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GenomeWeb: Nanopore Sequencing Rapidly Advances, Enabling Genetic Assessment of Newborn in Three Hours

By Huanjia Zhang

After striking a record speed earlier this year, nanopore sequencing continues to make headway in the realm of rapid genetic testing, with a new preprint study led by University of Washington researchers demonstrating that the technology can help elucidate a newborn's genetic risk for a specific disorder in as little as three hours after birth.

The study's ultra-rapid turnaround time, which is the fruition of optimized sequencing workflow and targeted data analysis, marks somewhat of a new advancement for nanopore sequencing in terms of speed. However, researchers still face a journey to harness the case-specific breakthrough into broader clinical applications and routine genetic disease diagnostics.

"The initiative of the study is basically [to explore] can we use sequencing to help us with clinical decision-making more rapidly?" said Danny Miller, a pediatrics geneticist at the University of Washington and the lead investigator of the preprint paper, which is currently available on MedRxiv.

This study "demonstrates the power of the nanopore technology and its capability of producing data fast and allowing the scientific team to monitor the production in real-time, which sets the nanopore technology apart from some of its competitions," said Tomi Pastinen, director of the Genomic Medicine Center at Children's Mercy Kansas City. "To my knowledge, [nanopore sequencing] is the only genome-wide technology that could be applied so rapidly to achieve that kind of high-confidence genotyping."

While Pastinen's group has not yet moved into the newborn sequencing space, his team is known for conducting long-read sequencing on the Pacific Biosciences platform to help solve rare disease cases through the Genomic Answers for Kids (GA4K) project.

Based on the results presented in the paper, Pastinen said it was clear that the early sequencing data would not have allowed researchers to carry out genome-wide interpretation. However, he said for the specific application scenario described in the study, which is effectively confirmatory sequencing for two genetic variants, nanopore sequencing, with its advantage of moving fast, is "completely appropriate."


Read the full article via Medscape

Genomic Medicine Center at Children's Mercy

Children's Mercy Research Institute