The Human Genome Project is a 15 year, 3 billion dollar venture whose goals involve identifying the 80,000 genes in human DNA and determining the sequences of the 3 billion chemical bases that make up human DNA. Genes are made up of a threadlike material called DNA. DNA contains four main ingredients, which are called bases. A single gene may contain thousands of bases, so the Human Genome Project (HGP) is not any easy task. First, scientists have to go into the cells nucleus, where the DNA is located. Here the DNA is tightly coiled, so researchers have to uncoil it and then examine the DNA and write down the order of the bases. The order is extremely important because it underlies life's diversity. The ultimate objective of the HGP is to create a directory of the genes that can be used to answer questions such as what specific genes do and how they work.
Once all the genes are examined, and their bases described, researchers have to translate what their order means. A genome is the entire DNA in an organism, including its expressed genes. These genes carry the codes for making all the proteins the organism requires. These proteins determine everything from how the organism looks to how it behaves.
The HGP has been progressing very rapidly. Because of its rapid success, a new set of goals were arranged for the 1998-2003 year period. The first goal is to complete the sequencing of the human genome and to make it publicly available to researchers so they can all work together to better the human condition. Included in this goal is to improve technology so that there is a more efficient way of sequencing DNA. Advancing technology includes decreasing the cost of current technology, funding for new technology, and effective review methods for implementing advanced technology development.
Variations in human genomes include the most common single nucleotide polymorphisms (SNP's), deletions, insertions, and duplications. One goal of the HGP is to gain a better understanding of the types and frequencies of these variations and their possible functional purpose. Mapping SNP's will aid in researching conditions such as cancer and mental retardation. These maps may also be applicable in identifying genes that contribute to increasing disease risk.
Another major goal of the HGP is determining the functions of genes. Once the complete genome sequence is discovered, the interpretation of the sequence still needs to be done. The functions of genes are a result of interactions among genomes and their surroundings. "Current methods for studying DNA function on a genome scale include comparison and analyses of the mRNA and protein products of genes, and various approaches to gene disruption" (Collins, 686). Included in this goal of the HGP is to develop new strategies to determine genome function. Researchers believe that improving technology and acquiring financial backing for research methods will aid in new strategy development.
All species are somehow related through evolution. As a result, understanding the genome of one species greatly helps in understanding the structure and function of the genome of another species. For this reason, the HGP also has goals of completing the genomes of Drosophila and Caenorhabditis elegans species. The genomes of Escherichia coli and Saccharomyces cerevisae have been completed. Also, researchers wish to identify and study other model organisms that will help in the understanding of the human genome.
The HGP also has goals of implementing databases and improving computer technology to facilitate the ease in which sequencing can occur. With the advancement of technology and increased interest and importance of human genetics will come a need for increased training. The HGP plans to train genome research scientists and provide career paths for these scientists. Researchers realize that advances in genetics will help the human condition, but it has to be approached with caution. Many ethical, legal and social implications (ELSI's) must also be considered with each advancement. As a result, the HGP have included research into ELSI's as a goal of the HGP. "In a unique partnership, biological and social scientists, health care professionals, historians, legal scholars and others are committed to exploration of these issues as the project proceeds" (Collins 687). With the increase in ELSI's, the HGP also plans to increase the field of genetic sciences to include ethics, law, and the social sciences.
The ELSI goals included in the HGP are composed of issues that will arise upon completion of the human DNA sequenced. The issues include integrating the new genetic information into health care and non-clinical settings, the philosophical, theological, and ethical aspects that will arise with increasing advancements, and finally how race, ethnicity and socio-economic factors will influence the development and use of genetic services.
With continued advancement of the HGP, there are many benefits and arguments in favor of the HGP. The knowledge about the effects of DNA variations between individual has lead to revolutionary new ways to diagnose, treat, and possibly prevent disorders. Many new genetic disorders have been discovered and with these, testing is becoming increasingly available. A good example is prenatal genetic testing. An expectant mother may have genetic testing done to determine if her child has a mutation that causes a genetic disorder.
Once the HGP is complete, a person may have their genetic profile available to them. Their profile could be helpful in many ways. The information could suggest behaviors the person should follow throughout their life to remain healthy. Their genetic profile may also tip the person off to have frequent check-ups if they are at risk for a certain disease. For example, if a person knows from their genetic profile that they are at risk for heart disease, they may have a modified diet and exercise program and frequent doctor's visits to help prevent heart disease.
Genetic treatment has come about from advances in genetics projects. We can improve crops by making them more resistant to insects and disease. We can make oversized and faster growing animals by inserting growth hormones in mice, pigs, sheep, and fish, thereby increasing food procuction. We can also increase food production by developing animals that have larger litters and lay more eggs, engineering fruits and vegetables to stay ripe longer, and developing crops and livestock that con survive harsh conditions. In addition, we can put human genes into pigs and baboons and use their organs for transplants into humans with less rejection from the human body.
