Christine Sevilla*, François Eisinger**, Jean-Paul Moatti*
Do gene patents linit the diffusion of genetic testing? The case of DNA tests for breast cancer susceptibility
* INSERM U379, Marseille, France
** E9939, Marseille, France
Introduction
Hereditary Breast/Ovarian Cancers (HBOC) are presently known to represent 5 to 10% of all breast/ovarian cancers and 84% of these hereditary forms are estimated to be due to deleterious mutations of the BRCA1/2 genes. The research based private firm, Myriad Genetics Inc., which has initially identified these two genes, and which has launched in 1996 the world�s first clinical test based on direct analysis of the DNA sequence of a gene, has obtained a recognition of its property rights by the US Patent & Trademark Office (USPTO). Consequently, all US physicians seeking genetic testing for mutations in BRCA1/2 to determine risk of breast cancer must send their patients’ samples to this private patent holder or to its licensees Costs charged to the patient or to her health care insurance are currently 2,400$ for diagnosis of BRCA1/2 deleterious mutations in the index case, and 395$ for testing of each subsequent person in the family. Myriad Genetics Inc. has claimed the extension of its patent rights to the member states of the European Union in order to introduce a similar procedure for breast cancer genetic screening in the health care system of these countries. One practical consequence would be that the diagnosis strategy currently used by Myriad Genetics Laboratories, the complete analysis of both genes (BRACAnalysis�,) by Direct DNA Sequencing (DS), would become the only available technical standard for breast cancer genetic screening. Alternative strategies using simpler techniques to scan the entire gene and to detect variants, in order to limit the region of the gene that will necessitate further characterization by DS, have however been experimented, on a routine basis, by various research and hospital laboratories world-wide.
Methods We performed a cost-effectiveness comparison of 20 technically available alternative strategies for BRCA1 mutation research to DS of the entire gene. The cost evaluation was based on a detailed observation of the different stages of each strategy in three French laboratories, and is presented in a theoretical population of 10,000 with a 15% probability of deleterious mutation for BRCA1, corresponding to the index case of an individual breast cancer patient with two antecedents of breast cancer cases in the family history.
Results Five strategies, using prescreening techniques, were found to be less expensive and more cost/effective than DS of the entire gene.
Conclusions Patents on human genetic materials allow private and academic research institutions to recover research and development costs. They also allow these organisations to become profitable by marketing exclusive rights to genetic testing. Economic theory however point out that the monopoly position that a patent guarantees to its private holder sometimes slows down the diffusion of innovations and of the associated gains in efficiency at the collective level. Our study shows that this negative impact is the case for BRCA1 diagnosis. The application of patent laws to the case of genes should – at minimum – limit the monopoly power of the patent holder who initially identified a gene.
International Association of Health Policy 