Technology helps diagnose genetic diseases in hours

The new ultra-fast technique set a Guinness World Record for sequencing the genome and diagnosing genetic diseases in just a few hours.

The new technique greatly shortens the time for sequencing the genome.

Researchers from Stanford University and the University of California, Santa Cruz tested a new technique on 12 patients with a variety of symptoms who could not identify a specific cause, suspected to be a rare genetic disease. All 12 patients had their genes sequenced, 5 of which were diagnosed with a genetic disease with an average time of 8 hours.

All the information that makes up an organism resides in the genome, including traits like eye color and genetic disease. By comparing a patient's genome with a list of DNA mutations associated with inherited diseases, doctors can figure out the type of disease. Currently, this process usually takes several weeks.

With the new technique, the fastest case took only 5 hours and 2 minutes to sequence the patient's genome, setting a Guinness record for the fastest DNA sequencing technique. Next, the research team diagnosed the genetic disease for this case. The sequencing and diagnostic process took a total of 7 hours and 18 minutes, almost half the time of the previous record.

New technology for super-fast speeds thanks to some important improvements. First, the technique uses long-read sequencing, which scans DNA sequences up to tens of thousands of base pairs long, allowing for more accurate readings.

Mutations occurring in large chunks of the genome are easier to detect by long sequencing, said study co-author Professor Euan Ashley. Some variations are almost impossible to detect without this approach. Another breakthrough is a new device made up of 48 sequence units, called flow cells. The sequencing process can be greatly accelerated by using all 48 flow cells at once to scan the patient's genome.

However, the new technique also comes with the problem of generating huge amounts of data. The team developed a method to transfer data to a cloud storage system and use an algorithm to scan DNA sequences for mutations. They then compared these mutations with the disease-causing mutation. The study results were published in the New England Journal of Medicine on January 12.