Do you have Genetic Variances that increase your risk to develop cancer?
When 23andMe first entered the “family tree creator”niche, I wasn’t sure I liked the idea of a company having such detailed information about ME. I didn’t rush to send my spit to them but I was very curious to find out more about my history and where my relatives came from.
I was adopted at birth and for many years only had bits and pieces of information about my birth family.In my late thirties I had the opportunity to hire a detective. Two weeks into the search the detective called me and he said “I found your birth mother and she is in Nebraska. She wants to connect with you.” I will always remember that day, where I was, who was with me and the overwhelming feelings of joy, fear, gratitude and apprehension.
I went from being an only child to gaining 4 siblings, multiple cousins, aunts and uncles and a very interesting family story.One of the most important aspect of finding my birth family was getting a glimpse into the medical history and illnesses of my family. As a child born in the 60’s, illness and Cancer were not talked about and often we did not know what the primary cause of death was of our relatives. Neil Simons’s “Brighton Beach Memoirs”,captured the attitude perfectly in a scene describing how “cancer” was never said out loud,but only whispered.We did not know,nor have the technology that we have today and most of all, people did not talk about themselves or their health conditions to anybody.
Fast forward to 2020 and we now have precision medicine. Precision medicine uses the genetics and biochemical information of drugs to create medical care for a specific group of patients. We see this used when fighting cancer cells by creating medicines that target and destroy the cancer cell without destroying other cells.We have also identified biomarkers that tell us if and how our body will react to over 200 prescription medicines. We are living in an unbelievable time.
The science of pharmacogenomics analyzes the response of our individual genomes to drugs. Our genetics can determine if certain drugs are able to be metabolized and used by our body or if they provide no benefit. I wanted to learn and understand this new science and see if I could apply that knowledge to help my patients. I became a certified pharmacogenomic pharmacist. I decided I would be my first patient and see what my own genetic make-up identified. I ordered a kit from 23andMe and the results I received were more than I imagined.
In addition to be able to read my own raw data and apply my knowledge to my own genetic make up and see specific risk factors, I was connected to new family members.Without 23andMe I would never have been able or have the opportunity to meet my relatives. I was connected to my birthfather and his family, and my maternal great uncle. More missing links of my family tree were found.
Through this process I found out that the “Chek2” gene and “The Lynch Syndrome” gene was in my family and could be past down to me.Breast and Colon Cancer I now know is very prevalent in my family on both sides and this was reason enough for my doctor to order a more specific screening tool for cancer genes. After receiving the results I met with a genetic counselor at Sloan Kettering to discuss findings.It was confirmed that I carry both of these genes, and now I had the information and could decide on a plan with my doctors how to mitigate my risks.
At age 59, never having had children and now knowing my family history, verified cancer gene profile and establishing my risk factors for developing cancer, a hysterectomy was scheduled.Colon and more frequent breast cancer screenings also scheduled. Knowing that you have these genes gives you power, control and the knowledge needed to take the best preventative actions. There are no quarantees that if you do all of these processes that you will never get cancer. But isn’t it better to have options so you can lower your risk? Knowledge is very powerful and gives you choices.Taking action no matter how big or small is always better than not taking action.
Six years ago I was hospitalized and diagnosed with a form of an autoimmune disease, Giant Cell Arteritis and treated with high doses of corticosteroids. My symptoms did not fit the symptoms of a normal Giant Cell Arteritis patient.It took a 5 day hospitalization and over three months to get to this diagnosis.I now have an understanding of how my genes play a role in my health, such as genetic inflammatory variances, and I feel I have some control in my treatment choices.Living during a time that I have no control over many aspects of my life, being able to use these tools and get back some control is a great feeling.
