7 Healthcast: Genetic testing
A simple new test could tell you all kinds of things about an unborn baby, including its risks of developing certain diseases.
Doctors are calling it an exciting medical breakthrough, but it could open the door to all kind of new ethical questions.
They're the things many wonder when they're expecting a baby. A new medical breakthrough could provide answers to those questions and detect serious genetic disorders.
Researchers at the University of Washington mapped the DNA of a fetus simply using a blood sample from a pregnant mother and saliva from the father.
This revolutionary technique could become an alternative to procedures like amniocentesis.
“Tests today, in order to definitively diagnose a genetic disorder prenatally, require the use of an invasive procedure such as amniocentesis…what this test does is allow someone to get same information but non invasively," said Dr. Jay Shendure.
The new test could one day be a routine screening tool for more than three thousand genetic disorders…including down syndrome, Huntington’s Disease and cystic fibrosis.
“Many of those diseases are now treated after the kids are born....so you can imagine by even potentially supplementing them in utero, that might improve outcomes,” said Dr. Shendure.
While the ability to identify chromosomal abnormalities before birth has its benefits, some warn these types of scientific advances open the door to a host of ethical concerns.
That's because parents could potentially get information on genetic markers that might increase the risk of heart disease or certain types of cancer.
“What about heredity deafness? We can tell you your fetus is going to be born deaf. Some people may say, ‘I don't want a deaf child,’ Other people may say the child's still otherwise a normal child. Where do we draw the line?” said Dr. Robert Klitzman.
“This technology is not ready to go until next year, and as a consequence I think that kind of buys us some time,” said Dr. Shendure.
Enough time to have conversations about how a screening tool like this and the information it provides should be used.
“We need to respect parents' choices but there may be limits. Where we say for screening for homosexuality or intelligence that's someplace we don't want to go,” said Dr. Klitzman.
In the meantime, the technology is moving forward with the hope that soon, doctors will be able to diagnose and treat a problem before it ever appears.