Tracing My Family Roots

Tracing My Family Roots

I have always been interested in my family’s genealogy.I knew that my father was a Jewish refugee from East Prussia and that my mother’s parents were both Jewish immigrants from Lithuania and Belarus. Yet, I thought that perhaps having my DNA profile would show some unexpected family ancestor.

 When I got my results back, I found out that I was in fact 97% Eastern European Jewish.  One of my friends suggested that I might use a third party website to retrieve health information from my raw DNA that was actually part of  ancestry results. I very shortly received a comprehensive report with medical information retrieved from my genetic data. The most important and shocking thing that the report stated was “BRCA1 variant considered pathogenic for breast cancer.“

 Being a nurse practitioner, I knew that BRCA1 gene mutations can increase risk for breast and ovarian cancer.  My maternal grandmother did die of ovarian cancer and a paternal aunt did die of recurrent breast cancer.  However, neither myself, my mother, two sisters and numerous cousins and aunts were diagnosed with cancer. 

 Late one night, as I investigated my next steps,  I came across the website for Sharsheret.  I decided to send an email to an address on the website to find out more information about my results I was surprised to receive a phone call within a very short time from Peggy Cottrell, a Genetic Counselor at Sharsheret.  Ms. Cottrell spent a long time explaining what my test results meant.   

 Ms. Cottrell told me that I could either find a genetic counselor to arrange to have testing done, or could use testing at a medical grade online laboratory. Since I live in a very remote area, I decided against making an appointment with a genetic counselor.  In only 2 weeks, I received my report which was: “No genetic mutations were identified.”

 I was immensely relieved to receive this result. I had a deep down feeling that my first result was not correct.  Many DTC testing companies have disclaimers on their websites which warn against using the information to make medical or reproductive decisions, and it is important for users of these platforms to understand the high error rate associated with medical results obtained through them. Having now received a clean bill of health, I want to tell other women that medical grade testing should be considered to confirm any Direct to Consumer (DTC) test result. Consult with a healthcare professional to fully understand your results, and discuss next steps to safeguard your health.