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Summary

The Human Genome Project began in 1990 in an effort to:
  • Identify all the estimated 100,000 genes in the human genome
  • Map the 3 billion chemical bases that make up human DNA
  • Store this mapped information in databases worldwide
  • Develop even better tools for sequencing and analysis
  • Address the many ethical, legal and social issues that come with this project
  • The Human Genome Project concluded in 2003. 
Since 1990, the private sector has raced to sequence the human genome. In 1991, the US Patent and trademark Office received around 4,000 patent proposals for sequence data, and in 1996 they received 500,000.

A gene patent can be a patent on a specific gene sequence, its usage, and/or its chemical composition.No researcher can study a patented gene without the patent owner's approval, and geneticists are barred from testing for patented genes without approval. Today, around 20 percent of the human genome is currently patented.
Do these patents advance technology by providing an incentive to research these genes? Or do they hinder the advancement of healthcare?

The Patent Act as it exists today was adopted in 1952. It was initially created well before this issue of Genetic Patenting was even in question. Due to the controversy the practice has caused, a summary of major court cases can serve as a helpful guideline for the history of the debate over genetic patenting. 
The current predicament over the ethics of patenting the human genome can be traced back to a groundbreaking case in 1980 regarding the patentability of life forms. The U.S. Supreme court ruled that under the Patent Act of 1973, the genetic modification of bacteria satisfied the requirement of “new composition of matter” as set forth by the act. General Electric had genetically altered bacteria so that they could be capable of consuming oil. Although the Patent Office initially disagreed that this qualified for a patent, the ruling was eventually overturned. The case of “Diamond versus Chakrabarty” was left with the verdict of the U.S. Supreme Court demonstrating that patent rights could be extended to live organisms. 
Certain natural products were already patentable under legal doctrine, such as vaccines and hormones. The deciding factor in these patents was that natural products or processes had been put forward to some use. The concept of utility applied in these instances was eventually carried over to the practice of patenting isolated human gene sequences.  The ruling of the case had far-reaching consequences for the public and private sector in regards to patenting genes. A request by the University of California in 1977 for patents on genes for insulin was subsequently granted in 1982. The rate of patenting across other sectors was initially very slow, however in the 1990s DNA sequencing techniques allowed scientists to quickly explore the human genome, and discover new genes at an astounding rate. 

The Pros

Intellectual Property Rights

The patent system is designed to both promote innovation while ensuring that these innovations are in turn available to greater society. This balance is particularly difficult to draw with respect to healthcare as government aspires to providing the best possible care for all citizens. The reality remains, however, that the development of new drugs requires heavy investment into research and development, expensive clinical trials, and significant money for regulatory approval. This cost structure holds true when discussing genomic research. As a result, it is important that biotechnology companies can ensure future profits when investing heavily into the research required for gene therapies. Beyond the need for economic incentive, studies conducted by the Secretary’s Advisory Committee on Genetics, Health and Society found pricing and availability of patented genetic tests are not dramatically or consistently higher than those not under monopoly. Given that scientific progress over the last decade has been driven largely by private investment and there have been no measurable negative side effects of gene patenting, the current system may be successful in spurring private investment. While it is impossible to state definitively, genetic tests and therapies may not advance at the same rate without private economic incentive to invest in research.


Influx of New Players

With greater economic incentive to invest in gene therapies and tests, a broader range of companies will enter the emerging genomics market. This is most clearly demonstrated by IBM’s recent announcement to find a way to cheaply sequence the human genome (for less than $100!). IBM is far from a traditional player in the biotechnology space, yet the resources and human capital they can devote to medical research opens the possibility for significant growth. While IBM’s incentives may in fact be skewed, their decision to enter the market will ultimately result in cheaper genetic testing and earlier diagnoses for a huge number of patients.


Why we Need Patents

Despite the potential for infighting among the scientific community, possible legal challenges, and likely higher diagnostic prices, patents are crucial for spurring private investment into gene research. Further, challenges in the current policy environment (in particular healthcare) will restrict public investment into genomics. As the potential for diagnostic testing has barely been explored, it is in the public’s best interest to drive private investment and the creation of new technologies. While they may be more expensive, or have limited availability, the research and development will not occur without proper economic incentive.


The Cons
While patents may drive innovation, we are on a different moral playing field when we're talking about the genome. Patents are intended to protect intellectual property and to ensure that innovators receive credit for their INVENTIONS, and we as a society need to ask whether or not the human genome falls into this category. Patents may protect scientists, but what do they mean for patients?

