A record breaking technique
A team from the Stanford School of Medicine has created a new method of mega-sequencing. Using this, individuals can have their three billion plus nucleotides read in just over five hours, a record breaking time!
“A few weeks is what most clinicians call ‘rapid’ when it comes to sequencing a patient’s genome and returning results,” said Euan Ashley, a professor who worked on the project.
In widely used techniques, the person’s DNA getting tested is fragmented up into smaller easy to read chunks. Although, much of the sequence is lost using this technique, previous technology was more suited to this method. The new paper, published in The New England Journal of Medicine, uses long-read sequencing instead. Here, long stretches of DNA at a time are read to produce a section of the patient’s genome. In combination with this method, the team engineered a powerful genetic code reader that can pump out results faster than ever before.
Even though this technique is a lot faster, the accuracy is actually higher than its slower counterpart. Using this method, the team managed to diagnose individuals with ‘mystery’ diseases with a 12 percent higher success rate, compared to traditional sequencing methods.
“It was just one of those amazing moments where the right people suddenly came together to achieve something amazing,” Ashley said. “It really felt like we were approaching a new frontier.”
Why is this innovation so important?
Our DNA holds the secrets to unlocking a whole lot of information about ourselves, spanning from disease to eye color. Currently, scientists only understand the job of around three percent of the genome. This is why genome sequencing is so important, it allows us to get one step closer to revealing the mysteries of our own DNA. The more people’s DNA we sequence, the closer we can get to understanding what causes disease and how we can go about treating them.
The implications of this technology are enormous. Fast diagnoses allow for faster turnover of patients in critical care units as diagnosed faster, fewer tests needing to be carried out, cheaper treatment, more accurate diagnosis, plus quicker recovery times.
Source study: The New England Journal of Medicine – Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting