Genetic Testing Reveals Present and Future Health

Now is the time to decide a critical question: How much do we want to know about what's in our DNA and when do we want to know it?

By Jeff Wheelwright
Jul 1, 2003 5:00 AMNov 12, 2019 5:46 AM
baby-blood-test.jpg
A nurse draws blood from newborn Isabel Undley at the Santa Monica-UCLA Medical Center in Los Angeles. The sample is part of a California program that screens infants for treatable genetic diseases.  | Catherine Ledner

Newsletter

Sign up for our email newsletter for the latest science news
 

Austen Muelder was born on August 20,2002, in a hospital in Santa Barbara, California, a healthy baby in every visible respect. Shortly after his birth, Austen's mother, Angela, was handed a booklet describing the blood testing that the state wished to perform on her son. 

California had begun an experimental program to screen newborns for two dozen genetic disorders, a great leap from the four tests required. Angela had no hesitation "if it was going to be for his health." With a small lancet, a nurse stuck Austen's heel. She held his foot over a card of cotton filter paper while blood dropped onto five circles in a row. When the spots dried, the test was mailed to a state lab in Los Angeles for screening. Angela and her husband, Jayson, took Austen home to grandmother Linda Fernandez's house in Ojai. Everything was fine for a month.

"A perfect baby;' Angela remembers. "He had clammy hands and feet, though," says Jayson. "That's kind of odd, we thought, the cold sweats on his feet. He had to wear socks all the time. It didn't seem like anything bad or abnormal, though. The skin clamminess signaled a serious digestive disorder. 

Within Austen's system a metabolic time bomb was ticking, yet for six weeks nobody was able to hear it. Then on the afternoon of October 4, a Friday, his parents got a phone call from the genetics and metabolic disease clinic at the University of California at Los Angeles. 

Bring your baby to Los Angeles on Monday morning, they were told, and make sure he eats regularly in the meantime. A state laboratory in Berkeley had just flashed the results of the blood test. Austen's life may have been saved by a system known as tandem mass spectrometry.

0 free articles left
Want More? Get unlimited access for as low as $1.99/month

Already a subscriber?

Register or Log In

0 free articlesSubscribe
Discover Magazine Logo
Want more?

Keep reading for as low as $1.99!

Subscribe

Already a subscriber?

Register or Log In

Stay Curious

Sign up for our weekly newsletter and unlock one more article for free.

 

View our Privacy Policy


Want more?
Keep reading for as low as $1.99!


Log In or Register

Already a subscriber?
Find my Subscription

More From Discover
Stay Curious
Join
Our List

Sign up for our weekly science updates.

 
Subscribe
To The Magazine

Save up to 40% off the cover price when you subscribe to Discover magazine.

Copyright © 2025 LabX Media Group