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Two companies with complementary technologies are collaborating to bring new reproductive health and carrier screening assays to market. The collaboration will combine Asuragen’s PCR expertise with Oxford Nanopore’s any-read-length DNA sequencing technology to develop a system that will identify the most challenging yet high prevalence carrier genes in a single, unified workstream.

Carrier screening identifies at-risk couples (ARCs) whose combined genetic makeups may have pathogenic variants that are associated with severe genetic diseases. Screening tests can assess the risk of the parents passing along these diseases to help guide family planning decisions. While many tests can assess a broad range of these risk variants, traditional sequencing methods are not able to uncover other variants of interest listed in clinical guidelines such as tandem repeats, copy number variation, pseudogenes, and structural variation.

According to a joint press release from both companies, six of the 10 most common pathogenic variants present challenges to current genotyping methods and often require a complex combination of tests to discover. Further, the American College of Medical Genetics and Genomics (ACMG) recommends parents screen for more 100 genes that may have pathogenic variants for all prospective parents, regardless of ancestry or ethic origin. Of these, more than a dozen are known to be challenging to identify.

To help overcome this, Asuragen and Oxford Nanopore are seeking to combine their respective technologies to integrate them into a single workflow to be able to identify both these challenging genes, as well as the easier to genotype genes using a single sequencing system.

“Oxford Nanopore’s ability to sequence any-length of DNA fragment will help to overcome the technical barriers with the current standard screening,” said Gordon Sanghera, CEO of Oxford Nanopore Technologies. “This is especially important as we know that a significant fraction of all disease-causing variation is made up of variants that are larger than a single base-pair substitution, meaning that nanopore-based sequencing can quickly and accurately characterize variants of interest throughout the genome.”

For this collaboration, the two companies will develop an integrated wet- and dry-bench kit for genotyping 11 genes that are critical for carrier screening, including eight that are known to be hard to analyze. The kit will feature a modular design to accommodate multiple use cases for carrier screening. The companies note that the 11 targeted genes represent conditions covering  roughly 70% of all pathogenic variants associated with a severe genetic disorder for ARCs. Current custom assays typically require more than 15 times the number of genes along with multiple technologies to resolve them.

To accomplish this, Asuragen will develop a kit that includes reagents and tools for target enrichment, analysis software, using a workflow that integrates Oxford Nanopore’s library preparation reagents and sequencing instruments. The intent is to allow both high-volume labs and smaller specialty labs alike to offer services that can provide answers for the more challenging genes. The goal is to provide an affordable solution that will enable decentralization of carrier screening services to foster in-house analysis.

“Asuragen has a long history of delivering accurate, dependable and easy-to-run kitted assays that resolve complex structural variants, such as repeat expansions and copy number changes,” added Kim Kelderman, president of Bio-Techne’s Genomics and Diagnostics segment, the parent company of Asuragen. “Our work with Oxford Nanopore’s technology and team has demonstrated tremendous promise for how innovations from both companies can be combined to create a complete solution for conventional and challenging genes alike.”

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