Researchers at a hospital in Kansas have been using this machine to crank out entire genome sequences of just-born babies in two days — which could be fast enough to change treatment regimes and save their wonderful little lives.
Usually, gene testing in neonatal intensive care units takes over a month, which means babies expect aggressive or guessed-at treatment at best. Thanks to this piece of kit, the Illumina's HiSeq 2500, doctors are now able to do it in 50 hours, Technology Review reports. It might cost $US13,500 a pop, but when you're dealing with a baby's life, that's worth it. Stephen Kingsmore, one of the researchers from Children's Mercy Hospitals and Clinics in Kansas City, explains:
"For those of us who have been decoding genomes, it's been phenomenally frustrating that, up until now, practical medicine has not benefited from whole-genome sequencing... We can now consider whole-genome sequencing to be relevant for hospital medicine."
What's desperately sad is that, so far, all the babies who have had their genomes sequenced at these high speeds — six in total — have been so ill they've all died. But there's hope that in the future, the fast turnaround time will allow doctors to perform life-saving treatments.
It's not all bad news: one family has learned of their underlying epilepsy thanks to the tests, another has worked out why they've been struggling to have children in the past. Of course, looking to the future, the technology's strengths could change the way children — and adults — are treated. For once, speed certainly does not kill. [Technology Review via Geekosystem]