Genetic treatment can be used in a variety of ways to improve the human condition. In the future it we may be able to correct medical disorders by going straight to their source, the genes. If a disorder is caused by a faulty, or mutated gene, doctors may be able to insert new DNA into the cells. This new DNA would replace, or knockout the action of the mutation and restore the function that was damaged by the mutation. Cystic fibrosis is one of the diseases researchers are trying to cure through this type of genetic treatment. CF is a disease in which the lungs become clogged and make respiration difficult. The disease is a result of a mutation that restricts production of an enzyme that helps make the lining of the lungs.
In this treatment, doctors would make copies of the corrected gene and insert it into a virus. The virus is used as a sort of transfer device. The virus would be sprayed into the nostrils of CF patients. Here the virus would reproduce by injecting the corrected gene into other cells of the patient's body. Doctor's hope the virus would reproduce enough to help the body make the needed enzyme. Although there are many advantages that supporters of the HGP can give for reasons to continue research, there are also those that argue there are many risks and disadvantages to the HGP and the use of Genetic treatment. Genetic treatment may easily be twisted to support prejudice and discrimination against others. Who is to decide if a trait is good or bad? For example, a doctor has two children patients with the same problem, but she is unsure of whether to treat them both. The two children, Sam and John, are both very short for their age. Sam does not produce enough growth hormone and will never grow above five feet. Both of his parents are close to six feet tall. John, on the other hand, inherited his height from his parents who are both barely over five feet. A growth hormone has been produced and is available to both patients. Both sets of parents feel their child should receive the treatment to help them grow taller. They want the treatment for their child because they believe there are advantages to being tall. The doctor has to decide whether to give the treatment to only Sam, since his height is a result of a mutation, or to give it to both children. How does the doctor decide what is fair? Neither of the children is sick. Only short. Some argue that instead of changing those traits society has deemed as undesirable, we should change the idea that different is undesirable.
Genetic treatment may be used in many ways to treat, cure, and maybe even prevent many diseases, but there is a concern its use may not be limited to health. With the growing knowledge involved in genetics treatment, there is an increased opportunity for people to be able to actually change how they or their children look. People may use genetic treatment to make them look younger, thinner, or even smarter. As a result, genetic treatment may also be equated with eugenics in the future. Eugenics is "the use of genetic knowledge to improve the human race" ("Your Genes, Your Choices" par 25). The term has a negative connotation because it implies some people or traits are better than others are.
Eugenics is not a new term. The term was used to describe what happened in Nazi Germany. The Nazi's believed to purify the German race they had to rid the population of Jews, Gypsies, homosexuals, and other minority groups. Many people were sterilized, and killed. They were also subjected to cruel and inhumane experiments to prove they were inferior to the Nazis.
Also, many people in the 1900's believed that crime, poverty, and other problems could be blamed on people with "bad blood" ("Your Genes, Your Choices" par 27). They believed that the human race was declining because these undesirables were reproducing faster than those with desirable traits were. These people were mainly white, Protestant, and descendants of north Europeans. They believed the undesirable people were the ones that were different. These included the poor, uneducated, people of color, Catholics, Jews, and descendents of southern Europeans.
Eugenics theories are still present today. In China retarded people are forbidden to marry each other unless they have been sterilized. Also Singapore has monetary incentives to smart women who have children ("Your Genes, Your Choices" par 28-30).
As researchers gain a better understanding of the human genome and the source of human differences from other species and ourselves, there is a fear this knowledge may be used to design a "super race" ("Your Genes" par 32). We may be able to choose the traits our children have. As a result, some believe those who are poor will suffer from genetic disorders because they do not have the money to pay for genetic therapy. Those against the advancement of the HGP also argue genetic treatment may make us less accepting of the differences among us. There are many pros and cons to the HGP. But, now that we have the technology and know how to discover the human genome and build a greater understanding of its functions, there is no turning back. Now we have the ability to gain knowledge and man cannot ignore it, we have to know. Just like the Bible story of Adam and Eve, we were tempted, and we are taking upon the tree of knowledge. Though I believe there are many social and ethical issues that need to be dealt with as we advance, we cannot set aside the fact that the HGP will facilitate in many discoveries that will help prolong the quantity of life ( if not the quality). We believe medicine can eventually find a cure for everything that ails us. This is why the HGP genetics treatments will, of course, continue their progression.
To prevent unethical prejudice, discrimination, or abuse that may occur because of genetics treatments, we must explore all ethical issues and create and implement policies on genetic research and the extent in which we allow genetics treatments to change the population.