International Journal of Technology Assessment in Health Care



GENERAL ESSAYS

IMPACT OF GENE PATENTS ON THE COST-EFFECTIVE DELIVERY OF CARE: THE CASE OF BRCA1 GENETIC TESTING


Christine Sevilla a1, Claire Julian-Reynier a2, François Eisinger a3, Dominique Stoppa-Lyonnet a4, Brigitte Bressac-de Paillerets a5, Hagay Sobol a6 and Jean-Paul Moatti a7
a1 INSERM Unit 379
a2 INSERM Unit 379
a3 INSERM Unit 379, Epi 9939, Paoli-Calmettes Institute
a4 Curie Institute
a5 Gustave Roussy Institute
a6 INSERM Epi 9939, Paoli-Calmettes Institute
a7 INSERM Unit 379

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 °) 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.


Key Words: Cost-effectiveness analysis; Breast cancer; BRCA1; BRCA2; Mutation; Heredity; Family; Genetic testing; Gene patenting.