“Life comes with many challenges. The ones that should not scare us are the ones we can take on and take control of.” As hard as it is to believe, this is a quote from Angelina Jolie’s book about hereditary breast cancers where she encourages a more thorough integration of genomics into the field of oncology. Recently, celebrities such as Angeline Jolie have spoken out about the BRCA genes and their personal experiences with hereditary cancer syndromes. Jolie’s double-mastectomy and the media’s portrayal of her treatment have helped to drastically increase the awareness of genetic testing among the general population.
Hereditary cancer syndromes, and particularly hereditary breast cancers, are primarily associated with the genetic mutations BRCA1 and BRCA2. An individual with the BRCA genes can have over a 70% chance of developing cancer with the right combination of genetic and environmental factors. With the odds of developing cancer so high, it seems obvious that any measure we can take to lower this penetrance should be fervently supported by all medical professionals. Right?
There’s an important ethical dilemma that arises whenever we think about using these new technologies. On the one hand, genomics, the technological aspect of genetics concerned with sequencing and analyzing an organism’s genome, has greatly improved the prognosis for cancer patients. Genetic profiling can help individuals with hereditary breast cancers through every stage of their disease, from diagnosis to treatment. An interesting use of genetic profiling is using the BRCA genes to help classify tumors. Because patients with the same BRCA mutation most likely have the same type of tumor, classifying one individual’s tumor means you have classified the other’s! More importantly, by providing a means of pre-symptomatic testing, patients are able to utilize precautionary measures such as estrogen-regulating drugs and preventative surgeries like mastectomies (removal of breast tissue).
On the other hand, it is simply not possible to test every individual for the BRCA genes. For one, they are extremely costly. There is no way that a geneticist can indiscriminately recommend genetic testing to every patient as DNA sequencing tests have yet to be covered by every health insurance plan. Without insurance, the cost of one of these tests can range from $475 to over $4000. Furthermore, the results of such a test can put an individual at risk for genetic discrimination. Although GINA, or the Genetic Information Nondiscrimination Act, protects from genetic discrimination, or having to pay an inflated premium due to genetic test results that reveal a predisposition for a severe genetic disease, it only applies to health insurance and not life insurance. Having young individuals get tested for the BRCA genes comes with the possibility of hiking up their life insurance premiums later in life. Finally, an individual’s mental wellbeing is at risk because the fear of one’s diagnosis can understandably cause anxiety and/or depression.
So the question remains. Do we encourage the general public to get tested for the BRCA genes if they believe that they have a strong family history of hereditary cancers? Although there is no answer to this question that pleases all medical professionals, one thing is certain: An ordinary individual can possibly prevent cancer in his or her family with the help of genetic testing. When used cautiously, genetic testing is an invaluable tool in all stages of cancer treatment and prevention. It seems clear to me that advocating for widespread awareness of the advantages of genetic testing in reducing cancer penetrance is one of the most beneficial ways to prevent the growth of tumors in an individual and to control inheritance through generations.
Why are we waiting, then? Let’s take control and not let cancer scare us anymore.
- "GINA & Your Health Insurance." GINAhelp.org - Your GINA Resource. N.p., n.d. Web. 03 Nov. 2016.
- Moyer, Virginia A. "Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: US Preventive Services Task Force recommendation statement." Annals of internal medicine 160.4 (2014): 271-281.
- Chen, Sining, and Giovanni Parmigiani. "Meta-analysis of BRCA1 and BRCA2 penetrance." Journal of Clinical Oncology 25.11 (2007): 1329-1333.