World's fastest genome sequencer diagnoses genetic disease in hours

Genome sequencing can be used to determine whether a patient’s illness is genetic, but it usually takes weeks to get results. A new ultra-rapid technique can sequence a person’s genome and diagnose genetic diseases in just a few hours, earning it a Guinness World Record.

All the information that makes up an organism is contained in its genome, including traits like eye color, as well as genetic diseases. By comparing a patient’s genome with a checklist of DNA mutations associated with certain inherited diseases, doctors can diagnose otherwise mysterious illnesses. Currently, this process usually takes a few weeks.

But in a new breakthrough, a team of scientists has shortened that window to just hours. The researchers tested the new technique on 12 patients with various symptoms that couldn’t be pinpointed to specific causes, for which rare genetic diseases were suspected. All 12 had their genomes sequenced, and five of them ended up being diagnosed with genetic diseases, with an average turnaround of eight hours.

The fastest case took just five hours and two minutes to sequence the patient’s genome, which was recognized by Guinness World Records for the title of fastest DNA sequencing technique. A genetic disease diagnosis followed in this case, with the sequencing and diagnosis taking a total of just seven hours and 18 minutes, which the team says is almost half the time taken by the previous record holder.

The technique gets its speed from several important advances. For one, it uses long-read sequencing, which scans DNA sequences that stretch as long as tens of thousands of base pairs, allowing for more accurate reads.

Bio of the doctor that did this - quite impressive.

“Born in Scotland, Dr. Ashley graduated with 1st class Honors in Physiology and Medicine from the University of Glasgow. He completed medical residency and a PhD at the University of Oxford before moving to Stanford University where he trained in cardiology and advanced heart failure, joining the faculty in 2006. His group is focused on the science of precision medicine. In 2010, he led the team that carried out the first clinical interpretation of a human genome. The article became one of the most cited in clinical medicine that year and was later featured in the Genome Exhibition at the Smithsonian in DC. Over the following 3 years, the team extended the approach to the first whole genome molecular autopsy, to a family of four, and to a case series of patients in primary care. They now routinely apply genome sequencing to the diagnosis of patients at Stanford hospital where Dr Ashley directs the Clinical Genome Program and the Center for Inherited Cardiovascular Disease. Dr Ashley has a passion for rare genetic disease and was the first co-chair of the steering committee of the Undiagnosed Diseases Network. He was a recipient of the National Innovation Award from the American Heart Association and the NIH Director’s New Innovator Award. He is part of the winning team of the $75m One Brave Idea competition and co-founder of three companies: Personalis Inc ($PSNL), Deepcell Inc, and SVExa Inc. He was recognized by the Obama White House for his contributions to Personalized Medicine and in 2018 was awarded the American Heart Association Medal of Honor for Genomic and Precision Medicine. He was appointed Stanford Associate Dean in 2019. In 2021, his first book The Genome Odyssey - Medical Mysteries and the Incredible Quest to Solve Them was released. Father to three young Americans, in his ‘spare’ time, he tries to understand American football, plays jazz saxophone, and conducts research on the health benefits of single malt Scotch whisky.”

“Who thinks genome (re)sequencing will only be used for good/ethical purposes?”

In my case, I’m one of them who was given extra years to live because of genomic sequencing and the good and ethical use of it. I think it’ll go a long way to helping reduce human suffering.

But on the flip side, there is unfortunately always a chance that it could be abused by some.

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