.citation: Nature. 1985 Nov 28-Dec 4;318(6044):382-4
references.pmid: 3906407
references.citation: Nat Biotechnol. 2006 Jan;24(1):31-9
references.pmid: 16404390
references.citation: Nature. 1985 Nov 28-Dec 4;318(6044):384-5
references.pmid: 2999612
references.citation: Prenat Diagn. 1999 Nov;19(11):1048-51
references.pmid: 10589057
references.citation: Am J Hum Genet. 1986 Dec;39(6):720-8
references.pmid: 3467587
references.citation: Nature. 1985 Nov 28-Dec 4;318(6044):380-2
references.pmid: 2999611