Rapid Diagnosis Of Rare Diseases In Infants Through DNA Sequencing

Infant DNA sequencing

Whole genome sequencing speed up rare disease diagnosis in infants.

Letting go of your precious baby without knowing what ails him/her is among the most painful of all situations that parents may have to deal with. There are so many genetic causes that medical science has yet to discover and as stated in the New York Times, ‘about one in 20 babies in newborn intensive care units has a genetic disease.’

Well, with the newly discovered method, at least we are on the right path to identify genetic mutations in newborns within a matter of few days as compared to the few months that were required previously. The method has been published in the journal Science Translational Medicine and details how it is possible to rapidly scan a baby’s entire DNA and zero in on the disease-causing mutation. And all this, in a matter of few days.

Though, the DNA sequencing could not save the girl child with seizures mentioned in the NYT article, as Dr. Joshua E. Pertikin mentions, at least the parents could have been counseled to accept what lay ahead of them and thereby reduce suffering.

Now, sequencing entire DNA of a human being is far from easy and there is always the difficulty of identifying, where to look.

The DNA of a person is huge. How does the method surpass the errors or identify mutations that may actually provide information about the problem at hand and not deviate to inform us about adult diseases. So, how does the method work?

The new method involves a computer program which searches for genes on the basis of symptoms observed in the baby. The program is specific for infant diseases and hence avoids coming up with causes that are unrelated or points towards aberrations that do not concern babies. So, once the baby’s symptoms are loaded onto the program, it searches the baby’s DNA sequence for gene mutations which could be responsible.

Is the new method affordable?

This is the catch. The new method costs about $13,500 and is not yet covered by insurance. However, all is not bleak since, as Dr. Stephen F. Kingsmore, director of Children’s Mercy’s center for pediatric genomic medicine, explains in the Times, when a baby is in the intensive care, each day can cost over $8,000, so it follows that insurance companies would definitely prefer to pay for anything that can reduce time in the intensive care unit.

We have to remember though that identifying the genetic mutation making the baby sick is no guarantee for baby being treated and saved. However, the doctors and parents would know what to expect and decide on course of treatment accordingly.

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