The recent announcement about TODAY Show contributor Jill Martin’s breast cancer frankly stopped me in my tracks as I was heading out of my hotel room for a business breakfast. I sat on the bed and watched Jill describe how a genetic test may have just saved her life. There she was, smiling through her tears, so vulnerable yet exposing details of her story to warn others that breast screening alone is not enough. You also need to understand your hereditary risk to really know your breast cancer risk.
I decided to skip breakfast and just sat for a while, thinking about the impact of her story. I would never wish a cancer diagnosis on anyone, but I must admit, it is the ultimate teaching moment! Jill’s story is all our story. How many of us have even thought about having genetic testing? And for those of us who had genetic testing, did we do it because of a personal experience with a family member, close friend or even hearing about a famous person? Genetic testing is not the standard of care, and that needs to change.
What sets Jill’s story apart from others is that her cancer had a high probability of being missed by current breast care screening practices. Jill’s mom survived breast cancer and her genetic test showed no BRCA 1 and 2 genetic mutations. So, it is understandable that Jill based her own risk on her mother’s cancer experience and risk factors. We would all naturally do that. The difference in this here is that Jill had a wise doctor who suggested that she get a genetic test to be safe. The test revealed that Jill was BRCA 2 positive with an inherited gene from her dad’s side. Wise doctors, we all need wise doctors who are well versed in risk assessment as a means of prevention. While Jill’s cancer had already developed, the genetic test was the reason she received additional testing that found her cancer earlier. Ironically, Jill had also received an all-clear report from her recent mammogram which was another factor that made her feel safe from cancer.
So, what do we learn from this? Will Jill’s experience make an impression and spur more doctors to offer genetic testing? Will Jill’s successful story inspire more women to seek genetic testing? How many missed cancers are already developed, growing, waiting to be found? This experience needs to be a teaching moment that sticks.
My advice for physicians is to familiarize themselves with the growing recommendations to conduct risk assessment on patients and to perform assessments by 25 years old or the soonest possible age after that. Hereditary mutations, like Jill’s situation, are not apparent or predictable. A genetic test is the means to enable prevention and early detection that saves families from cancers. Also, please educate your patients about risk assessment and offer them this potentially lifesaving test.
And for patients, I recommend that you educate yourself on risk assessment, genetic testing, and the history of cancer in your own family. The process of risk assessment can start with a conversation with your health provider. If your provider dissuades you, ask who else can help you with a risk assessment and start taking charge of your breast care.
As Jill mentioned in one of her recent interviews, “I am talking about this not to scare you, but to raise awareness so that maybe you can be tested and identify a BRCA or other genetic mutation earlier”. I feel the same way, cancer is scary, so we do not want to think about it. But we cannot let fear of finding out something bad take our power away. Knowledge is power and that is really what is Jill’s underlying message. Empower yourself with knowledge about your health so you can take the appropriate actions. Risk assessment and genetic testing gives power not only to patients, but to their providers to prevent and detect cancer earlier.
References:
1. Drohan B, Roche CA, Cusack JC Jr, Hughes KS. “Hereditary breast and ovarian cancer and other hereditary syndromes: using technology to identify carriers.” Ann Surg Oncol. 2012 Jun;19(6):1732-7
