Faster Whole-Genome Sequencing May Lead to Routine Use in Neonatal Intensive Care


A team of researchers has introduced a rapid and user-friendly whole-genome sequencing system to identify significant mutations in genetic sequences, tailored for physicians lacking specialized genetic expertise.

A new, faster DNA-sequencing machine, as well as streamlined analysis of its results, will allow physicians to diagnose genetic disorders in days rather than weeks. Up to a third of babies admitted to neonatal intensive care have a genetic disease, this may help pin down the genetic causes.

The researchers published their findings in the journal Science Translational Medicine. There are thousands of genetic diseases, but there are relatively few tests that detect them and those may only detect the most common mutations. Whole-genome sequencing could test for many diseases at once.


In the past, the cost, the complexity involved, and the turnaround time needed limited the use of whole-genome sequencing. A research team led by Stephen Kingsmore at Children’s Mercy Hospital in Kansas City, Missouri, has implemented a much faster, simpler system in order to find relevant mutations in whole-genome sequences, which is designed for physicians without specialized genetic training.

This could help hospitals bring sequencing into clinical care. Previously, it required several weeks and teams of experts to interpret the results. The new routine sequencing will be offered by the end of the year and will allow physicians to get results in two days.

To order a test, physicians will describe the infant’s symptoms from pull-down boxes and then the software compiles a list of potential suspect genes. Once the genome is sequenced, the software hunts for and analyzes mutations only in those genes, which allows it to compile list of possible causative mutations quickly. The team has been using a new DNA sequencing machine from Illumina, based in San Diego, which can sequence genomes within 25 hours. The entire test took 50 hours and cost $13,500 per child.

This device will help limit, or even stop, costly and invasive tests used by physicians to hunt down a diagnosis.

Reference: “Rapid Whole-Genome Sequencing for Genetic Disease Diagnosis in Neonatal Intensive Care Units” by Carol Jean Saunders, Neil Andrew Miller, Sarah Elizabeth Soden, Darrell Lee Dinwiddie, Aaron Noll, Noor Abu Alnadi, Nevene Andraws, Melanie LeAnn Patterson, Lisa Ann Krivohlavek, Joel Fellis, Sean Humphray, Peter Saffrey, Zoya Kingsbury, Jacqueline Claire Weir, Jason Betley, Russell James Grocock, Elliott Harrison Margulies, Emily Gwendolyn Farrow, Michael Artman, Nicole Pauline Safina, Joshua Erin Petrikin, Kevin Peter Hall and Stephen Francis Kingsmore, 3 October 2012, Science Translational Medicine.
DOI: 10.1126/scitranslmed.3004041

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