June 2, 2008
UNIT 1: Introducing BiologyThe Ethics of Sequencing an Individual’s Genome
On May 21, 2008, President George W. Bush signed H.R. 493, the Genetic Information Nondiscrimination Act of 2008. The purpose of the Genetic Information Nondiscrimination Act (GINA) is to protect Americans against discrimination when applying for health insurance or employment based on the results of genetic testing.
The bill passed in the U.S. Senate by a unanimous vote and passed in the U.S. House by a vote of 414 to 1. Prior to the bill’s passage in early May, the topic had been under debate in Congress for 13 years. One of the hopes of the sponsors of the bill is that it will allow Americans the ability to undergo genetic testing without fear that the results will affect future health insurance coverage or employment, letting them pursue individualized medical treatments.
The U.S. Human Genome Project was started in 1990. Two of the main goals of the project were to identify and determine the sequences of the 3 billion base pairs that make up the human genome. Scientists hoped to complete the project within a span of 15 years. However, technological advances allowed them to finish early, and they completed the human genome sequence in 2003.
One of the unique aspects of the U.S. Human Genome Project was that funds were set aside by the U.S. Department of Energy (DOE) and the National Institutes of Health (NIH) to study the ethical, legal, and social issues associated with the availability of genetic information. According to information gathered by the DOE and NIH, some of the ethical issues related to genetic testing include:
- Fairness in the use of genetic information
- Privacy and confidentially of genetic information
- Psychological impact of genetic test results
- Reproductive rights and genetic testing
- Standards related to genetic testing
- Uncertainty related to genetic testing results
- Free-will versus genetic determinism (i.e., how much control does an individual have over their genetic fate?)
- Ownership of information related to genome sequences and genetic tests
Although the technology now exists for individuals to get their genome sequenced, many scientists caution against doing so.
“From a basic science perspective, the advances being made in genomics are important discoveries, but it’s unrealistic for individuals to believe those advances can yield meaningful information that will improve their health,” said Dr. James P. Evans, a professor of genetics and medicine at the University of North Carolina-Chapel Hill School of Medicine. “And even saying ‘It’s not there yet’ is too optimistic. It’s going to be a long time before the potential is realized.”
Several companies now offer individuals the opportunity to be genetically tested, usually for a fee between $1000 and $3000. Those individuals who seek genetic screening are often interested in finding out their potential to develop conditions such as Alzheimer’s or heart disease. The results of such a screening has interesting ethical implications. If an individual finds out that they do have the genes that may lead to a life-threatening disease, what do they do with that information? How does it affect their outlook on life? If the genetic tests come back negative, does that mean the patient should be completely worry-free? Perhaps an even bigger question is whether or not most doctors are equipped with the knowledge to adequately interpret a patient’s genetic test results.
“Most physicians, by their own admission, are not geneticists and won’t know what to do with the information,” Evans said. “Many who do understand the technology and how it is generated don’t know what to do with it. So there’s huge potential for patient harm—either for patients to be lulled into a false sense of security by this new genetic information or, in the opposite extreme, to have unnecessarily increased anxiety.”
The field of genomics is constantly evolving. Many medical advancements have been made since the human genome sequence was first made available in 2003. The study of human genomics continues to be a bit of an ethical minefield. However, it is hoped that some day in the near future scientists will be able to use their discoveries to aid human health and help treat and/or prevent genetic diseases from developing.