Ethical Issues of Genetic Screening

Carla Otto

Copyright 1997

Introduction

As we approach the 21st century, we as a society are increasingly bombarded with technical advances. One such area of advancement is the research involved with the Human Genome Mapping Project (HGMP). HGMP is a multi-billion dollar world wide research collaboration interested in sequencing the entire human genome. Started on October 1, 1990, with a group of over 350 labs, and expected to finish within the next 5 to 7 years, the Human Genome Mapping Project has given rise to many important advancements and many discoveries about the genetic make-up of humans (Bylinsky, 1994). With these advances come many ethical questions and concerns. The ability to screen an individual for specific disease will, in the future, play a major role in each of our lives. Genetic screening is defined in Genethics, by Suzuki and Knudson (1990), as "the examination of the genetic constitution of an individual - whether a fetus, a young child or a mature adult - in search of clues to the likelihood that this person will develop or transmit a heritable defect or disease."
In the 1860's, it was known that progeny tended to resemble it parents; but how or why this occurred was a mystery. An Augustinian Monk by the name of Gregor Mendel was studying the passage of traits in pea plants. His pure bred lines and careful observation were the footing upon which modern genetic theory was based. Little did he know that his garden of peas would eventually open the door to billions of dollars of research and years of legal and ethical debates (Griffiths et. al., 1996).
Since the days of Mendal and his peas, there have been leaps and bound in knowledge. These advances have developed to the point that we have entered a biotechnology based century. The 19th century and the Industrial Revolution gave birth to the 20th century and a time when physics was the key to the world (Carey, 1997). In the past 40 plus years, since the publication of a simplistically short article by Drs. Watson and Crick describing the structure of DNA, the scientific world has slowly been taken over by the ever advancing fields of genetics and its younger sister biotechnology.

Techniques

There are many different techniques involved in gene sequencing. Without these techniques the mere thought of gene sequencing would still be little more than science fiction. Since the start of the Human Genome Mapping Project some of these techniques have been altered to speed up the screening process. Examples of these techniques include PCR (polymerase chain reaction), RFLP's (restriction fragment length polymorphism), cloning, and the use of markers for specific genes.
One of the biggest inventions that has allowed genetic screening to occur was the invention of PCR (polymerase chain reaction) by Kary Mullis. PCR, patented in 1987, was the key to advancing genetic research to the next level. This technique enables a single copy of a gene to be replicated millions of times with great speed and ease. Since its invention, alterations of this technique have allowed for many variations such as RAPID's (Randomly Amplified Polymorphic DNA), GAWTS (Genomic Amplification with Transcript Sequencing) and other techniques. These techniques have been utilized in the mapping and sequencing of the human genome along with the genomes of plants, yeast, eubacteria and archaea.
In 1993 one of the primary methods of sequencing for the Human Genome Project was a "shot gun method" of random primer searches. In this method segments of the genome were sequenced randomly and then slowly patched together to form sections of the map. Since then newer and faster methods such as "Primer Walking" have been tested.
In primer walking the DNA is sequenced in long continuous spans. This is accomplished by taking a large vector and beginning to sequence the first section. A second primer is made to match the end of the first section so that the sequencing can pick up where the first left off. The process continues until the entire vector of the DNA is sequenced. The one down side of this method is the necessary lengthy waiting period between screenings during the design of the new primer. However the traditional method is not without flaws of its own. One main area of concern is the insertion of the clone into the vector. This lengthy process also occurs in the primer walking but with larger segments of DNA therefore fewer vectors are necessary The second shortcoming of the traditional method involves sorting the short fragments of the gene sequence. This process of organizing the segments became lengthy and tedious (Aldhous, 1993).
GAWTS derived from PCR uses the promoter sequence of a T7 or T3 phage. The promoter sequence is attached to one or both of the PCR primers and is translated into RNA for a single strand template for reverse transcriptase. Advantages of this procedure include amplification of the region of interest thus eliminating the need for purification of the sample after PCR is carried out while compensating for poor quality in the PCR reaction. This along with the ease with which GAWTS lends itself to automation can increase the efficiency at which the screening takes place (Mullis, 1994).

