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Health promotion and disease prevention: where does genetics fit in?

Uchenna Ibelo

October 7, 2014

I remember taking a Genetics course in my undergrad years…to be honest, I wasn’t a fan of the experience.  I didn’t pay much attention nor understood the practical applications of genetics to the “real world”.  In fact, it wasn’t until HSI decided that this year’s journal theme would be Advancing Human Genetics into Health Action that I started thinking about the topic again.  After doing a little research, lo and behold, it turns out genetics has a lot to offer in terms of health and wellness.  It can enable clinicians to identify individuals at risk for developing a life threatening disease and it can provide the patient with the opportunity to take pre-emptive measures to ensure that their health remains intact. 


Consider the case of breast cancer and the “Angelina Jolie effect” as an example.  You may or may not have heard of the actress Angelina Jolie who, not too long ago, had a double mastectomy after learning that she had an 87% risk of developing breast cancer.  Rather than take any chances, she elected to have her breasts removed.  Not too long thereafter there was a significant increase in the number of women across North America and Europe having genetic testing done to see if they too were predisposed to developing this particular form of breast cancer; numbers large enough to catch the attention of media outlets around the world I might add.  For those women who had testing done and opted to have mastectomies, this decision potentially added years to their lives translating to more time spent with their loved ones; additionally it also potentially saved the health care system many dollars.  In cases such as these, where there is really nothing else that can be done to stop the occurrence of the disease, putting genetics into health action clearly has a beneficial result; but what about when it comes to genetics and preventablediseases?

Now, consider the case of type 2 diabetes, which is highly prevalent in North America.  There is a great deal research evidence to suggest that there is a strong genetic basis for this particular chronic illness (Lyssenko and Laakso, 2009).  However, my personal research interests tend to revolve around how one’s environment affects one’s behaviors more than one’s biology, so I suppose it should not come as a surprise that my initial thought towards other research findings would be: “it can’t all be due to genetics!”  While genetics will certainly play a role in identifying those at higher risk for certain diseases such as cancer, in the case of preventable diseases, I argue that much more needs to be considered than just a genetic profile.  Yes, a certain genetic profile may put a patient at a higher risk for a developing a preventable disease, but understanding the impact that the patient’s environment could play must also be acknowledged.  To focus on one but not the other is, at the very least, irresponsible and, at the very most, dangerous.  It could lead us down a slippery slope, where the layman may simply “blame it on genetics” rather than taking an active role in managing his or her health to prevent the preventable.  As clinicians, we must always bear this in mind.  There is the potential risk of overlooking other important determinants of health such as education, socioeconomic status, or how living environments can function as barriers to individuals which keep them from making healthier choices on a regular basis.  For example, it is common knowledge that regular exercise is one strategy a person can use to promote health and prevent disease.  However, if a person lives in an unsafe environment where stepping outside for an evening run could get them shot, or there are no parks or pathways nearby to go for said run, then this could contribute just as much, if not more, to the development of an individual’s poor health status.  There are other examples that could be given but my point is this: genetics needs to be paired with other social factors in order to optimize its usefulness; particularly when it comes to preventable diseases.  Furthermore, as health care professionals, we must be sure that we are combining the scientific evidence with other forms of knowledge in order to truly help patients empower themselves in regards to actively managing their health.  Advancing human genetics into health action is an exciting frontier that certainly deserves further exploration.  However, one ought to always have at the back of their mind that, at least in the case of preventable diseases, genetics and environment go hand-in-hand.

Lyssenko, V., & Laakso, M.   (2009).  Genetic screening for the risk of type 2 diabetes: worthless or valuable?  Diabetes Care.  Retrieved from October 5, 2014 from http://care.diabetesjournals.org/content/36/Supplement_2/S120.full