Azenta, Inc. has launched a long-read Whole Genome Sequencing (WGS) test for clinical applications, becoming the first commercial provider with regulatory approval for such a test in the United States. This advancement promises to enhance the diagnosis and treatment of rare diseases by overcoming limitations of traditional sequencing methods.
Overcoming Limitations of Short-Read Sequencing
Traditional short-read sequencing often struggles with identifying genetic variants in repetitive regions of the genome, which are implicated in many rare diseases. Azenta's new test employs PacBio's Revio sequencer to generate long and highly accurate HiFi sequencing reads, enabling access to previously inaccessible regions. This comprehensive approach allows for the precise detection of complex genomic alterations that are characteristic of many rare diseases.
Clinical-Grade Sequencing for Enhanced Accuracy
The WGS test is performed within GENEWIZ, Azenta Life Sciences' CLIA-certified and CAP-accredited clinical genomics laboratory. This ensures adherence to the highest clinical standards, enhancing diagnostic accuracy and opening new avenues for targeted therapies and clinical trials.
"Clinical-grade long-read sequencing represents a monumental leap forward in the ability to decipher the genetic basis of rare diseases," said Dr. Ginger Zhou, Senior Vice President & General Manager – GENEWIZ Multiomics and Synthesis Solutions from Azenta Life Sciences. "By capturing long stretches of DNA in a single read, researchers can uncover subtle genetic nuances that were previously undetectable with conventional methods. This capability not only enhances diagnostic accuracy but also opens new avenues for developing targeted therapies and conducting more effective clinical trials."
PacBio's Role in Advancing Genomic Insights
Christian Henry, President and Chief Executive Officer of PacBio, highlighted the impact of their technology: "Azenta's test highlights the power of PacBio's technology in generating the most accurate and comprehensive genomic data available today. Revio's highly accurate HiFi reads are having an increasingly significant impact, allowing researchers to uncover the complex intricacies of rare diseases. We are proud to support their innovative work in expanding what's possible in clinical applications with these deeper, more precise views of the genome."
