Should
Genetic Testing be Done with a Medical Professional?

            These days, everything is available at the touch of a
button. The innovation of our technology has transformed our world. Technology
has allowed us to communicate with ease, find information, and improve medical
efficiency.  One of the major
breakthroughs we have had is the production of genetical testing. This medical
innovation has allowed people to test for simpler trait such as hair color and
height, but also for more serious traits such as susceptibility for certain
diseases and genetic disorders. Some examples include cancer, birth defects, or
genetic illnesses such as neurofibromatosis. In normal circumstances, genetic
testing is done in the presence of a medical professional, specifically a
genetic counselor who can both accurately read results, and help counsel the
clients about the benefits and drawbacks of testing. But since our medical
technology has developed, there are now options for direct-to-consumer genetic
testing. This enables consumers to buy kits to test for genetic disorders or
traits without going to a medical professional. While some may think that
direct-to-consumer genetic testing would be more cost-efficient, confidential,
and practical, going to a medical professional for genetic testing guarantees a
more accurate result and there will be more resources available to help,
including further investigation, counseling, and possible treatment.

            While some may think that using direct-to-consumer
genetic testing is more practical and efficient, when checking for serious
genetic disorders, it is vital that a medical professional is there to make
sure results are accurate and that all possibilities are accounted for. It has
been acknowledged by the American College of Medicine Genetics (ACMG) that
using direct-to-consumer genetic testing holds the risk of “inappropriate test
utilization, misinterpretation of test results, and lack of necessary follow-up.”
(Marietta 2009) Take for example, neurofibromatosis, a rare and non-curable disease
that can possibly cause death. If you were to get genetically tested for this
disorder, doing it in the presence and care of a medical professional would
guarantee a higher chance of accuracy in determining one’s probability of
getting the disease. It has been shown that 79% of people who are advocates of
direct-to-consumer genetic testing are advocates because they want to be able
to find out their own or children’s risk for disease. (Roberts 2013) However, according
to Jessica Stransky, a member of the genetic counseling program at the
University of Maryland, most people will not be able to interpret results
correctly, and that can lead to confusion or anxiety, both of which are bad for
one’s health. (Cleary 2011) If a random person was told that they were at risk
of passing neurofibromatosis to a child, they would not understand how it is an
autosomal dominant disorder and how it worked. They would likely fret or
rethink their decision to have a child. Small symptoms that might not be
related the disorder would also frighten concerned parents. On the other hand,
if one were to do a test under the care and jurisdiction of medical
professionals, a genetic counselor would be immediately available to help
answer questions, address concerns and provide information on how to get
treatment, things to do to help prevent the disease, or further tests that may
need to be done. In the case of neurofibromatosis, a mutation in the NF1 gene
would be what causes the development of the disorder. At a lab, the high tech
and quality machines would be accurately check for mutations while a test
ordered online may give false or hard to read information that might be wrong.  Think about it. A single mutation in the gene,
such as an adding an additional base or taking one away, could completely
change or render a protein non-functional. Would you want to trust a genetic
test that was ordered online to give you such vital information?

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            In conclusion, genetic testing is a big deal and is not
to be taken lightly. By testing with a medical professional by your side, you
are assuring the best and most accurate results possible, and a full explanation
of what to do now that you have your results. The complexity of our DNA is
something that is best put in the hands of someone who has gone through
extensive training and practice. Direct-to-consumer genetic testing should not
be made available to consumers.

            

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