World record genome sequencing good news for sick children


Medical diagnosis isn’t usually the stuff of Guinness certificates, but this one is different.


There's a world speed record for whole genome sequencing, it turns out.
There's a world speed record for whole genome sequencing, it turns out.
Maja Hitij/Getty Images

Guinness World Records are usually associated with something gloriously pointless, such as the greatest number of somersaults achieved in a single hour, or the tallest hibiscus plant grown inside a fish tank, but one just awarded is anything but frivolous.

A team of researchers at the Rady Children’s Institute for Genomic Medicine (RCIGM) in San Diego, US, has just been officially recognised by the Guinness folk for setting a new benchmark in identifying a life-threatening condition by high speed whole genome sequencing.

Using an Illumina DNA sequencing machine along with other specialist equipment for aligning genetic data and identifying variants, decision-making software and assisted by experts in rare diseases, the Rady team managed to sequence a child’s genome and identify the harmful genetic variants in just 19.5 hours.

The team was led by Rady CEO Stephen Kingsmore – who is also the previous world record holder for the process, achieving a speed of 26 hours in 2015.

“Our evolving ability to find the answers to medical mysteries through rapid whole genome sequencing is providing hope for babies and children with rare, genetic diseases,” he says.

“By speeding delivery of genomic insights, we are equipping physicians with the information they need to provide precision care for the youngest and most fragile patients.”

The Rady approach uses a single blood sample to sequence the entire genome, which can then be quickly screened for markers of thousands of diseases.

At present, whole genome sequencing is not a commonly used hospital diagnostic tool. It is available in the US only to children attending a handful of hospitals taking part in the institute’s clinical trials.

Kingsmore hopes that the situation will soon change.

“Our hope is that paediatric genomic medicine will one day become routine so that ultimately all children who need it can have access to this life-saving technology,” he says.

  1. https://www.rchsd.org
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