Amanda Xi, Medical Student, 11:09AM May 15, 2013
In the fall of 2010, I was introduced to the BRCA tumor suppressor gene through my Ethics and Enterprise course. I remember wondering why we were watching a documentary called, "In the Family" in lieu of our usual guest speaker. The movie features the filmmaker, Joanna Rudnick and documents her emotions after discovering her positive BRCA mutation status. She also turns her camera toward Myriad, the company that currently holds patents on the BRCA1 and BRCA2 genes.
At the conclusion of the screening, I felt my eyes swell up with tears. Luckily, my negative family history helps alleviate some of the concern over genomic anomalies in my own cells. However, I know a significant number of women that have had to fight breast cancer. Genetic testing adds another layer of complexity an already stressful situation.
Angelina Jolie's New York Times editorial, "My Medical Choice" reminded me of the full impact of BRCA genetic testing. I have always had an interest in medical genetics - the idea that there is story behind the code within each of our cells brings me hope for the future of medicine. Personalized medicine is slowly coming to light and I am excited to see its application to treating illnesses. However, we have a rudimentary understanding of how specific changes in an individual's genome ultimately impacts their health. This leaves the patient with a positive marker left to make the "right" decision with little indication of what that even means.
Last year, I shadowed a cancer geneticist. I had the opportunity to take part in a counseling session with a patient prior to taking the BRCA test. In the same hour, I watched an unaccompanied woman crumble when we delivered her positive test results. When I left the clinic that day, my head was spinning with all of the variables that were compounded into this seemingly simple test. Being BRCA positive meant there were more questions to be asked and decisions to be made. But being negative meant guilt about a sibling or relative's positive result. An inconclusive result might be the most emotionally taxing result of them all.
I'm glad that Angelina's piece was published. It raised an important issue that warrants discussion. However, I'm concerned about the potential uptick in requests for genetic testing in response; these women (and men) may not be ready to open Pandora's box.