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Victoria Spadafora

CAS 137 H
Dr. Freymiller
Paradigm Shift Essay
Friedrich Miescher. James Watson. Francis Crick. The latter two names, for some, may elicit a
connection to DNA and the discovery of its distinct double helix shape. In 1869, Friedrich Miescher
isolated DNA for the first time and called it nuclein. This was an essential development in DNA and gene
research that still occurs today ("Online Education Kit: Dynamic Timeline"). But why does he seem to lie
behind the scenes, understudy to the big names like Watson and Crick? These two scientists furthered
Mieschers discovery and slowly began to uncover in more detail the chemical properties of DNA. Prior
to this, Phoebus Levene discovered all there was to know about nucleotides, Erwin Chargraff showed
quantities of adenine equaled that of thymine and the same for guanine and cytosine, and finally
Rosalind Franklin used techniques of X-ray diffraction to reveal symmetry as well as dimensions of the
DNA( "Online Education Kit: Dynamic Timeline"). All these discoveries facilitated the discovery of the
DNA double helix by Watson and Crick, yet few are ever recognized. In contrast to the work of those
that preceded them, the duo did not even need to complete an experiment to make their discovery.
Upon analysis of the images produced by Rosalind Franklin and Maurice Wilkins, they were able to
deduce the double helix shape (Hall, 44). The overwhelming difference between the fame of the two
pairs of research partners is strongly attributed to the idea of progress in science and the positive
mindset always towards new discovery. What matters is the latest development because that
encompasses all that came before it. This favorable outlook towards constant advancement is changing
in the field of genetics. Uncertainty has arisen about the consequences of further discovery. The line has
slowly become blurred between privacy and ethical issues and the desire to make breakthroughs in
diagnosing and curing diseases. Currently, a miniscule flash drive can withhold a persons entire genetic
code, and it has been predicted that within the next few years the cost of obtaining such a completely
sequenced genome will be less than $1,000 (Holt). Back in Watson and Cricks time, any news of
scientific progression would have been met with solely positive responses, but today there is deep
hesitation regarding the consequences that could accompany this knowledge. This shift was preceded
by widespread discovery and prompted by the introduction of the field of genomics. The Human
Genome Project drove the exploration of this new field, but throughout the years spurred the surfacing
of many prominent ethical concerns. Today, people continue to experiment with genomics in a new age
where ethical implications limit the possibilities and scope of scientific research.
Discovery Before the Shift
From DNAs initial isolation in 1869 through the determination of the double helix structure in
1950 and up until about 1989, genetic research was progressing rapidly without any obstacles in its way.
This impressive growth is depicted by a timeline of the milestones in DNA research. At minimum five
new major findings occurred each decade and with every new development, scientists grew closer to
cracking our genetic code ("Online Education Kit: Dynamic Timeline"). During these years, the ethical
aftermath of the research was not even a concern for the scientists involved in any of the discoveries.
This is indicative of the fact that ethical consequences of the same magnitude as those invoked by the
Human Genome Project were not yet possible. Many of these earlier discoveries involved the genetics of
animals. They included cloning the genes of frogs or adding new genes to mice and fruit flies to make
them transgenic( "Online Education Kit: Dynamic Timeline") While some negative implications could
possibly be addressed in relation to the animals used for the experiments, no sources of hesitation
threatened to slow the progress of the scientific research. Not until the possibility of human
consequence arose did the idea of gaining more knowledge become a questionably dangerous one.
While the ability to explore genetics on the human scope was an impressive accomplishment reflecting
the advancements in science over the years, the science community began to show concern towards the
possibility of too much progress
Genomics Brings About Change
The first glimpse of change in the mindset towards genetic discovery began to surface along
with the decision to partake in an operation to decode the human genome. Genomics was a whole new
science from that performed by Gregor Mendel and other geneticists. Genetics is a study involving
simply the individual genes and its inheritance. This field has allowed scientists to make connections
between specific genes and diseases. Genomics takes this study even further and involves the entire
genetic makeup of the organism in question. It takes into account non-genetic factors as well and allows
scientists to explore disorders caused by multiple genes ("Genomics vs. Genetics: What's the
Difference). All these new abilities were exciting to the science community, but breakthroughs cannot
be made without expense. While many were supportive of this new undertaking, costs and worth were
a prominent concern. Following closely behind was the apprehension about the ethical consequences of
such a feat. Some believe that the issues raised by the human genome project are nothing new, but
rather are older problems reappearing and being approached with a new outlook. At the same time,
there are many who believe that the new view will create altered issues that have never been seen
before (Lee 236). Either way, the relevance of the human genome project and the extent of its possible
impact brought these issues into greater focus than ever before. The ethics conversation was officially
addressed in 1989 when a symposium was held in Bern, Switzerland to discuss the difficult issues that
could arise with knowing about genetic diseases before symptoms even began to show. The majority of
people saw this project as an extraordinary opportunity to gain an understanding of the genetic basis
of disease (Lee 235) and this progressive mindset still overruled. Still, the shift had taken root, and it
would soon begin to grow.

The Human Genome Project
In 1990, the Department of Energy and the National Institute of Health joined together to
officially launch the Human Genome Project. Although the studies of ethical and social implications were
factored into the plan for the program, the true extent of consideration of these topics was not yet
serious. The Ethical Legal and Social Implications (ELSI) program was also founded in 1990, but the NIH
designated just 5% of its research funds to support this initiative and the DOE a small portion as well.
The purpose was to have a program that addressed (as much as possible) the implications of the
research as the research was currently being done. Because of the scientific importance of such a
project, the DOE and the NIH decided to place guidelines on how they communicated with both each
other and the researchers in regards to new information ("Online Education Kit: Dynamic Timeline").
