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  • TECHNOLOGY FEATURE

Super-speedy sequencing puts genomic diagnosis in the fast lane

Streamlined workflows for DNA and RNA sequencing are helping clinicians to deliver prompt, targeted care to people in days — or even hours.
By
  1. Michael Eisenstein

    1. Michael Eisenstein is a freelance writer based in Philadelphia, Pennsylvania.

Technicians wearing lab coats and face masks using NovaSeq 6000 genome sequencing machines

Ultra-rapid sequencing of human genomes can identify rare diseases and speed up treatment. Credit: Jean-Philippe Ksiazek/AFP/Getty

Sometimes good news arrives too late. About a decade ago, clinical geneticist Zornitza Stark and her colleagues at the Murdoch Children’s Research Institute in Melbourne, Australia, set out to learn how genome sequencing might improve the care of young children with suspected hereditary disorders. The researchers sequenced the protein-coding regions in the genomes of 80 infants, looking for genetic changes to explain their conditions. For one nine-month-old boy with severe neurological symptoms, Stark’s team homed in on a mutation that resulted in a crucial vitamin B1 deficiency, which could be readily treated with supplements for just under Aus$150 per year (US$136 at the time).

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Nature 626, 915-917 (2024)

doi: https://doi.org/10.1038/d41586-024-00483-0

References

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