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
Aldhous, Peter. "A Faster Walk Along the Genome." Science 21 May 1993: 1075.
Aldous, Huxley. Brave New World. New York: Harper and Row Publishers, 1932.
Bylinsky, Gene. "Genetics the Money Rush is on." Fortune 30 May 1994:94-108.
Carey, John ,Julia Flynn, and Neil Gross. "The Biotech Century." Business Week 10
March 1997: 78-89.
Facklmann, Kathy. "Beyond the Genome the ethics of DNA testing." Science News 5,
Nov. 1994: 298-299.
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
Public Health Aug. 1997:1275-1277.
"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.
Freeman and Company, 1996.
Lapham, E., Chahira Kozma, and Joan Weiss. "Genetic Discrimination: Perspectives of
Consumers." Science 25 Oct. 1996:261-264.
Mullis, Kary, Francois Ferre, and Richard Gibbs. PCR. Boston: Birkhauser, 1994.
"President's Bill Would Prohibit Human Cloning."
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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