It usually takes weeks to get the results of genetic testing, but a super-fast method has recently been developed that can detect the human genome sequence and diagnose genetic diseases within a few hours. This method has broken the Guinness World Record with its high speed.
Researchers at Stafford University tested their new technique on 12 patients. These patients had a variety of symptoms whose origin was unknown, but were thought to be related to genetic problems. The researchers obtained the genetic sequence of all of them with an average time of 8 hours, and it was finally determined that 5 people had a genetic disease.
The shortest time for a sample was 5 hours and 2 minutes, setting a Guinness World Record for the fastest DNA sequencing technique. In the same sample, the genetic diagnosis process was performed and finally a time of 7 hours and 18 minutes was recorded. Researchers claim that this is half the time of the previous record. This new technique owes its high speed to several significant improvements. For example, this technique uses a long sequence method in which sequences are scanned for thousands of base pairs. As a result, more accurate readings are obtained.
“Mutations that occur in large chunks of the genome are easier to identify using the long sequence method,” says lead author Professor Yuan Ashley. “It is almost impossible to identify some of these samples without using some kind of reading aloud.”
The next breakthrough came in the form of a device consisting of a maximum of 48 sequence units. Discovery of the patient’s genome is accomplished at a much higher rate by the simultaneous use of these 48 units. However, the use of these new techniques produces large amounts of information that are difficult to manage. To solve this problem, researchers send data to the cloud storage space and use computer algorithms to look for mutations in the sequences.
These mutations are then compared to known diseases. Scientists believe that this process still needs improvement and can be halved.