Myriad Genetic Laboratories, the Utah-based company that owns the patents on the breast and ovarian cancer susceptibility genes BRCA1 and BRCA2, has struck a deal with the US National Institutes of Health (NIH) for cut-rate prices on its gene tests in exchange for research data. Myriad might be hoping that its action goes some way toward defusing criticism of the company regarding its management of the BRCA-testing business.
Myriad charges $2,580 for patient-requested BRCA DNA sequencing and mutation analysis (BRCA gene mutations are estimated to cause 710% of all breast and ovarian cancers). However, it is licensing the sequencing service to NIH scientists country-wide for $1,200 per person on the condition that the tests are done for research purposes. The price cut is expected to spur studies of BRCAenvironment interactions, the pathological effects of specific BRCA mutations and how BRCA mutations may correlate with cancer treatment outcomes.
It should also improve understanding of the penetrance of BRCA mutations: women with a family history of breast cancer who also have BRCA mutations are at increased risk of the disease. But Jan Platner, director of Programs for the National Breast Cancer Coalition (NBCC), says it is not as clear what the risks are for women with the same mutations but who do not have familial predisposition to breast cancer. NBCC feels Myriad's marketing of BRCA testing has been too aggressive in light of the incomplete understanding of the prognostic meaning of BRCA mutations.
Medical geneticists have seethed for years over the high costs of tests for some patented genes and the restrictions on who may perform them. Myriad's enforcement of its patent rightsin 1999, it forced University of Pennsylvania researcher Arupa Ganguly to stop offering BRCA testscoupled with the company's high prices, has made Myriad a particular target of medical geneticists' ire.
But Gregory Critchfield, Myriad's president, argues that critics overlook the expense of sequencing both strands of two exceptionally large genes (combined totaling 17,500 base pairs) in which more than a thousand mutations have been found. He says that Myriad reserves sequencing for itself in part for quality-control reasons; only 13 laboratories are licensed for follow-up, and cheaper, analysis of mutations that Myriad identifies. Ganguly declined the offer of a follow-up license.
Moreover, Critchfield insists that geneticists' fear that high prices prevent people from getting needed tests is groundless in the case of BRCA: Insurers recognize their life-saving value and do not balk at paying for them, he says. But Debra Leonard, president of the Association for Molecular Pathology, feels the time has come to put an end to restrictions on their ability to do genetic testing. The group will ask Congress for a law freeing them from liability for patent infringement if they offer diagnostic tests for patented genes.
Within recent weeks, the company has been awarded two further BRCA-related patents: one for the CtIP gene, which suppresses breast and ovarian tumor growth through its interaction with the BRCA1 gene; and another patent extending Myriad's diagnosis and prognosis position on cancers caused by mutation of the BRCA2 gene.