Smart Woman: Genetic Testing Advancements
By: Maxine Ridling
Updated: June 11, 2012
Ultrasounds can tell expectant parents a lot: How the big the baby is, how the pregnancy is progressing, whether it's a boy or a girl, but now researchers say a new test has been developed that would reveal the entire genetic blueprint of a fetus still in its mother womb.
It's done by taking a blood test from the mother and a saliva test from the father.
Existing tests like the amniocentesis can detest chromosome abnormalities like down syndrome, but this new breakthrough testing can detect more than 3,000 diseases, highlighting genetic mutations in a baby's genome code, such as if a child is predisposed to cancer.
Jay Shendure, an associate professor of genome sciences at the University of Washington heads up the research team developing the new procedure, which if used now would be costly. Shendure says as much as $50,000 for each test. It raises a host of ethical questions, will it lead to positive selection: Parents seeking certain traits in their unborn babies.
Some of the mutations are definitive -- that is, a child will be born with a disability -- but other mutations are less certain.
The genome map indicates only that a fetus has a greater likelihood of developing a disorder.
But researchers like Shendure say the implications are immense.
If doctors know ahead of time a child will develop a certain medical condition, it can lead to early intervention.
It's done by taking a blood test from the mother and a saliva test from the father.
Existing tests like the amniocentesis can detest chromosome abnormalities like down syndrome, but this new breakthrough testing can detect more than 3,000 diseases, highlighting genetic mutations in a baby's genome code, such as if a child is predisposed to cancer.
Jay Shendure, an associate professor of genome sciences at the University of Washington heads up the research team developing the new procedure, which if used now would be costly. Shendure says as much as $50,000 for each test. It raises a host of ethical questions, will it lead to positive selection: Parents seeking certain traits in their unborn babies.
Some of the mutations are definitive -- that is, a child will be born with a disability -- but other mutations are less certain.
The genome map indicates only that a fetus has a greater likelihood of developing a disorder.
But researchers like Shendure say the implications are immense.
If doctors know ahead of time a child will develop a certain medical condition, it can lead to early intervention.