Pros and Cons

These advances and techniques will open the door to a great deal of knowledge. This information may have many uses, some with positive outcomes and others with negative consequences. The myriad of possible uses for these advances are still not known, but there are already enough possibilities to concern some people. There are not only moral issues attached to the possible findings, but there are also many legal questions that require answers. One example is the issue of screening an individual for certain traits before the person is hired. Many feel that genetic based elimination is a form of discrimination, which in many cases may be true, but not a new phenomena. In the past people were chosen for certain jobs because of the expression of genetic traits including gender, height, and strength. This type of discrimination is one of the main concerns expressed by those against the push towards screening for specific traits. What some people fail to realize is that screening is already a part of our everyday lives. It is the law in almost every State in the Union that all infants are screened for PKU (phenylketonuria) at birth. California is even required to "offer" prenatal screening for Downs Syndrome and fetal neural tube defects (Holtzman 1997). These types of screens are looked upon as positive in the respect that the knowledge can be used to provide the child with the proper diets, treatments, or necessary care. However there are also concerns that parents will use prenatal screening as a form of selection for the "perfect child" and chose to abort any fetus that doesn't fit their standards.
Who is right? What validates testing for PKU at birth but at the same time in some people’s eyes makes Downs testing wrong? Both tests allow for parents to find out if there is a chance that they will be dealing with a mentally handicapped child or a normal child. The big questions that surface include; who should be allowed access to the information from these tests, whether it is a PKU test on a new born or a test of the Brac1 gene in a woman with a family history of breast cancer? The knowledge will effect not only the individual but also any possible progeny the individual may chose to have later or even children already born. A secondary concern are the limitations that will be set on an individual due to genetic screen results. In Genethics this issue is addressed as follows: "Information about an individual's genetic constitution ought to be used to inform his or her personal decisions rather than to impose them (Suzuki and Kundson, 1990).
The segregation of individuals by genetic makeup in the search for the ideal individual has been expressed for years in many different science fiction novels. One such example is Brave New World by Aldous Huxley. "’We also predestine and condition. We decant our babies as socialized human beings, as Alphas or Epsilons, as future sewage workers or future’ He was going to say ‘future World controllers,’ but correcting himself, said ‘ future Directors of Hatcheries,’ instead." The divisions of the social classes in this book are primarily associated with genetic makeup. Those with the purest of the desirable traits are encouraged to achieve, while the lower classes are more looked upon as workers, or in some cases, untrainable.
This theory of only the Idea achieving goals is also explored in a newly released movie "GATTACA". In this movie, set in the "not to distant future", children are no longer born by simple chance. The new "normal" form of conception involves the in vitro fertilization of several eggs of which those with any undesirable traits are removed and the few that remain are altered by genetic engineering to yield the perfect child. Those who are unlucky enough to be born with out genetic alteration are labeled "Degeneerates" and are considered sub-human. The main character Vincent is a "Degeneerate". To succeed he is forced to choose a life of deceit in which he purchases the identify of an individual, Jerome. Jerome is an "Ideal" who has suffered a spine injury and is willing to supply blood, urine and tissue samples to Vincent. In this future, your identity is provided by your genomic make up. Vincent is forced to use Jerome’s body for the necessary chromosomal proof that he is who he claims to be. The main premise of the movie is that Vincent, a "Degeneerate", is able to work his way up in GATTACA ( a large space exploration company) to qualify for a space mission, even though he is considered part of a sub-human social class with no redeeming traits. The catch was getting in the door which Jerome's DNA did for him. The interview for the job consists of a urine sample that is screened and tested for drugs. The main point of the movie is that we are not only what our genome says but also what we desire to be. The tag line for the move is "There is no gene for the human spirit." (www.corona.ba.ca/films/details/eighthday.html, 10/27/97)
An interesting side note to GATTACA is the web site for the movie which is set up as an actual corporate web site complete with a "design a child" site. This site is set up to process inputted information on ones physical traits along with a short family history which is then combined along with your chosen mates information to yield a child. At this point you are able to decide if you will "risk" nature or if you will chose to alter and correct your child’s genetic makeup (www.gattaca.com).
The concerns expressed by critics are along the same lines. At what point do we loose all humanity and become nothing more than a set of specific genes on chromosomes? Full or partial genetic screening will occur with in our life times that is no longer a question. The question now is what will happen with the information found during those screens. Who will have access to your genetic make up and what sort of effect will that information have on your everyday life? There are already people claiming they were refused health insurance due to genetic traits, but since insurance companies are not required to provide a reason for coverage denial, these assumptions are made on the part of the rejected individual (Lapham et. al. 1996).
An association of insurance companies in England announced they will require applicants to disclose the results of any genetic testing they have been through. The companies have said that depending on the results there would be a alteration in the cost of the individuals premiums (Hamilton and Flynn, 1994).
The concerns do go beyond insurance companies. Many people are struggling with other uses of this knowledge. Imagine, you are a 29 year-old pregnant woman who has just been told that you have a gene that almost always causes breast cancer in early adulthood. Testing has shown that your daughter-to-be has the gene, You are now faced with several options as to what you will do with this knowledge. Do you abort the fetus to prevent a treatable disease that may not effect her until she is in her 30's or do you go through with the pregnancy? If you do decide to go through with the pregnancy, how do you treat your daughter as she gets older and when do you tell her? What sort of life can a child have knowing that sometime in the next 30 years she may be stricken with cancer (Fackelmann, 1994)?
Other questions include release of information by doctors to other family members or to businesses. There is also the possibility that an individual is screened for one gene but the doctor instead finds a gene for a second disease. If the patient doesn't ask is the doctor obligated to inform the patient? If the doctor does release the information and then patient fails to become ill can the doctor be charged with malpractice? These are the concerns that we must address with each new marker located on the genome.
What we must remember is that genetics is a game of statistics. In some cases, having a gene is not a guarantee that the trait will be expressed. We also have to focus on the fact that as more is known about the human genome, new treatments and forms of prevention will also advance with medical research.
There are also the medical advances that have come from a greater understanding of how or why a trait or disorder occurs. One example of this is the alterations in the treatment of individuals suffering with CF (cystic fibrosis). In the past, treatment for CF centered mainly on the removal of mucous allowing the patient to breathe. This therapy only prolonged the suffering for some individuals. Recently, however, researchers were able to insert copies of the healthy version of the CF gene into a patients lung. Without understanding of the gene, this treatment would not have been possible (Fackelmann, 1994).

