A. Barriers for entry: Patients

From a business standpoint, the time and money spent doing research into finding a specific gene is immense. For example Mercator which found the gene linked to HFE, went out of business due to the costs of research which reached $10,000,000 (John F. Merz, et al 2002). This in and of itself would be an argument for these companies receiving a windfall for their efforts, if it wasnít for the fact that the patent for HFE testing was in limbo until their business situation was resolved. During this time even if a lab wanted to pay licensing fees and test for the disease they were unable to because no one knew who really owned the patent. This delay did not result in any reports of patient deaths, but these types of business upheavals have contributed to patient deaths in the past.

Long QT Syndrome (LQTS) is a heart rhythm disorder that can cause fast, chaotic heartbeats. These erratic heartbeats may go on for so long that it can cause sudden death. According to an amicus brief filed in support of the plaintiffs in the Myriad lawsuit, a gene found to be linked to LQTS was discovered and patented by the University of Utah research foundation. The company in control of this patent went through corporate upheavals for two years. During this time the company did not offer diagnostic testing for LQTS. Other labs had the capability to offer the test but due to the patents they were forbidden to. Based on statements by Dr. Marc Grodman at a congressional hearing in 2007, this delay resulted in the death of a 10 year old patient with undiagnosed LQTS. If the testing had been available the patientís death may have been preventable. (The Association for Molecular Pathology, et al V. Myriad Genetics, Inc, 2010)

As it relates to the Myriad patents, there is also concern that the exclusivity of breast cancer testing has led to the misdiagnoses of patients and stopped other labs from creating better tests for the gene. According to an article in the Journal of the American Medical Association (JAMA) 12% of women from high risk families for breast cancer were misdiagnosed due to mutations in the BRCA1 and BRCA2 genes that Myriadís test does not look for (Tom Walsh, PhD, et al 2006). On the other side of things, some women may be diagnosed with having these genes when they really donít. This may lead some women to proactively remove their breast or ovaries based on faulty testing. This is a possibility mainly because there is no way for a patient to get a second opinion due to the exclusivity of Myriadís patents.

Lastly the cost of the test themselves are the biggest barrier for many women. Some insurance carriers do not cover testing for BRCA1 and others are not accepted by Myriad. With a cost of $3000 per test, it is prohibitively expensive for most women to pay out of pocket. Also as evidence as shown that breast cancer is higher among minorities, they would benefit the most. But due to a number different factors, insurance is not readily available for most and the few that have insurance do not have adequate coverage. Based on information obtained during the initial Myriad lawsuit, one example of this is a patient by the name of Ms. Ceriani. Ms. Cerianiís insurer was not accepted by myriad to cover the cost of her testing. She was unable to find any programs to help her fund her testing, and subsequently is still to this day not tested for the breast cancer gene.