Author: Eunice Lozada-Delgado
Recently, there has been great advances in DNA sequencing
techniques where you can determine the specific sequence or parts of it of your
own DNA. What DNA sequencing does is identify the specific sequence of the four different letters that make up your identity in your cells. Using this approach you can identify possible mutations or changes in specific
genes that can make you prone to a disease. These gene mutations are also
called biomarkers, and these have been found by different researchers. This has
made emerge companies that provide this service where they do the testing for
the specific mutations known in the disease that you could have inherited and
are interested in testing for. Most of these tests are focused on different
types of cancer, although there are tests for other inherited diseases like
heart disease and Rheumatoid Arthritis1,2. The company that began
with these cancer genetic tests is Myriad genetics2. They provide
kits that you can order and provide your DNA either through a blood sample or
an oral rinse. Then they send you your results as positive or negative for each
mutation on the genes and, with the help of your physician, determine if there
should be any precautions made. Also, lately the prices for these tests have
dropped because more companies are providing the service. You can find
these tests ranging $300- $5,000 depending on the test. Additionally, it should
be noted that not all cancers emerge from inherited gene mutations, in fact most
don’t. For example, only about 1 in 20 (5%) of women diagnosed with breast cancer
every year carry an inherited gene mutation like BRCA13. But, if you
are part of a family with a long history of a disease, like a type of cancer,
then it should most likely be because of an inherited gene mutation related to
the disease.
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A recent example that has been made public of a celebrity
that tested for the BRCA1 and 2 genes, mutations known to provide high
susceptibility to woman to acquire breast and/or ovarian cancer, was Angelina
Jolie. She tested for these two genes because her own mother died of ovarian
cancer and she wanted to know if she was prone too to be able to take the precautions
needed to live for her children. She actually turned out to have a mutation in
one of these genes, the BRCA1, which in her case gave her an 87% probability of
developing breast cancer and 50% of developing ovarian cancer. This is why she
took drastic measures to lower her probability of acquiring breast cancer by
having a preventive double mastectomy. She has even made it public herself to
serve as an example for women that don’t know that these options are available,
even if they still are too expensive for most people. She even wrote an article
for The New York Times telling her
story for the benefit of others4.
In summary, we now know the options of genetic testing for
the detection of gene mutations related to specific diseases like cancers. The
Angelina Jolie case was used as an example even though this doesn’t mean
everyone is the same. Not all should end up doing the surgery as she did, since
everybody is different and there are other options like intensive surveillance
using mammograms or MRI scans. The purpose of this entry was to provide a brief
and general sense of what is currently happening in this emerging area of
genetic testing. I hope it has been of good information to the readers. You can comment below with any questions.
References:
33. Scowcroft,
Henry. Angelina Jolie, inherited breast cancer and the BRCA1 gene. (2013). Cancer Research UK Science Blog. <http://scienceblog.cancerresearchuk.org/2013/05/14/angelina-jolie-inherited-breast-cancer-and-the-brca1-gene/>
44. Jolie,
Angelina. My Medical Choice. (2013). The
New York Times. <http://www.nytimes.com/2013/05/14/opinion/my-medical-choice.html?_r=2&>
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