Thursday, October 4, 2012

Infant DNA Testing for Rare Diseases

The NYTimes recently reported on a new method of analyzing the DNA of newborns that can zero in on mutations that cause disease in only a couple days instead of the typical couple weeks.

The test is a proof of concept and demonstrated in four infants that it is possible to scan a baby's DNA and pinpoint disease-causing mutations quickly. The main idea behind the testing is to take advantage of what is known about the symptoms to focus the search for genetic aberrations.  The researchers tested their methods by trying it with two babies whose disease was diagnosed only through an autopsy. Then they used the method on four babies who were having seizures and they found the mutated gene in three of the four.

This is a major step forward because instead of just searching the entire genome–specific suspected parts are targeted to expedite the process.

Moreover, this test avoids an ethical problem since it only focuses on the parts of the genes that cause disease in newborns. Unrelated genetic findings are such as Alzheimer's risk are unnecessary in these circumstances and would not be relevant. This is avoids a scene reminiscent of that from Gattaca (1997) where the baby is born and all of its potential genetic problems are listed.

About one in 20 babies in newborn intensive care units has genetic disease and many times it cannot be figured out. With this test, it will be much easier and much more efficient for diagnoses. Scientists identified faulty genes for about 3500 genetic diseases and about 500 have treatments.

One of the problems of this test is that many times there are not treatments for the diagnosis and that the test is helpful for the families to get closure. Only one of the six babies survived. Additionally, the cost of this test is currently $13,500 and is not covered by insurance but hopefully the price will decrease as the test becomes more mainstream.


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