Human Genetic Screening and Discrimination

Mark A. Dihle

Copyright 1998

A few months ago I watched a movie called Gattaca, which dealt with the issue of genetic discrimination in the near future. In the movie, people were separated into two classes, those that were genetically screened and positively altered before birth and the class that was unaltered. The separate classes had stark divisions, from what jobs that you were able to apply for to where you could eat. Security was aimed at keeping unaltered people away from the enhanced people. Knowledge about who and what you are was done by "instant" genetic genotyping that tells anyone everything that they want to know about a personís genome from a small sample of blood or a hair strand. The hero of the movie "cheats" the system and achieves his dream of space flight with the help of a crippled genetically altered man, using his hair and blood samples.

Although this movie was a work of fiction, it brought several ideas and issues to mind. Will it be possible for genetic discrimination in the future? Will people be divided into groups that are based on their genetic background? A short trip to the library computer lab to check on sources for this paper led me to believe that fiction could in part become real, especially when dealing with health insurance coverage and heritable diseases.

I will begin by clearing up some misconceptions and explaining some of the current shortcomings of DNA testing. It is not possible to completely genotype a person "instantly" as in the movie. We are only able to discern the markers of some diseases that are genetically linked. This takes time, is labor intensive, and easy to contaminate. Studies to make the process quicker and cleaner are under development. As for protection from discrimination, there are some state laws that already provide genetic protection; however, there is no federal law as of yet. So far, there are relatively few people who have been genotyped already, and those that have usually have their information withheld from insurance companies as a precaution.

Genetic screening is done with RFLP analysis. RFLP stands for Restriction Fragment Length Polymorphism. RFLP analysis is used to find an identifiable pattern of fragments (an RFLP) that indicates a genetic marker. The genetic marker is unique and is inherited in all people with a disorder or disease. The RFLP comes from a strand of DNA near a suspected gene location that has been cut with a restriction enzyme into smaller pieces. The pieces of DNA are separated using gel electrophoresis into their distinctive bands. The RFLP is a distinctive pattern of the fragments in the gel. All people with the disorder or disease have the RFLP pattern, it is written in stone or in this case, DNA. DNA bands are studied to determine if a person has a disease, is a carrier, has no prior deposition to the disease, or if they will develop the disease in the future. A detailed human map is being developed by scientists worldwide who are contributing information to the human genome project. The human genome project is an attempt to map out every gene on every chromosome of the human genome. It is going slowly, but growth in knowledge of the genome is growing exponentially every year. Along with the growth, we are accumulating knowledge about more and more of the diseases that are genetically linked. This is allowing us to know more and more about who and what we are, and what will happen to us.

One positive aspect of the debate is that we can find and help more people with genetic diseases. The best example is PKU testing and therapy for newborns. Children have been tested for this disease for many years and the extremely negative side effects are easily averted with a strict diet regimen. Other therapies for newborns are also helping more and more people to have a better chance at life. We are also able to take preventative steps against conditions that we are shown to be predisposed to.

The question posing some people now and most of us in the future will be: Do you want a genetic screening test done on you or your child? I think this is one of the most intensely personal and troubling questions that people will ever be faced with. I would have to say yes, do the screening. I feel that I want to know, and that by knowing I would adjust my life slightly so that I am better prepared for the possibility that I would have to face. I think that knowledge is power, and I like to eliminate some of the guesswork in my future. Because the information about a person is so definitive, there are possibilities that are very disturbing, and they might lead someone else to decide differently.

Currently, the negative aspects of the debate are concentrated in two areas. One area concerns the consensual use of existing tissue samples that have already been collected. A second area is in privacy rights of individuals who have been screened for diseases. Linked to this is the discrimination of health care based on genetic information. Both of these issues are of high importance to everyone, because of the disastrous scenarios that could occur when the wrong people get the right information. The consensual use of testing existing tissue samples is an issue that deals with research projects. There exists a vast reserve of tissue samples already collected from newborns in state-funded programs that tested for early-onset diseases. The number amounts to approximately 4 million newborns each year for these public programs (Pelias, 1998). These samples represent a potential source of information that could be used to determine questions of human and medical genetics. These samples could be used to map and follow people with certain diseases and to find gene markers in genes that would enable us to precisely target certain diseases.

The main issue at hand is: Can we use these samples in anonymous testing without gathering consent, or should we gather consent, with information released to the persons after tests have been conducted. In general, experts agree that if research is totally anonymous, with uncoded samples so that the sample is treated only as a source of untraceable information, research is acceptable. This is because gathering consent of the individuals already is practically impossible (Pelias, 1998). However, guidelines must be made so that in the future, parental consent should be necessary for the newborn screening process to occur. These guidelines would outline a protocol so that a sample would be separated into groups depending on if the sample should be used for tests or not. If the sample is used, is it to be anonymous, or should test results be disclosed to the parents after the testing is done? The guidelines must be specific so that the information doesnít fall into the wrong hands and ruin the personís life.

A second primary issue in genetic screening is that of privacy of information that deals with the personís genome. The issue of privacy is a highly ranked privilege of the American people. The effects of discrimination and the limitation of a person's liberty if the information about their genome was made public would be disastrous. Imagine if a presidential candidate was predisposed to alcohol and drug abuse, despite a history of no problems, people would worry about the potential of a president with a problem and discrimination would occur. Or, if people are predisposed to a condition, they are refused entry to a program, based not on their accomplishments, but on what "could" happen.

The most immediate concern with discrimination based on the genetic information becoming available to other people is that of health insurance coverage. Historically, insurance companies have already discriminated; charging higher rates or refusing service to people with diseases such as Huntingtonís disease and to African Americans who were carriers of sickle cell anemia. Other surveys have found that 22% of people with a known genetic condition in the family have been refused coverage because of their genetic status, sick or not (Hudson, 1998).

Health care in the United States depends mainly on insurance. A major illness without insurance is typically disastrous to an average person. Insurance is based on a certain level of risk and the cost of the risk for one person is spread out over a group of people. If the few people who are at high risk/high cost are scattered out over a large number of people, the risk/cost is low for everyone. Genetic information about the individual is capable of making insurance obsolete. If you could eliminate the high cost of including some people by not including certain individuals, your cost would plummet, because you could rule out a major portion of your expenses. But, woe to the group that is not included, they would be faced with making the potential payments on their own. This might be a death sentence if a person is not capable of paying.

I feel that the only way that a person could feel confident in having their genes screened is if the person knew that all of the information is for their eyes only. No one else would have access to the information, unless the person was willing to give the results to them. The protection for a person from discrimination should be set up similar to the recommendations that the National Action Plan on Breast Cancer (NAPBC), and the NIHís Ethical, Legal, and Social Implications (ELSI) group came up with in a 1995 workshop. In essence, they are:

  1. Insurance providers should be prohibited from using genetic information to deny or limit any coverage or establish eligibility.
  2. Insurance providers should be prohibited from establishing differential rates or premium payments based on genetic information.
  3. Insurance providers should be prohibited from requesting or requiring collection or disclosure of genetic information, or holding genetic information.
  4. Insurance providers and other holders of genetic information should be prohibited from releasing genetic information (Hudson, 1998).
Guidelines like these need to be formed into a federal law that people can pass in one way or another so that we can be protected from the various forms of discrimination that is possible with this kind of information. The public should be aware of what could happen if this kind of information could become public knowledge, and of the opportunities that the knowledge brings. There is no doubt that the information from genetic analysis is going to help a lot of people with all sorts of problems live longer and healthier lives. The only problem is that we have to keep the information in the hands of those who need it, and out of the hands of those who would use the information to profit or discriminate.

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