The Human Genome Project has brought to light the importance of single nucleotide polymorphism's (SNPs), which occur every 100 to 300 bases (1). A single nucleotide variation in the DNA sequence can have a major impact on how humans react to bacteria, viruses and drug therapy. Mapping of these SNPs will allow scientists to associate multiple genes with diseases like cancer and diabetes. Current methods of linking multiple genes to a certain disease is very time consuming and difficult. Scientists hope that mapping SNPs will allow them to explain why certain diseases are linked to certain genes.
The Human Genome Project not only affects the scientific world but also the business world. The desire of companies to sequence parts of the human genome ahead of the U.S. Department of Energy and the National Institutes of Health has led to a multitude of company mergers and partnerships. From 1993 to 1996 companies alliances increased six times the normal rate, and in 1997 alone U.S. biotech companies saw their capitol raise eight folds from these mergers. The race to sequence the human genome by the private sector can be seen by looking at the number of patent requests received by the U.S. patent office. In 1991, the U.S. patent and Trademark Office received around 4000 patent proposals for sequence data, and in 1996 that number climbed to 500,000 (3). The increased number of biotechnology companies trying to patent DNA sequences has only harmed the Human Genome Project. Many long court cases have drawn attention and money away from research to court battles involving arguments on what material should and shouldn't be patented. Clearly the use of patented sequences could bring millions of dollars to biotech companies. By owning the rights to a specific gene sequence linked to cancer, a biotech company would have a huge advantage in discovering new cancer drugs and treatments. With these massive company mergers and the race to patent as many possible useful sequences, by these newly formed companies, the original intent of the Human Genome Project has been lost. The original intent of the Human Genome Project was not to start a massive global race to sequence and patent as many genes as possible for company profit, but rather to provide a free public database for companies to use for the common good of everyone.
One alarming discover came on May 9, 1998 when the Institute for Genomic Research and the Perkin Elmer Corporation announced that they would be teaming up to sequence the human genome (2). This announcement prompted the National Human Genome Research Institute to award $60.5 million to seven companies to help sequence the genome, so that the entire sequence does not become involved in a big patent battle. These races to sequence as much of the human genome before the National Human Genome Research Institute has forced extra federal money to be spent on the project. This push by the private sector to sequence the human genome has sparked the development of new sequencing machines and computers which, has allowed the project completion date to be changed from 2005 to 2003. The National Human Genome Research Institute has debated over whether or not they should do a rough draft of the human genome by 2001, or if they should continue with the original plan of sequencing the entire genome with no more than one base error per ten thousand bases (1). The intent of this idea is to ensure that the National Human Genome Research Institute is the first to complete the Human Genome Project. One new sequencing technique now being used is the whole genome shotgun technique (2). Instead of sequencing the genome by making bacteria clones that carry a 150,000 base human DNA sequence, which is cut and pieced back together by overlapping, the shotgun technique simply chops the genome into small pieces and a computer reads the DNA sequence. The shotgun technique has come under fire for being less than accurate, by genomic mapping standards. Commonly for genome mapping each piece of DNA is cut with different overlapping stretches ten times to ensure accurate sequencing. For the rough draft of the human genome the DNA bases are only checked four to six times, which may not catch all sequencing errors. The National Human Genome Research Institutes plan is now to in fact to do a rough draft of the genome by 2001, using the shotgun method, but also to have one-third of the genome sequenced with only one base error per ten thousand bases by the end of 2001. The complete, error free, genome should then be finished by 2003 and made free to the public via a worldwide web database.
Although there will be countless advantages of having the entire human genome sequenced, the scientific community must be aware of the possible effects it will have on human research. The U.S. Department of Energy and the National Institutes of Health already provide about three to five percent of their annual budget to researchers that study the various public opinions on the Human Genome Project. These studies cover the ethical, legal and social issues surrounding the new genetic information that will be gained from the completed Human Genome Project. Most of the money is not spent on public opinion of the Human Genome Project, but on how the information gained from such a project should be used to help the public. This research covers areas from reproductive issues, clinical issues, patenting rights and privacy concerns (1). One clinical and privacy concern is whether people should be tested to see if some day they may likely come down with a deadly disease. This topic will always be debated upon between people, the courts, doctors and scientists. Another problem with public acceptance of the Human Genome Project is the amount of money used to sequence our genome. The three billion-dollar price tag on the sequencing of the human genome has always been debated over in congress (4). Now with private company competition only time will tell if the three billion-dollar price tag will be enough to keep our human genome sequence free and open to the public. Increased funding may allow the project to be completed earlier, but it may not help with public acceptance (4). Other ethical concerns include the idea of human cloning, gene modification for treatment of diseases and manipulation of genes to produce superior traits. All these concerns are why the National Human Research Institute would like to gain as much non-bias information as possible to see how ethics and discovery of science concern people.
I believe the biotech companies should embrace the Human Genome Project as a beneficial scientific endeavor. The current push by biotechnology companies to sequence as many of their own unique sites in the human genome is slowing the project down with court cases on sequence patenting. I realize that patents protect the private companies and that these patents allow them to increase profit and funding for DNA research. However, with collaboration by the industry the genome project could move much faster, allowing for valuable sequence data to be discovered that would help with on going cancer, heart disease and gene therapy research. The knowledge gained from a completed Human Genome Project would then allow biotech companies to produce many new drugs and treatments that would allow large company profit and continued DNA research. The goal of the Human Genome Project should not be to map part of the human genome or just important genes but to complete it as it was originally intended with less than one error in every 10,000 base pairs. This accurate completed sequence should then be made available at a national database.
So far the response from the public to the Human Genome Project has not been one of disbelief or horror as was the case when a scientist cloned a sheep and named it Dolly. Perhaps since the project is not yet completed, it has not been made a big news story in all the national newspapers. As the completion date for the Human Genome Project grows nearer the debate over what is ethical treatment of humans will probably grow. Hopefully, people will see the Human Genome Project as a tool used by scientists to offer humans a better standard of life with new treatments and cures for devastating diseases, and not as a multi billion dollar project with little reward.