Monopoly Problem
Higher Costs
If a biotechnology company has a patent on a specific gene, it has the EXCLUSIVE right to perform diagnostic tests. As we know from the field of economics, monopolies in general are bad for society because they create market inefficiency. Monopolies allow companies to charge high rates for tests, and if a company has a patent on a specific gene, no other companies can even attempt to find a cheaper way to administer diagnostic tests. This means patients have no choice but to pay large sums of money for certain genetic tests. For example, Myriad Genetics, which holds a patent on the BRCA1 and BRCA2 genes, charges $3,000 for each genetic test, and as long as Myriad holds this patent, no other company come offer this test for less. The most controversial part of this scenario, however, is not that the tests are expensive but that the tests can potentially save a woman's life AND are so expensive. Many argue that when a diagnostic test can be a matter of life or death, it is immoral to give any one company monopoly power to charge exorbitant fees.

Limited access to healthcare
Furthermore, when there is only one diagnostic test available, patients do not have the option of getting a second or third medical opinion. To understand why it is important for patients to have access to second and third opinions, let's look at an example of a time when second and third opinions made all the difference. In Experimental Man, David Ewing Duncan paid for three different genetic tests, which each tested his genetic propensity for heart disease, and all three tests provided different answers; he was at high risk, average risk, and low risk for heart disease all at once. It was crucial that he had all three results for him to make an educated decision about his lifestyle choices. If he had only received one of those tests, he may have come to a different conclusion altogether. In a world where only one company is allowed to provide tests for any one gene, it will not be possible for patients to make this type of educated decision, and some consider this an unethically limited access to healthcare. Similarly, if insurance does not cover the only genetic test available, many people will not be able to afford this potentially life-saving test.

Fiercer Competition
Waste of resources
There are some general disadvantages to the patent system, too. For example, it wastes a lot of resources and human capital because it discourages collaboration between scientists. As a society, we would be better off if information flowed freely between all scientists so they can work together to arrive at the best solution possible in the shortest amount of time. Yet because patents are more conducive to competition than collaboration, this is not possible. This means the many years spent on research and development will pay off for the first group of scientists to make a discovery, but they will have been a waste for the hundreds of other scientists who were working towards the same goal. Under the patent system, unless you come in first, you completely lose out. What if one of those second or third place ideas would have been better if only they would have been developed? We will never know because those scientists no longer have an incentive to continue research. This means society loses out on a lot of great potential solutions and innovative ideas in the long run.

Legal fees & More wasted resources
We have already seen several lawsuits over gene patents. The ACLU has sued Myriad Genetics for holding patents on the BRCA1 and BRCA2 genes; Illumina, Inc. has been sued for alleged patent infringement; Cal Tech and MJ Research Inc. just ended a long legal battle; and there can only be more in the future. This means biotechnology companies will increasingly lose money through legal fees and resources wasted on fighting legal battles. Instead, these dollars and resources could be spent on R&D to create better health solutions.

Patent Infringment
By the same token, companies may feel limited in their research efforts for fear of patent infringement. Although patents may spur scientific innovation in general, this fear of patent infringement can discourage innovation in one company once another company receives a patent on a similar technology.


Conclusion: sustainability of the technology as it relates to current healthcare debate
Patents serve the same fundamental purpose in any business: they provide incentive for innovation. For most businesses, patents effectively serve their intended purpose despite their several pitfalls. Patenting genes, however, puts additional strain on problems already inherent in patenting and gives rise to several others. It’s not clear whether gene patents are serving their intended purpose; patents may be restricting innovation when they should be encouraging it. For patents to be sustainable with genetics the patents must be able to adapt in a field where our knowledge and technology is constantly evolving, not to mention the genes themselves. A single gene sequence is compartmentalized and can therefore be patented in several ways (an EST, a gene, an SNP). These patents need to be more clearly differentiated and terms need to be laid out to prevent the negative effects of patent stacking. Patents need to reward scientists for identifying biological function and application of genes instead of simply gene discovery. We are more interested in the application of genes so patents inappropriately reward the initial less important step of genetic research. Genetics is a relatively new science and we haven’t yet felt any major ethical consequences of these patents. By patenting a gene, one is claiming rights to part of a living individual. Theoretically this implies partial ownership as large corporations claim the rights to your biological blueprint. The definition and “meaning” of a gene patent must be made explicitly different from a conventional patent as we progress our knowledge of genes and their applications.




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