The new DNA technology neonatal screening 193 kinds of diseases

According to the MIT’s official website recently reported, a new DNA testing technology announced by a U.S. company can screen 193 genetic diseases such as anemia, epilepsy and metabolic disorders in neonatal genes.

In the United States, the government recommends screening for newborns and testing for at least 34 diseases. The current standard test method is to take a small portion of a blood sample from the infant’s heel. And this $ 649 DNA test project can be used as an additional option, just take a little saliva from the newborn’s mouth can be.

Eric Schmidt, the chief executive of Sema4, a U.S. company developing the test technology, said some parents may want more information about their child’s genes than the standard tests offer. Some people take years to get the correct diagnosis of some genetic diseases. “If you get ahead of time with the chances of getting a common disease when you are born, you have a better understanding of your child’s health, and we think parents will do their best to make their child the most healthy life.”

It has been reported that Sema4 uses DNA sequencing to examine genome subsets, rather than the entire genome, and there are already some available treatments for the target disease of interest. The test also analyzes how these infants react to the doctor’s common medication during childhood.

However, even if a mutation in the baby’s gene is detected, symptoms may take years. Some children may carry mutated genes throughout their lives without developing the disease in the future. This may be an important reason that similar DNA testing is not currently a regular item.



This poses a question for neonatal DNA testing. Is it really a good thing to do so many screening programs for such a package?

Laura Hoch, a geneticist at Sarah Lawrence College, said: “For many families, this is like opening a Pandora’s Box, which does not necessarily benefit parents and children.”

In some cases, the results of the test may lead to parents into anxiety and confusion, and to add unnecessary diagnostic procedures for the child, she said: “This test places parents in a panic because they do not know if Children are sick, whether to be the most rigorous treatment. “


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