Personal Opinion

Our society is entering an era where science fiction is rapidly becoming fact. We must become more educated with each advance in research. The amount of information discovered in our lifetimes alone will overshadow any past advances in science. We are on the brink of a new world in which certain now fatal genetic diseases will become treatable, if not eradicated. In this era of research it is necessary for people to become informed. Ignorance quickly spreads fear and it is up to the scientifically literate of society to educate those around them. In the past year there was a great deal of concern when Dolly, the first genetically cloned sheep was born. The public cried out to halt this type of research for fear that soon humans would be cloning themselves. The outcry prompted President Clinton to request a ban on any further human cloning research occurring in the United States (www.ornl.gov/TechResources/Human_Genome/public/hgn/v8n3/07pres.html).
The scientific community has in the past and continues to show concern and responsibility in each new advancement of research. Bureaucratic red tape and international governmental relations are not flexible enough to accommodate the rapid changed occurring in genetic research. It is therefore up to scientists along with organizations such as the Task Force on Genetic Testing of the NIH (National Institutes of Health with the DOE (Department of Energy) Working Group on ELSI (Ethical, Legal and Social Implications) of HGR (Human Genome Research) to watch for any problems that may occur and recommend proper protocol and channels for research.
Information derived from research will transform medical treatment, scientific research, and the outlook of societies forever. We will be faced with ethical decisions involving gene therapy and genetic screening. These ethical decisions are ones that we will need to make not only as individuals but as a society.

Literature Cited

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Aldous, Huxley. Brave New World. New York: Harper and Row Publishers, 1932.

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Facklmann, Kathy. "Beyond the Genome the ethics of DNA testing." Science News 5,

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Hamilton, John. "Biotech: An Industry Crowded with Players Faces an Ugly

Reckoning." Business Week 26 Sept. 1994: 84-92.

Holtzman, Neil. "Editorial: Genetic Screening and Public Health." American Journal of

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"GATTACA." www.corona.bc.ca/films/details/eightday.html. 27 Oct. 1997.

"GATTACA Homepage."www.gattaca.com. 27 Oct. 1997.

Griffithes, Anthony, et. al. An Introduction to Genetic Analysis. New York. W.H.

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www.ornl.gov/TechResources/Human_Genome/publicat/hgn/v8n3/07pres.html. 14 Nov. 1997.

Suzuki, David and Peter Knudtson. Genethics.Massachusetts: Harvard University Press, 1990.

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