Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis

Subhashini Chandrasekharan, Christopher Heaney, Tamara James, Chris Conover, Robert Cook-Deegan

Research output: Contribution to journalReview article

17 Citations (Scopus)

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, ΔF508, 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 ΔF508 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 ΔF508 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.

Original languageEnglish (US)
JournalGenetics in Medicine
Volume12
Issue number4 SUPPL.
DOIs
StatePublished - Apr 2010
Externally publishedYes

Fingerprint

Patents
Genetic Testing
Licensure
Cystic Fibrosis
Genes
Mutation
Research
Intellectual Property
Cost-Benefit Analysis
Decision Making
Research Personnel
Newborn Infant
Interviews
Costs and Cost Analysis

Keywords

  • CFTR
  • Cystic fibrosis
  • Hospital for Sick Children
  • Intellectual property
  • Patents
  • University of Michigan
  • University of Toronto

ASJC Scopus subject areas

  • Genetics(clinical)

Cite this

Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis. / Chandrasekharan, Subhashini; Heaney, Christopher; James, Tamara; Conover, Chris; Cook-Deegan, Robert.

In: Genetics in Medicine, Vol. 12, No. 4 SUPPL., 04.2010.

Research output: Contribution to journalReview article

Chandrasekharan, Subhashini ; Heaney, Christopher ; James, Tamara ; Conover, Chris ; Cook-Deegan, Robert. / Impact of gene patents and licensing practices on access to genetic testing for cystic fibrosis. In: Genetics in Medicine. 2010 ; Vol. 12, No. 4 SUPPL.
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