STAT, August 17, 2016
I know it sounds strange, but I feel very grateful to a database. It saved me from a lifelong fear of dropping dead because my heart will give out.
The database is known as ExAC, and I had my first experience with it after I got my genome sequenced. For a few weeks, I brought it from one lab to another to ask scientists to help me make sense of it.
Their analysis brought up a doozy of a finding. I have a variant in a gene for heart muscles, called DSG2. Some studies have indicated that having a variant in just one of your two copies of DSG2 can cause a rare condition called arrhythmogenic right ventricular cardiomyopathy.