Oxford Nanopore Technologies collaborates with Twist Bioscience to launch Pharmacogenomics Beta Programme and advance personalised medicine

New workflow to provide unambiguous genetic results in a single assay, alleviating the need for time-consuming and costly follow-up tests

Oxford Nanopore Technologies (Oxford Nanopore) today announced the launch of a new Pharmacogenomics (PGx) Beta Programme to advance personalised medicine, combining Twist Bioscience’s next generation sequencing (NGS) target enrichment technology with Oxford Nanopore’s sequencing platform.

The newly unveiled Twist-Oxford Nanopore long-read PGx solution, which is now available for research use, is designed to provide unambiguous genetic results in a single end-to-end workflow from sample to PGx star allele call, alleviating the need for time-consuming and costly follow-up tests in contrast to conventional methods. The beta programme aims to increase the diversity of genetic variants evaluated by Oxford Nanopore’s platform.

“Our collaboration with Twist Bioscience underscores our commitment to advancing the possibility of personalised medicine through PGx by providing unambiguous genetic results in a single assay,” said Gordon Sanghera, CEO of Oxford Nanopore. “Combined with Twist’s technology, Oxford Nanopore’s value proposition for PGx lies in the ability to deliver richer data through long reads, ultra-fast sequencing speed, accessible form factor and flexibility in terms of throughput, making it an ideal choice for comprehensive and efficient genetic analysis in clinical settings."

The PGx beta programme has successfully achieved full resolution of the CYP2D6 gene in a single assay. CYP2D6 is responsible for metabolizing 20% of drugs on the market and is one of the most challenging genes to sequence due to its complex structure. The Twist Alliance Long-Read PGx Panel coupled with Chinook, Oxford Nanopore’s CYP2D6 *-*specific allele caller, demonstrated 100% CYP2D6 reference concordance, overcoming the limitations of conventional sequencing technologies.

Key features of the PGx Beta Programme include:

• Comprehensive CYP2D6 assay: Achieving full gene resolution in a single test.

• Integration with Oxford Nanopore devices: Twist’s Library Preparation Reagents and Target Enrichment Panels will be integrated with Oxford Nanopores’ MinION and PromethION Flow Cells, enabling flexibility in throughput and offering customers a seamless and powerful toolset for Oxford Nanopore sequencing.

• Continuous innovation and compatibility testing: Ongoing evaluations to ensure combability with Twist’s hybrid capture panels, including exploration of the Twist Alliance Dark Genes Panel and the Twist Exome 2.0, potentially broadening the scope of genetic research and clinical applications.

“Oxford Nanopore’s technology provides genetic analysis and through our collaboration and the Pharmacogenomics Beta Programme, we’re able to expand the reach of our NGS products and provide researchers with a tool to develop personalised therapies. We’re looking forward to progressing through the Beta Programme and exploring additions to our collaboration,” said Emily M. Leproust, Ph.D., CEO and co-founder of Twist Bioscience. “The exceptional uniformity of our sequencer agnostic workflows enables researchers around the world to advance scientific breakthroughs.”

For more information about the PGx Beta Programme and other innovations from Oxford Nanopore Technologies, visit https://nanoporetech.com.