Column

Family Matters

Building a robust personal and family healthy history is empowering.

One of my resolutions for 2016 is to practice what I preach. I preach a lot about patient empowerment and taking control of one’s health, and part of that starts with knowing your family health history. I am embarrassed to admit that I haven’t captured mine adequately. I thought I knew everything I needed to know from my immediate family. My mom died young from a hospital-acquired infection. My dad lived in good health until he was 90. My siblings, apart from one who suffered from breast cancer, are all relatively healthy. My kids both have celiac disease, an autoimmune disorder. (You can learn more about celiac on page 56.) What more did I need to know?

Last Thanksgiving, my brother arrived with three pages of health history going back four generations on my dad’s side of the family. I immediately transcribed the information by scribbling our family tree on scrap paper in standard pedigree formats: circles for females, squares for males, lines connecting everyone to show how traits and genes are transmitted from one generation to the next.
Compiled by my aunt, the health history was patchy, but it gave me a sense that I had inherited some pretty hearty Polish genes. No patterns suggested any looming health issues. In fact, I was pleased that my grandmother, great-grandmother, and great-great-grandmother all lived into their 80s! Many of my relatives even died peacefully in their sleep. But then I found something that gave me pause. My great-great-grandfather died at age 45. Cause of death: collapsed walking home from a music job.

My mind darted back to 2014, when I had my genome sequenced and found that I carry a mutation for Long QT syndrome, a heart condition that can lead to sudden cardiac death. I had dismissed this finding. After all, I had no family history of sudden cardiac death. Had I been wrong? Could my great-great-grandfather have died of this very thing?

I thought I was done with my genome. Like many others who have had their genome sequenced, I found the anticipation exhilarating but the findings boring, and I’d initially dismissed them. But now, knowing my family history, my interest is sparked again, which makes me believe that we should never stop being curious about our genomes.

In this issue, you’ll read about what healthy people can learn from sequencing their genome (page 48). For some, a piece of information that isn’t relevant today — for example, a genetic variant that predicts an adverse side effect from a drug — may become relevant when that drug is prescribed. For others, knowledge of their genome may give them insight into unexplained disease symptoms or traits. Recent research by Robert Green at Harvard University found that customer interest in personal genomic testing is driven as much by the ability of genetics to explain existing medical conditions as it is by the ability to predict future disease.

Still other people who have had their genomes sequenced are driven to look deeper for signs of diseases their genome says they should have. At a recent Understand Your Genome event, I learned about a person who went through whole genome sequencing and found a mutation strongly linked to neurofibromatosis, an inherited disorder that causes tumors to grow on nerve tissue. He was ostensibly healthy, but a trip to the optometrist later revealed that he indeed had signs of the disease in his eyes.

For me, my genome sequence has kept me engaged and ultimately brought me back to something familiar — collecting and exploring my family history. Seeing my own four-generation family health history has motivated me to continue the legacy for my children. New and freely available online tools, such as the U.S. Surgeon General’s “My Family Health Portrait,” make it easy to capture and share family history with relatives and healthcare providers. It’s ironic that in this age of high-tech everything, something so basic as collecting your family health history can feel so empowering. Even if you don’t have a legacy of health information, you can start with yourself to build a family history for you and future generations.