Stephen Quake: What can the DNA in your blood reveal about your health?

In our 100th episode, we meet the scientist who answered this question and revolutionized everything from detecting Down syndrome to cancer. In The Future of Everything’s 100th episode, bioengineer, physicist and inventor Stephen Quake recounts a personal experience. When Quake’s wife was pregnant with their first child, doctors performed a common but risky procedure known as an amniocentesis. Using a long needle, they pierced his wife’s uterus through her abdomen to grab a few cells from the amniotic fluid surrounding the fetus to test for genetic diseases and abnormalities. The child was fine, but to Quake and his wife the test felt like an invasion. So Quake, a renowned bioengineer and physicist at Stanford, decided to do something about it. He invented a blood test to replace amniocentesis. It turns out that a small percentage of the DNA floating around in every mother’s bloodstream comes from the fetus. And that cell-free DNA, as it’s known, can be tested for the same diseases and abnormalities that amniocentesis can reveal, all without risk to the mother or child. Today, 4 million expectant mothers each year get Quake’s blood test, and use of amniocentesis is quickly fading as a diagnostic tool. Little did Quake understand at the time that his lab would set off a revolution of sorts, leading to a remarkable array of similar blood tests that can detect everything from cancer to hidden infections to tissue rejection in transplant patients to premature birth – all weeks or months earlier and less invasively than existing techniques can. Join host Russ Altman and Stephen Quake for The Future of Everything radio show’s 100th episode. You can listen to The Future of Everything on Sirius XM Insight Channel 121, iTunes, Google Play, SoundCloud, Spotify, Stitcher or via Stanford Engineering Magazine.