They knew if such information was leaked, all of their nightmares about ethics would come
true. In 1995, the Americans with Disabilities Act was expanded by the U.S. Equal Employment
Opportunity Committee to include a statement that banned any discrimination in the workplace based
on genetic information relating to disease or illness ( "Online Education Kit: Dynamic Timeline"). A major
concern was that employers access to such information could tempt them to avoid hiring those with
even the slightest risk of disease from fear that they may one day be a burden and a source of
inefficiency in the workplace. The Health Insurance Portability and Accountability Act of 1996 ensured
that individuals could not be rejected from a group health insurance plan due to any kind of genetic
evidence ("Online Education Kit: Dynamic Timeline"). Once again the act arose with the concern that
insurance companies could alter prices or availability of plans if they perceived the customer as risky
based on his or her genetic analysis. Finally, in 1998 the ELSI along with another advisory committee on
genetic testing decided it was essential to enact public policy to help the country as a whole
acknowledge both the rewards and obstacles involved with genetic testing ("Online Education Kit:
Dynamic Timeline"). These measures were all taken to prevent the hesitations caused by the ethical
concerns from slowing down the progress of the research. Unfortunately, these provisions did not
satisfy all of the worry within the science and surrounding community, and reluctance towards discovery
was still an underlying evil.
Prominent Ethical Concerns
As having access to a complete genetic code gradually becomes more affordable, the concept of
with knowledge comes power becomes more relevant. Who should have access to this power and in
what may it be abused by those who do? There are many potential issues that could come along with
knowing too much about our genetic code. The first issues lie with the genetic decoding of embryos.
Scientists are able to collect a small portion of the placenta as early as eight weeks after fertilization in
order to grow cells and copy DNA for genome analysis (Lee 269). This could give us information as to
what diseases the future child could be predisposed to or what conditions they will surely have. While
this could be a positive source of information, yielding the possibility of curing or preventing the
impending disease, the issue arises when this is not the case. For most of the disorders that geneticists
are able to diagnose, a cure has yet to be found. Genetic testing can reveal results indicating a looming
sickness that could potentially be the death of the person in the future. In other cases, it could be
identified that the child will have Down Syndrome, a survivable disorder but one that puts a lot of stress
upon the parents and the child to deal with (Lee 271). Knowledge like this puts the parents in a hard
place with an impossible decision for some. This brings up the controversial issue of abortion and
whether or not the possibility of disease is a reason to kill an embryo. Do the parents even have a right
to choose the fate of the unborn child? Even harder is keeping in mind the fact that there is always the
sense of the unknown. Mistakes can be made and testing is far from perfect, especially with disorders
such as cystic fibrosis. There is no guarantee that the results given always yield a clear or correct answer
(Lee 273). Due to the legality of abortion, a woman could choose to eliminate the embryo that is
deemed at risk for disease, but what if that was never truly its fate. No one would ever know.
Negative Eugenics
Current predictions forecast society approaching a time where everyone will be genetically
tested. More concerns arise with the idea of all members of society knowing the breakdown of their
genetic code. One possible issue is that of negative eugenics. This is where people are prevented from
mating if they have or could create undesirable characteristics. If abused, this could be an almost
pejorative process and at an extreme lead to the idea of a master race comparable to that of Adolf Hitler
(Lee 276-277). While this specific concern may seem unrealistic, the idea behind the perfect mix
connects to that of designer babies. Currently, scientists at the Genesis Genetics Institute can use a
technique called Preimplantation Genetic Diagnosis (P.G.D.) to test embryos for disease-creating
mutations and avoid implanting these embryos into the mothers body. While this allows couples at risk
of disease and afraid of passing their mutant genes onto their children to have kids, P.G.Ds abilities
expand beyond this. It can also test for characteristics such as gender and it is questioned if in the future
it will be commonplace to be selecting children for superficial traits like hair color (Holt). The fear resides
in the idea of a new kind of eugenics if in the far future favorable traits like height and skill could be
designated to specific genes as well.
Experimenting with Genomics
Despite the speed of genomics research being hindered by the ethical questions that surround
it, the world continues to experiment in the field. Currently, the U.K. is seriously exploring the idea of a
Genomic National Health Service. This would entail sequencing the genetic code of 100,000 of their
patients in an attempt to provide more specialized and hopefully more effective care. As they prepare to
attempt this feat, they are faced with the ethical challenge of privacy and safeguarding all of this
information in a large health service (Young). Innovative pursuits such as this one demonstrate the
change that has molded scientific, especially genetic, research for the future. These endeavors will
always be faced with the ethical dilemmas of the decade, but with high hopes and determined
scientists, progress can still be achieved. It will just require jumping over a few hurdles before they get
As scientists continue to research the ins and outs of the genetic code, more ethical questions
arise. With the no longer unrealistic possibility that soon every baby will be genetically screened at birth,
or employers ability to have access to their employees genetic information, it is obvious to see that the
nature of genetic research has changed. Before the launch of the Human Genome Project, these ethical
decisions that possibly loom in the near future were out of the question. Now, they may be the cause of
barriers being built to prevent the danger that research may soon be approaching. Decisions will have to
be made as to at what point a new discovery in genetics is no longer applauded but rather feared.
According to James Watson, we can prevent such atrocities from recurring if scientists, doctors, and
society at large refuse to cede control of the genetic discoveries to those who would misuse them (Lee
277) but how is it possible to judge where this information should be trusted once its discovered. No
longer can geneticists participate in the trudge-forward mindset of the science community, but rather
they must remember to watch their step and avoid any pathway that infringes upon the now
commonplace ethical issues.