The Human Genome Project, Part 4

The Impacts and Benefits of The Human Genome Project

How will the HGP and its results impact the future of science, genetics, medicine, and people's daily lives?

The renowned scientist, James Watson stated that the completed map of the human genome would serve as the "official instruction book for human life" and "a giant resource". Undoubtedly the Human Genome Project and its results will have a great impact in the fields of science and genetics. Technology and resources generated by the HGP and other genomics research are already having a major impact on research. Geneticists are finding more and more vital information about genetic diseases and traits as they are decoding the genome and mapping each of the twenty-three chromosomes. Researchers will be provided with detailed DNA information that will be the key to understanding the structure, organization, and function of DNA in chromosomes. Witnesses to the rapid growth of genetics related sciences predict that biology will be the foremost science of the 21st century. In years to come doctors will be able to cure diseases like Alzheimer's disease, diabetes and cancer by attacking the genetic roots of these diseases. The understanding of how genes affect diseases will lead to new drugs to treat different individuals. Development of genomics research also presents US industry with a wealth of opportunities; sales of DNA-based products and technologies in the biotechnology industry are projected to exceed $45 billion by 2009.
There are numerous existing and potential applications related to researching the human genome, including the following:
Molecular Medicine: Emerging is a new era of molecular medicine characterized less by treating symptoms and more by looking to the most fundamental causes of disease.

  1. Improved diagnosis of disease 
  2. Earlier detection of genetic predispositions to disease 
  3. Rational drug design 
  4. Gene therapy and control systems for drugs 
  5. Pharmacogenomics "custom drugs"

Risk Assessment: Understanding the human genome will have an enormous impact on the ability to assess risks posed to individuals by exposure to toxic agents. Scientists know that genetic differences make some people more susceptible and others more resistant to such agents. Scientists will be able to perform in-depth risk assessment, including the following.

  1. Assess health damage and risks caused by radiation exposure, including low-dose exposures 
  2. Assess health damage and risks caused by exposure to mutagenic chemicals and cancer-causing toxins 
  3. Reduce the likelihood of heritable mutations 

What are the benefits to mapping the human genome?

The mapping of the human genome will lead to a fundamental understanding of how genes affect disease which in turn lead to new drugs, to individually designed treatments and, perhaps, to correction of gene flaws before birth. By being able to predict disease risks, we are able to start a vigilant screening program, to take preventive medicines, or make diet or lifestyle changes that may prevent the disease. 

Among the many beneficial ways scientists can use the human genome:

Screening newborns: Each year in the United States, 4 million newborns have blood samples tested for abnormal or missing gene products. Some tests look for abnormal arrangements of the chemical bases in the gene itself, while other tests detect inborn errors of metabolism by verifying the absence of a protein that the cell needs to function normally.

Alert patients that they are at risk for certain diseases: Once scientists discover which DNA sequence changes in a gene can cause disease, healthy people can be tested to see whether they risk developing certain conditions later in life.

Predictive assessment: Pre-symptomatic testing can predict adult-onset disorders such as Huntington's disease. A particular mutation signals an almost certainty the patient will develop the disease.

Risk assessment:: The subject of most of the debate over gene testing, these screens are targeted to seemingly healthy people who are identified as being at high risk because of a strong family medical history for the disorder.

Diagnosis: Doctors sometimes make use of genetic tests to identify telltale DNA changes that can signal different diseases; for example, gene tests can distinguish between different forms of leukemia. In other cases, DNA-based testing is used for confirming a diagnosis of a symptomatic individual.

Prognosis: A particular mutation can provide clues as to what course the disease will take and whether it will progress rapidly or slowly; for example, a mutated p53 gene may signal cancers that are likely to grow aggressively. And in cystic fibrosis, a particular variant is predictive of a mild form of the disease marked by chronic bronchitis.

Treatment: Up to 85% of patients' response to drugs is due to genetics, so knowing if patients carry particular mutations can help doctors to tailor therapy. For example, the drug tacrine seems to slow progression in Alzheimer's patients who do not have two copies of the gene for apolipoprotein E4, but other drugs may be more beneficial for patients who have different apolipoprotein E4 profiles.

Is there concern over the impact of a complete map of the human genome?

There is not much about the human genome that should worry people, although some wonder how the information from a complete map of the human genome will be used. Many of these concerns are valid, but many more may stem from a lack of education on the science of genetics. Genetics is a relatively new and rapidly expanding science; it is changing the world in which we live. Most people do not like change until they get used to it, and people are still wary and uncertain of this revolutionary science. Many genetics-related benefits exist, which are becoming increasingly evident, but many people still wonder about the effect of this knowledge on the many different levels of society. 

To what extent will it be considered acceptable to play with people's genes? Are scientists trying to play God by changing a person's genes? Is the science of genetics moral and ethical? Will our genetic information be used fairly to avoid genetic discrimination?


Action is being taken to educate people and help reduce doubts, but there is still a need to catch potential misuses and protect our genetics. So far 39 states prohibit, at least in part, discrimination in health insurance based on genetic tests; 15 have some ban on discrimination in employment. However, employers still want genetic information about their workers. A 1999 survey by the American Management Association found that 30 percent of large and midsize firms obtain genetic information on employees. Seven percent use it in hiring and promotions. A directing force for the HGP, Francis Collins, says, "It is still possible to have information about your genome used to take away your health insurance or your job. As yet, we have not seen effective federal legislation [to prevent this]. With genes getting discovered right and left, the opportunities for mischief are on an exponential curve." Nevertheless, most certainly legislation to protect people and their genomes will soon be underway as our genetic knowledge grows and it becomes even more important. In the meantime, we can continue to help ourselves by continuing to learn more and knowing our genes!

Source-www.msnbc.com, Associated Press and Reuters, www.ornl.gov/hgmis

Genome Project, Part 1 | Genome Project, Part 2 | Genome Project, Part 3 | Genome Project, Part 4 | Genome Project, Part 6