Tuesday, February 02, 2010

New Genetic Test Helps Prevent Baby Illnesses


A new form of screening, called the Counsyl Universal Genetic Test, could help people find out if they are likely to have children with a rare, inherited disease or some sort of devastating illness.

Unlike traditional genetic tests, which require a blood sample to look for one specific disease, this new test uses only a little saliva to check for genetic markers linked to 109 inherited diseases from cystic fibrosis and Pompe disease to sickle cell disease and Tay-Sachs.

The cost for this procedure is $350. Counsyl screens samples at it's lab in Redwood City, California, looking for more than 400 genetic mutations. The results are available in less than 1 week.

If the man and woman both test positive for the same disease, they have some options to try to protect their future children. The couples could go through in vitro fertilization, for example. Doctors could check each embryo and implant only the ones that appear free of disease.

Many geneticists are excited about the new test, but do urge caution. There are many disease-causing mutations that the test does not cover. Some of the mutations targeted in the test are so hard to interpret that some couples could go through the expense and anxiety of in vitro for no reason.

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