Jennifer is a 39-year-old healthy woman whose grandmother
passed away from breast cancer at an early age. For this reason, Jennifer wanted to be tested for two genes mutations
associated with an increased risk for the breast cancer (BRCA1, BRCA2.) When offered additional testing the results yielded
a link to a high risk of stomach cancer. Those with the gene and a history of
the disease in his/her family are at such a high risk that surgery is advised.
The issues with treatment and preventative measures arise when results such as Jennifer’s are received but there is little knowledge
behind the meaning of the test results. Increasing technology has made it more
cost effective to sequence numerous genes instead of just one. However, some doctors worry that these new multigenetests will “open a new can of worms” fearing that the ability to uncover
new mutations has outpaced the understanding and its implication. Today tests
discover cancer-related mutations with lack of preventative measures leaving the
patient with a bleak prognosis.
Experts say that as time goes on and more people are tested,
more will be learned about mutations. In the meantime, such a dilemma will
continue to wedge a gap between genetic testing and its understanding further,
patients such as Jennifer will be left confused and unsure about possible next steps.
I believe that this could pose a problem making genetic
testing more detrimental then helpful. It is in our human nature to stress and worry when given information
that puts our health at risk. Without enough knowledge or answers to reassure
us that the results may be insignificant, the unknown can be daunting. Perhaps information such as in this article should not be discussed
with the patient until further information can accompany the results. What good
is knowing about a possible mutation without the knowledge of how it could
potential impact your life?
Personally, I would like to know all the possibilities. If a genetic test were to determine that I have a certain chance associated with the development of certain cancers, I would want to know, even if the next steps were undetermined. Stress will always occur in life, but for me, finding out would probably help me take my life less for granted.
ReplyDeleteMihir, I completely agree with you. When it comes to my health, I personally prefer as much knowledge as possible over oblivion, even when the knowledge may result in extra stress. Although there is a lack of determined preventive measures, knowledge of having a cancer-related mutation will encourage the patient to take the preventive measures he or she is in control of such as eating a healthy diet, regularly exercising, and regularly visiting his or her physician.
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