title: Impact of gene patents on the cost-effective delivery of care: the case of BRCA1 genetic testing.
abstract: BACKGROUND
  In 1994/95, two genes, BRCA1/2, associated with a predisposition to breast or ovarian cancer were identified. Genetic testing of deleterious BRCA1/2 mutations consequently can be proposed to individuals with a family history of breast or ovarian cancer to identify who is at risk. The granting of U.S. patents on BRCA1/2 to a privately owned company has led to the monopoly use of a unique technique (Direct Sequencing of the gene, DS) for BRCA1/2 testing in this country. Alternative strategies using prescreening techniques, however, have been experienced worldwide.
  
  
  METHODS
  On the basis of data collected at three laboratories of French public hospitals, we carried out a cost-effectiveness study comparing DS to 19 alternative strategies with the number of deleterious BRCA1 mutations detected as the outcome.
  
  
  RESULTS
  Results show that the DS strategy presents the highest average cost per mutation detected (9,882.5 Euro) and that there exist strategies using prescreening techniques that can reach similar effectiveness while reducing total costs. Moreover, other strategies can obtain a four- to sevenfold reduction in the average cost per mutation detected as soon as some rates of false negatives (2% to 13%) are deemed to be acceptable.
  
  
  CONCLUSIONS
  Results suggest that gene patents with a very broad scope, covering all potential medical applications, may prevent health care systems from identifying and adopting the most efficient genetic testing strategies due to the monopoly granted for the exploitation of the gene. Policy implications for regulatory authorities, in the current context of the extension of BRCA1/2 patents in other countries, are discussed.
authors.affiliation: National Institute for Health and Medical Research, INSERM Unit 379, Institut Paoli-Calmettes, Marseilles, France.
authors.forename: Christine
authors.initials: C
authors.lastname: Sevilla
authors.forename: Claire
authors.initials: C
authors.lastname: Julian-Reynier
authors.forename: François
authors.initials: F
authors.lastname: Eisinger
authors.forename: Dominique
authors.initials: D
authors.lastname: Stoppa-Lyonnet
authors.forename: Brigitte
authors.initials: B
authors.lastname: Bressac-de Paillerets
authors.forename: Hagay
authors.initials: H
authors.lastname: Sobol
authors.forename: Jean-Paul
authors.initials: JP
authors.lastname: Moatti
mesh_terms: D001943:Breast Neoplasms / Q000175:diagnosis / Q000235:genetics*; D003362:Cost-Benefit Analysis; D004252:DNA Mutational Analysis / Q000191:economics* / Q000379:methods*; D003695:Delivery of Health Care / Q000191:economics*; D005260:Female; D005602:France; D019398:Genes, BRCA1; D005820:Genetic Testing / Q000191:economics* / Q000379:methods*; D006779:Hospitals, Public / Q000191:economics; D006801:Humans; D007755:Laboratories, Hospital / Q000191:economics; D010051:Ovarian Neoplasms / Q000175:diagnosis / Q000235:genetics*; D010330:Patents as Topic / Q000331:legislation & jurisprudence*; D012680:Sensitivity and Specificity