Using DNA Testing to Learn More About My Family History

Family history evolves and expands over time – the importance of regularly re-visiting the family history is very clear in the story I want to share. My mom is the oldest of 5 children, and I’m the oldest grandchild. I knew my grandparents as relatively young people, and have had an opportunity to watch my mother’s family’s medical story unfold. I remember thinking I was very lucky to have known all 4 grandparents, and we still have precious photos of 5 generations of family members. I also recall feeling a bit smug about how healthy my husband and children were and that we were good for our health insurer because we weren’t on any medications and never needed more than preventive care. Those “feel good” moments began to fade as the family aged. I was 24 when my grandmother was diagnosed with fallopian tube cancer at age 65. She died 5 years later of liver metastasis. I think collectively we all thought her disease although rare was just random bad luck, but 20 years later, when my mother was diagnosed with Gallbladder Cancer at age 63, I started to wonder about how “random” this bad luck was. Mom was lucky, it was diagnosed early and she’s been disease free since. I started to gather more family history, and learned that one of my mother sisters had gallbladder disease and underwent a cholecystectomy at the age of 26 and that another sister had her thyroidectomy at the age of 25 for thyroid cancer. 

Most of the women in my mother’s family (including me) were also diagnosed with uterine fibroids. Where did my “healthy family” go? The story didn’t end there. In 2008, I was diagnosed with a benign brain tumor. Although not typical cancerous, meningiomas are not particularly good to have growing in your brain, because there’s not much room for them to grow, and they begin compressing important things, like optic nerves, causing blindness, seizures, headaches, etc. I had a craniotomy and a year later had radiation to stop the fragment that remained from continuing to grow.

When direct to consumer genetic testing became available, I signed up, because I wanted to see what they could tell me about my genes. My husband and our 2 children also had the testing done and it’s been fascinating to learn about our bodies from the “inside out”. We can explore how the genes recombined in our children, it has generated many long and wonderful conversations between the 4 of us, and our children are now very well informed about our family health history partly because of our conversations, and partly because the genetic information is sitting there waiting to be explored. 

This isn’t all been all about entertainment. Recently, 23andMe reported on a “gallbladder disease” gene. The population risk for gallbladder disease in a woman my age is about 14.1%, my risk was nearly 22% however, because of a particular gene I had inherited. 22% is not 100%, but it’s not 2% either, it’s 1 in 5. 

I asked my primary care provider this question: “given my family history, and my genes, would it be reasonable to have a Gallbladder ultrasound”? He was very comfortable ordering the test, because it is non-invasive and relatively inexpensive test that could potentially save money if I had undiagnosed gallbladder disease that could be treated early.

The “take away” message for me is that family history is a very important screening tool that needs to be regularly updated. Genetic testing can be a useful adjunct to the family history, and I was not surprised or alarmed to find I was at increased risk for gallbladder – it was clearly spelled out in my history. The challenge is for healthcare providers to figure out how to handle the questions that people like me have about their risks.