A. Barriers for entry: Research
Every year there are thousands of research proposals for testing of new and old diseases. One factor in approval of any research is the cost involved. This is mainly due to the fact that most research is not paid for by the federal government but by private institutions that rely on donations. Myriad genetics fees are so high that those who would like to do research on the breast cancer gene cannot get their research approved.
One example of this reluctance to carry out research is hereditary hemochromatosis (HFE) which is a common autosomal recessive disease, affecting 1 in 200 to 1 in 300 people of northern European descent. HFE patent on the discovery of the gene was granted to Mercator Genetics in 1998. During that same year Mercator went out of business and merged with a company called Progenitor. Progenitor licensed their patent to SmithKline Beecham Clinical Laboratories (SBCL). Once in control SBCL started enforcing their patent rights. Letters were sent to laboratories informing them that all testing for HFE must now be licensed. The fee was $25,000 for academic laboratories plus royalties, and 5 – 10 times that amount for commercial laboratories (John F. Merz, et al 2002).
To properly assess the impact that this patent had on clinical research a survey was performed by a team led by John F. Merz, a bioethicist from the University of Pennsylvania. The sample group was 128 commercial and academic laboratories. Of those labs 26% stated that they were not performing or creating a test for HFE. And 4% stated that they had stopped performing genetic testing for HFE altogether. Of those 26% more than half stated that patents were the reason why they had stopped testing, and the rest stated that it was one of the reasons. Before this patent was awarded there were many laboratories doing genetic testing for HFE, but once the patent was given many of those same laboratories discontinued testing or did not develop genetic screening for HFE (John F. Merz, et al 2002).
Lastly one more unintended consequence of gene patents is the potential for research to be delayed and or manipulated in the hopes that the discovery can be patentable. One survey done in 1997 showed that laboratories had research delayed and or halted due to patent applications (Blumenthal D, et al 1997). This has an adverse effect on patients who may benefit from new discoveries. Once the research is published other labs have the opportunity to replicate results and if it is a new discovery can immediately begin the process of creating genetic tests. A six month or longer delay in publication of research could mean life or death for a patient with a rare disease.
It is of note that these effects on research mostly apply to U.S. based laboratories. In Europe genetic patents are routinely ignored and licensing deals are uncommon. One of the reasons for this is ignorance on the part of researchers about their responsibilities. Most do not know that they must receive permission to do certain types of research and for others they conscientiously ignore gene patents altogether.