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Assays, Product, Genetic & Rare Diseases, Complex Disease Genomics

Minutes Matter. New PCR-Free Prep Expedites Whole-Genome Sequencing

New library prep kits enhance research in rare genetic diseases

Minutes Matter. New PCR-Free Prep Expedites Whole-Genome Sequencing
July 27, 2020

When diagnosing children with a rare genetic disease, speed is essential. Shaving a few hours off the diagnostic testing process means parents get answers and children may be treated faster. That’s why the new Illumina DNA PCR-Free Prep kit is such an important milestone for rare disease research.

In concert with our recently launched TruSight Software Suite, DNA PCR-Free Prep kit is available for NovaSeq 6000, NextSeq 550, MiSeq and MiniSeq. Today, DNA PCR-Free Prep is an integral part of whole-genome sequencing for not only rare disease research, but additional applications as well. Together with the TruSight Software Suite, these tools enable the highest quality, at the fastest speed, in an integrated platform that delivers interpreted variants across the entire genome.

We believe this improved workflow will make an impactful difference in the lives of children and their families.

This newest entrant has been long-awaited by Rady Children’s Institute for Genomic Medicine in San Diego, CA, and other high-intensity sequencing accounts. Two years ago, using NovaSeq 6000 instruments and other Illumina technologies, Rady set the current Guinness World Record for a genomic diagnosis – 19.5 hours from sample collection to diagnosis. This new PCR-free prep kit, and other recent refinements, could potentially help the institute break its record, providing timely diagnostic information to guide care.

“Infants who suffer from rare genetic disorders are some of the most vulnerable patients we treat,” said Dr. Stephen Kingsmore, President and CEO of Rady Children’s Institute for Genomic Medicine. “Any technology that can reduce the time it takes to diagnose them is most welcome. We believe this improved workflow will make an impactful difference in the lives of children and their families.”

The new DNA PCR-Free Prep kit supports a wide range of DNA inputs and sample types, such as saliva, blood and dried blood spots. It reduces prep time, is easy to use and provides highly-accurate data quality. Combining on-bead tagmentation with PCR-free technology simplifies the whole-genome sequencing workflow. It delivers sequencing-ready libraries in a mere 90 minutes – three to four times faster than alternative solutions – minimizing hands-on time and enabling compatibility with low-input DNA workflows.

“These advanced new kits will have a tremendous impact on the marketplace, because for families with children facing rare genetic diseases, every minute matters,” said Jim Godsey, Vice President of Assay Development at Illumina. “By simplifying and accelerating next generation sequencing workflows with innovative products, we move closer to fulfilling the promise of precision medicine.”

As next generation sequencing has evolved, the technology surrounding it has become faster, easier to use and more accurate. The new prep kit improves turnaround times to as low as 90 minutes. In addition, it reduces the sample input requirement to get high quality data from as low as 25 nanograms, requires only two touch points with automation and reduces the time it takes to process a genome down to 32 hours.

This new addition will be embedded in a comprehensive workflow that includes library prep, sequencing on NovaSeq 6000, or other instruments, and analysis through the DRAGEN sequence Hub platform that make up the TruSight Software Suite. This combination of products aims to set the standard for scalable and swift interpretation of genomic information, enabling whole-genome sequencing to become the standard of care in rare genetic diseases.

To learn more, click here.

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