Genetic Testing: The next step to untapping the Human Genome by digitalblade


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                   Yavor Mishev

                   A BSTRACT
                   The following paper explores the science behind genetic testing, its different variations,
                   commercializing the technology, and the ethical and moral implications this recent
                   technology has had on society. The paper discusses why genetic testing is not only
                   ethical, but essential to promoting health, and what aspects of it should be better
                   regulated to assure higher standards and more public acceptance.
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The human species has existed as we know it for over 200,000 years. Yet it is
only within the last 140 years that we have become aware of DNA and the
human genome, and even less since we have been able to isolate and
manipulate it. In this short time we have learned incredible amounts of
information about ourselves and subsequently how to treat many of the
diseases that used to defeat us. A large part of it is thanks to genetic studies and
microbiology. Thanks to technologies developed in the last century, the human
race has been able to advance in the battle against diseases that were thought
incurable before that. Genetic testing has a large part to play in that battle.
Although it has been the subject of major controversy, genetic screening has
many benefits that if utilized properly, can help shape a technology that is both
ethical and powerful in saving lives.

Genetic testing can trace its origins to the discovery of Deoxyribonucleic acid
(DNA) by Friedrich Miescher in 19691. Following the groundbreaking discovery,
it was not long until scientists were able to link DNA genetic information that is
carried over from ancestors2. DNA is responsible for carrying genetic
information, such as physical traits (hair colour, eye colour, physical structure,
etc), as well as carrying down genetic disorders such as Down syndrome,
Haemophilia, Phenylketonuria, amongst hundreds of others3. Because of that,
scientists discovered that a disease that ancestors may have exhibited can be
carried over through DNA to future generations. It wasn’t until 1972 that
scientists successfully isolated DNA from a virus and combined it with bacterial
DNA, essentially giving birth to genetic engineering4. Ever since, scientists have
consistently discovered new ways to completely prevent, cure, or lessen the
effects of a number of genetic diseases.

There is an ongoing debate in the scientific community as to whether genetic
screening is ethical, moral, or accurate. One of the main issues today is known
as genetic discrimination, which means that people may be treated differently
based on gene mutations or irregularities by employers or insurance companies.
Patients who undergo genetic testing usually have their results published in
their medical records. Those records are often examined by life insurance
companies, and employers. This is pushing a lot of people against genetic
testing simply because of fear that it may affect their ability to find a job or get
insurance5. In response to these concerns, the U.S. government very recently
passed a bill that makes genetic discrimination a crime6. Indeed, information like

  (Dahm, 2008)
  (Lorenz & Wackernagel, 1994)
  (National Human Genome Research Institute, 2009)
  (Devore, 1992)
  (Harmon, 2008)
  (President Bush Signs Genetic Nondiscrimination Legislation Into Law, 2008)
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that is very sensitive and should be kept private if possible. Even if keeping the
information private is not possible, it should have no negative effect on a
potential consumer. As long as the results are used for information purposes
only by the individual tested so that any genetic disorders or potential
complications can be monitored and prevented, the technology is completely

Another issue raised by opposition is the fact that companies are
commercializing the practice of genetic screening, a type of testing known as
Direct-to-consumer (DTC) genetic testing. This type of testing is directly
accessible to the consumer, allowing for bypassing of a healthcare professional
and getting the test directly. A test like that involves a professional getting the
permission of the c
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