I remember it all so vividly: Our conscientious and compassionate geneticists had given us an ultra-rare diagnosis: hereditary spastic paraplegia type 47 (SPG47). There were nine others diagnosed in the world that they knew of at that time, and no one was researching treatment.
From Information and Entertainment to Actionable Medical TestsIf you were a fan of the Winter Olympics like I was, perhaps you saw the seemingly endless parade of TV commercials for AncestryDNA and 23andMe, two of the biggest direct-to-consumer (DTC) genetic testing companies. If you are not fami
I’ll never forget the day I sat across the table from a mom and her two adult daughters, one of the daughters herself a new mom of a baby boy. That day, I was able to give the three women some very good news: neither the two daughters, their children or future children were at risk for a life-threa
The holiday season requires you to contemplate carefully what to get that person in your life who already has everything. Gift cards are a safe bet, you think, but then you flip to a magazine holiday gift guide and see it: a DNA test. A dozen years ago, it would have sounded absurd
Now more than ever, people are engaged in their healthcare decisions and have greater access to information about the role their genetics play. Because of that increased involvement, they are sometimes presented with complicated information – like genetic test results –