SACGHS Appendix 1- Compendium of Case Studies on the Impact of Gene Patents and Licensing Practices on Access to Genetic Testing

Overview

• Secretary's Advisory Committee on Genetics, Health, and Society—Public Consultation Draft Report on Gene Patents and Licensing Practices and Their Impact on Patient Access to Genetic Tests - Appendix 1: Compendium of Case Studies on the Impact of Gene Patents and Licensing Practices on Access to Genetic Testing. (2009) Available at: http://oba.od.nih.gov/SACGHS/sacghs_documents.html#GHSDOC_011.

See Data,_narratives_and_tools_produced_by_the_Kits'_sector for summary of patent information about the diagnostics described in this report.

Below are notes from the Appendix. Quotes are preceded by the page number they were found on in the appendix.

Researchers sought patents to establish scientific priority and exclusive licenses to ensure ethical use of their discovery

B-6:

"According to Dr. Allen Roses, first inventor on the patents, the patents were sought because of well known chicanery in publication and reviewing in academic AD research at the time. The gene hunts for PSEN1, PSEN2, and APP were characterized by competitive races and nasty controversies, including conflicting claims of scientific priority. 41 Dr. Roses’ solution was to file a patent application for APOE screening to establish a documentary record. The Duke APOE patents were exclusively licensed to ensure that the genotyping was only done “for physicians who confirmed a finding of dementia... [and] we felt that we could monitor the activity better with one license.”42 Because APOE is neither necessary nor sufficient to diagnose AD, Dr. Roses indicated the intention was to use the patent license from Duke to ensure APOE testing would not be used as a presymptomatic screening test; it could only be used for patients already clinically diagnosed with dementia."

Patents neither particularly incentivized nor impeded research

B-14:

"On one hand, an argument can be made that patents were part of the mix of motivations that spurred innovation in Alzheimer’s research. Two books, Daniel Pollen’s Hannah’s Heirs and Rudolph E. Tanzi’s Decoding Darkness, document the hyper-competitive races to trace the genetic origins of Alzheimer’s Disease. Some of the major competitors in these races found their way to the patent office with claims covering EOAD, transgenic models of AD, and other inventions related to the research. From various accounts, there was intense animosity among the different research teams, and competition to discover and publish findings motivated the speed of AD research.83 Both publications and patents were pursued by the various competing laboratories. At least in the initial period of discovery, the patenting landscape encouraged research, or at least did not dramatically hinder it. Dr. Tanzi expressed concern about Athena’s patent control of the A-beta protein patents in connection with AD.

"Most of the researchers we interviewed expressed ambivalence about patenting, and none attributed the intensity of the races to patent priority. Rather, they stated that the races were driven by wanting priority of scientific discovery, prestige, scientific credit, and the ability to secure funding for additional research based on scientific achievement. If patents added “the fuel of interest to the fire of genius,” in Abraham Lincoln’s famous phrase, it was here at best a tiny pile of kindling at the outer margin of a large conflagration."

Having not found patents to be a significant impediment to research on AD, are patent benefits any clearer? Here again, it is difficult to argue that patents added much fuel to a fire that was already raging to hypercompetition. Indeed, Dr. Roses corrected us in the interview when we asked if one reason he sought a patent was to verify priority of his discovery associating APOE ε4 with elevated risk of AD. He said it was not a reason, but it was the only reason he sought a patent. According to those who were in the race, research would not have slowed without a patent incentive."

The growing set of Alzheimer's patents may be a problem for multiplexed and genomic tests

B-7:

Finally, an April 2008 search of patents found 355 US patents with claims mentioning an Alzheimer’s- specific term.48 Many of these are clearly for research methods, transgenic animal models, and other purposes, and do not bear directly on genetic testing. A few, however, are of clear interest. Perlegen, for example, has a patent application for “Genetic Basis of Alzheimer’s Disease and Diagnosis and Treatment Thereof” that claims a collection of polymorphic sites (US 2006/0228728 A1/WO06083854A2). Its initial claim is for an AD genotype profile, which includes APOE and APP along with many other loci associated with AD risk. Even though the patent application may not be granted, it indicates that multiplex testing for AD is being commercially pursued and is the subject of patent applications.

The cost/amplicon sequenced for genes non-exclusively licensed by non-profits for HNPCC & CF is slightly higher than genes exclusively licensed by a for-profit for Breast Cancer (BRCA)

C-16:

"With those caveats noted, the price range for CFTR gene sequencing among non-profit institutions ($40 to $86.23 for each sequence targeted for amplification or amplicon) is higher than the per amplicon price range for non-profits’ sequencing the colorectal cancer gene APC ($28.57 to $ 39.88). However the price per amplicon for CFTR sequencing is comparable to that of non-profit labs’ price ($30.00 to $77.44/amplicon) for sequencing MLH1, MSH2, and MSH6 genes. This comparison between the prices of sequencing different genes is only an approximation. The fact that Baylor College of Medicine, City of Hope, and Harvard perform both colorectal cancer and CF testing and that colorectal cancer genes are also licensed non-exclusively by non-profits makes the comparison worth noting. Specifically, the same labs performing these two tests presumably incur similar overhead costs. Also, because JHU has patents on certain CFTR mutations as well as APC and MSH2, there is at least one common actor involved in licensing intellectual property associated with colorectal cancer testing and CF testing. Sequencing the colorectal cancer genes and CFTR, on a price per amplicon basis, is comparable to sequencing the BRCA1 and BRCA2 genes, for which the sole provider Myriad Genetics charges $38.05 per amplicon. That is, CF and colorectal cancer genes cost slightly more to PCR-amplify and then sequence at non-profit academic institutions than BRCA1 and BRCA2 genes at Myriad Genetics, the single for-profit provider."