Continuing
the discussion from last week of genetic testing, this article is based upon
Angie Watts, a 44 year old woman suffering from breast cancer. Unlike
Huntington’s Disease, which is a dominate condition meaning if you possess the
gene, there is a one hundred percent chance that you will develop the disease,
the genes linked to breast cancer do not give definitive answers. Even with the
$215 million dollar precision medicine initiative from President Obama, genetic
testing and genetically personalized medicines from cancer are proliferating,
but unfortunately not in the case of breast cancer. Despite the genetic data
now available, doctors have not been able to decipher the clues behind this
disease.
Angie
Watts received a lumpectomy for her breast cancer last year and was ready to
start her radiation therapy, yet her doctor shocked her with the news that she
had inherited a specific gene alteration that may induce the growth of her
cancer if radiation was applied. Due to this issue, her doctor suggested a
double mastectomy. The next doctor she spoke to advised her to go with the radiation
therapy as he claimed the mutation in her genes was not known to be harmful. Going
from doctor to doctor, Ms. Watts heard new sides of the story until a group of
doctors finally came together and told Ms. Watts that the decision was up to
her.
The
story of Ms. Watts shows how much more is left to learn about genetic testing
and how it can be applied to cancers, especially breast cancer. Although we
have all of this technology and can sequence genes relatively easily, we don’t
necessarily know what the genes and mutations mean yet. The main issue comes
when there are multiple mutations found in a person’s genome. Many of these
mutations will come together and it can be extremely difficult to prove which
mutation is the driver of the cancer. Even if this driver is identified, there
often is not a drug marketed targeting this gene.
In the
case of Angie Watts, she chose to take her chance with radiation and is now
doing well, but she admits, “It was scary. There are times I regret ever having
genetic testing.” Although this uncertainty exists, genetic tests should still
be taken because there are certain mutations that are known to greatly increase
one’s risk of cancer, which is in the end very valuable information. Going into
this testing, patients need to be aware of this ambiguity. A few decades ago,
breast cancer was in the lead in terms of personalized medicine, but it seems
that lately breast cancer has been left out and is now lagging due to its
genetic vagueness.
Sources:
Kolata, Gina.
"When Gene Tests for Breast Cancer Reveal Grim Data but No Guidance."
The New York Times. The New York
Times, 11 Mar. 2016. Web. 13 Mar. 2016.
This is a somewhat sad story. Being told that the decision you make could determine the outcome of your life is certainly scary. I think that everyone admitted for cancer should be given genetic testing to determine the best course of treatment with the highest rates of survival. I think geneticists and oncologists should team up to determine cures for cancers or at least a method for extending the life of a cancer patient.
ReplyDeleteThis is a terrifying event. Being told two different things by doctors is definitely not what you want when going through something as serious and life threatening as cancer. You would want your doctors to be on the same page, not telling you two different things and leaving a major decision such as that one up to you.
ReplyDeleteDue to genetic testing, poor Ms. Watts has to wonder if her decision to receive radiation was correct. If her cancer returns, she will have to wonder if a bilateral mastectomy could have saved her life. Genetic testing can be helpful in saving lives but should only be used when the information is useful. Genetic testing also does not prevent the need for preventative testing and screening.
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