What are cfDNA Reference Standards?

A major clinical goal, especially for oncology, is to achieve non-invasive disease assessment and progression monitoring. The analysis of cell free DNA (cfDNA), also known as circulating tumor DNA (ctDNA) is currently the most promising technical advances to provide an alternative to tumor biopsy. Translating the application of cfDNA detection into the clinic requires stringent procedures to enable both accurate and precise measurements. Meanwhile cfDNA detection methodologies face new challenges due to the low quantity of highly-fragmented material available from biofluids. Analysis of cfDNA is often intended to identify very low allele frequency mutations, including 0.1% and lower, that push the detection limits of current technologies.

Until now, the availability of reference standards or a universal control to assess cfDNA/ctDNA analytical workflows has broadly been limited to variable clinical specimens. In response to this need, Horizon has developed the cfDNA and ctDNA Reference Standard range to support the innovation and standardization of this valuable technology. Derived from engineered human cell lines, the reference standards are provided as fragmented human genomic DNA (average size 160 bp) resembling cell tumor DNA derived from human plasma. The reference standards are provided at allelic frequencies down to 0.1% across a range of variants with a matched wild type. Expected allelic frequencies of each product are provided, ideal to support the breath and quality of data you need for validation. These reference standards will help to drive forward the development, validation and demonstration of the performance of cfDNA assays and platforms on a routine basis.