One of the biggest challenges facing the molecular pathology community is how to ensure reproducible and accurate diagnostic test results amidst a rapid increase in the volume of clinical samples passing through labs each year. CLIA labs that three years ago used to test only a few hundred samples per year are now seeing a throughput numbering in the thousands, and are struggling to keep pace while meeting an accuracy expectation of close to 100%.

The results from blinded quality assessment rounds suggest many labs fail at calling the correct mutation status of a known sample (from 5-25% of genomic tests are called incorrectly [EMQN 2010 Summary Report]). These proficiency schemes typically rely on distributing patient samples harvested from a tumor known to contain a particular biomarker. Unfortunately, patient samples are in short supply, often contain high variations in gene copy number, and are heterogeneous in their allelic ratios, making them less than ideal.

As a result, there is a large and growing need for a renewable source of cells containing defined mutations and allelic ratios to serve as reference standards.

Horizon's products include both formalin-fixed paraffin embedded (FFPE) cell line blocks and purified genomic DNA (gDNA) extracts. These standards offer a sustainable source of reference material to molecular diagnostic laboratories, proficiency schemes, and manufacturers providing an unprecedented level of control versus currently available solutions (e.g. primary tissues, synthetic oligonucleotides, non-isogenic cell lines or plasmids).

Horizon has developed a suite of over 100 products that are currently being marketed as reference standards for the increasing number of rare mutations that define responsive patient populations for targeted cancer therapeutics, which by definition are hard to find in clinical samples and certainly not easily renewable.

A further 50 products are in development to serve this market in addition to an emerging market opportunity to provide controls for immunohistochemistry (IHC) assays, fluorescent in-situ hybridization (FISH) assays and NextGen sequencing.

Please visit our dedicated site for Quantitative Molecular Reference Standards to gain detailed technical information, product specification and application notes.