Horizon Discovery Group plc (LSE: HZD) ("Horizon"), the world leader in the application of gene editing technologies including molecular reference standards, today announces the launch of its first HDx™ cfDNA (cell-free DNA) Reference Standard in Synthetic Plasma. 

Since being pioneered by Horizon co-founder Professor Alberto Bardelli for the detection of KRAS mutations in serum to identify resistant populations to EGFR targeted therapy, liquid biopsy testing has emerged as one of the fastest growing areas in diagnostics, with cfDNA testing set to reach $9.0 billion by 20221. Non-invasive testing offers the possibility of earlier disease detection and more effective treatment, even more so for conditions such as lung cancer which are difficult to biopsy.

cfDNA based diagnostics are at a particularly high risk of error however, as these tests involve extracting a small amount of DNA from a large volume of plasma, and an assay may be required to...

It is essential therefore that clinical laboratories extract, and reliably quantify, as much cfDNA as possible. Horizon’s new Multiplex I cfDNA Reference Standard Set in Synthetic Plasma directly addresses this problem by allowing users to control for the entirety of their workflows, from sample extraction through to result reporting, interrogating the sources of variability at each step so they can address them.

Developed using clinically-relevant mutations, the Multiplex I cfDNA Reference Standard Set in Synthetic Plasma contains eight cancer-relevant mutations including BRAF, EGFR, KRAS, NRAS, and PIK3CA at 5%, 1%, and 0.1% allelic frequencies2. These mutations are associated with multiple forms of cancer including breast, colorectal, pancreatic and particularly lung, where one specific mutation covered in the panel, EGFR T790M, is associated with Iressa® (Gefitinib) resistance. This is an essential tool for scientists seeking to understand and control variation in molecular testing. By engineering the reference standard in plasma, full understanding of assay performance from extraction and quantification through to analysis and informatics is possible, mimicking the challenges of dealing with human material.

Dr. Darrin Disley, CEO, Horizon Discovery Group, commented: “Horizon is committed to helping ensure that molecular diagnostic testing is as accurate as possible, so that laboratories can be confident when providing assay results to clinicians. The launch of our Multiplex I cfDNA Reference Standard Set in Synthetic Plasma further demonstrates Horizon’s position as a leader in the liquid biopsy space and as a trusted provider of molecular reference standards to a rapidly expanding list of clinical laboratories, proficiency schemes and manufacturers.”

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