In the Neonatal Intensive Care Unit, more than half of the newborns there are born prematurely. The remaining portion of the infants have problems that doctors have not diagnosed yet. Scientists at
Children's Mercy Hospital in Kansas City have had a breakthrough in genetic screening technology that can screen a newborn's DNA in about 26 hours. The scientists have stated that the new screening process resulted from advancements in sequencing technology and technique to understand the function of the genes. Screening starts with the doctor logging into a database (Phenomizer) which contains over 6,000 genetic variants for different problems in the babies. The
Phenomizer connects symptoms to genetic variants in the system. So, a doctor can type in the symptoms the newborn is having, and the Phenomizer will give back a number of genes that may be causing the issue. These genes are sequenced and tested from the newborn to see if there is a mutation within the gene that matched up for those specific symptoms.
Normally the sequencing process takes about 50-60 hours, but with this more rapid technology, this is cut down into less than half. The 26 hour process was tested on infants who already went through the longer 50-hour sequencing process and were diagnosed. The 26-hour process resulted in 99% accuracy linking to the same mutations as the 50-60 hour process. The cost of this test is $20,000.
I think that when it comes to determining the diagnosis of a newborn, time is critical to the newborns health. Diagnosis is needed in a timely fashion in order to prevent the problem from progressing and causing further health problems. By cutting the time of sequencing in half, genetic specialists can tie mutations to diagnoses more aggressively. This new way of sequencing genes and finding possible mutations is so new and there are so few forms of sequencing and analyzing genes, that the cost of this testing is extremely high. Once further testing is done within the program and more ways of sequencing genes are discovered, the cost should decrease.
This article is awesome! I am so happy to hear that they have found a faster, more efficient way to detect diseases in newborns. A minute or two minutes could be the difference on whether or not a life lives or dies and with the new technology detecting what gene is mutated in almost half the time is remarkable. I am sure parents are so grateful to have this new test at their finger tips to give their baby a better chance at life. Although I do hope that the price goes down so it can be more accessible! This is a very interesting article!
ReplyDeleteThis is a very interesting article! By being able to sequence the babies' genes faster, diseases can be detected before harm is made to them. This is definitely something that can put parents at ease when it comes to help with their newborns. I do hope that prices go down, but this is definitely a step in a positive direction.
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