Wednesday, October 10, 2012

Infant DNA Testing

A recent article in The New York Times outlines a new method by which an infant's DNA can be quickly and accurately scanned for possible genetic diseases.  This new method was published just last week in the Science Translational Medicine Magazine.  It combines the use of Whole Genome Sequencing (using the Illumina sequencer) with Symptom and Sign-Assisted Genome Analysis.  This method utilizes an infant's symptoms to focus on specific parts of the genome that may carry a mutation that causes a genetic disease.  The entire process can be completed in approximately 50 hours, which makes it a very useful test for quickly determining if an infant has a genetic disease.

Such testing can be extremely helpful in identifying the proper treatment path to take.  For example, in some cases, the genetic information may indicate that the disease is fatal, and thus treatment can be terminated before it becomes unduly costly, but in other cases, the knowledge about a genetic disease may lead doctors to a different type of treatment.  Identification of such diseases can be very economically viable because it can help limit the amount of time an infant stays in the NICU, which is extremely costly.

Despite its obvious benefits, this testing is still very new, and it does have some limitations.  For example, the system is unable to identify dominant genetic diseases, and it also struggles to identify certain types of mutations, such as large deletions.

1 comment:

  1. As day by day people are more aware about DNA,as for its demand has been also more and more.Now a days DNA testing and Forensic Science are in great demand as the are one of the best way of finding out truth and hidden things.
    DNA Testing