Pediatricians now have the ability to scan the entire genome of a newborn infant and make a diagnosis of an illness in a time period of just 26 hours.
Doctors are able to study the genome of infants so quickly thanks to new software technology. They believe that this technology will save the lives of infants who often need a quick diagnosis in the very early stages of their lives.
The technology consists of a processor from Edico Genome. The processor was created to quickly handle large genetic data. It was developed by genome expert Stephen Kingsmore.
Doctors typically use targeted genetic tests for specific diseases when they have a good idea about what disease the infant might be suffering from. These tests only focus on specific portions of the genome.
However, this isn’t very helpful in instances where doctors don’t know where to start. Often, it’s very hard for pediatricians to make an educated guess as to what genetic disorder a newborn might be suffering from.
Unfortunately, with 3.2 billion potential mutation locations in the human genome, the process of locating an error is tremendously challenging.
The good news is that the price of sequencing an entire genome is becoming much more affordable. The first genome sequencing cost $3 billion. Now, scientists can sequence an entire genome for just $1,000.
By being able to sequence the genome and make a diagnosis in just 26 hours, scientists have already been able to save the lives of infants. The process has been used on 35 sick babies so far. The process was able to diagnose a disease in 20 of the babies. In 13 of these cases, doctors changed their plans for treatment based on their findings.
Genetic disorders are the leading cause of death for newborn babies, but they may be more treatable now thanks to new technology.