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Gene Test finds Disease Risk

Jan. 17, 2011 10:26 AM ET
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A new test for genetic mutations in parents might help prevent conception of babies with deadly inherited diseases.                              

In developing the test, the researchers found that people may have an average of 2 to 3 recessive genetic mutations that could give their children 1 of the diseases in findings published in the journal, Science Translational Medicine.

  • The test was designed to check for carrier status whether a person’s genome has a copy of 1 of 448 diseases that cause catastrophic childhood disease.

Most US newborns get tested at birth for a range of genetic diseases such as the metabolic disorder phenylketonuria, which can cause brain damage unless the child sticks to a strict diet for life. There are tests that adults can take for recessive diseases such as cystic fibrosis and Tay-Sachs disease. If both parents turn out to be carriers, they can use lab techniques to conceive and test embryos, choose adoption or other methods to avoid having an affected child. But, there are hundreds of other diseases that are not tested for and most people have no idea whether they carry a gene mutation that could put their children at risk.

  • The vision of having a test that had the potential to eradicate dangerous genetic childhood diseases is probably feasible.

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