Thermo Fisher Scientific Announces Next-Generation Sequencing Assay for Liquid Biopsy Research

Clinical oncology researchers who need to draw more meaningful genetic data, now have access to the new Oncomine Lung Cell-Free DNA (cfDNA) Assay designed to target mutations in non-small cell lung cancer (NSCLC) samples derived from circulating cfDNA in blood.

When combined with Thermo Fisher Scientific’s Ion S5 System, the research assay meets a critical need for a multi-targeted, next-generation sequencing (NGS)-based solution that enables highly sensitive detection across a broad set of gene variants.

Research using liquid biopsy samples, is quickly becoming a strong complementary candidate to drive the future of precision medicine in oncology. By sequencing genetic material taken from standard blood samples, clinical researchers are able to improve their understanding of the tumor

composition and changing tumor heterogeneity. In particular, the approach is gaining interest because it is minimally invasive less expensive, and easily repeatable when compared to a typical tissue biopsy.

“When biopsies are not possible due to a tumor’s location, which is often the case with lung cancer, analyzing DNA that is freely circulating in the blood can provide a holistic view of tumor heterogeneity,” said José Luis Costa, Ph.D., principal researcher of the Institute of Molecular Pathology and Immunology of the University of Porto in Portugal. “Such a broad profile may not always be captured in a solid tumor biopsy because a sample may not reflect the tissue’s full molecular makeup.

“Using NGS, our lab was able to amplify more difficult samples and detect mutations down to 0.14 percent allelic fraction in blood plasma,” continued Costa. “This is an important benefit as data from liquid biopsy samples may help clinical researchers better understand how time and treatment can affect the mutational profile of tumor tissue, and how it may respond to therapeutic intervention in the future. The Oncomine Lung cfDNA Assay offers a targeted approach to access this information.”

The new assay contains gene targets, such as EGFR and KRAS, confirmed as relevant by industry-leading clinical research partners at the OncoNetwork Consortia. Enabling analysis with as little as 1 ng of DNA obtained from a single tube of blood, this assay helps clinical researchers obtain results from the initial sample or samples collected over time from the same subject. Verification data using the Oncomine Lung cfDNA Assay shows 90 percent sensitivity and >98 percent specificity at 0.1 percent limit of detection.

The Oncomine cfDNA Assay is part of a comprehensive solution that enables sample to answer variant data analyses in a single workflow. By using tag sequencing, a technology in which DNA fragments are each tagged with a unique molecular tag, Ion Torrent informatics software simply and easily detects and determines mutations to help limit the number of false positive data points for single nucleotide variants (SNVs) and insertions-deletions (indels) detected at such low allele frequencies.

Precision medicine is an exciting field in which Thermo Fisher is firmly committed to advancing,” said Jim Godsey, vice president of research and development for clinical next generation sequencing at Thermo Fisher. “As liquid biopsies become more prevalent, our end-to-end solution, from automated sample prep, to targeted NGS and analysis, will help take the field a step closer to one day making peripheral blood monitoring a routine approach for oncology treatment.”

Oncomine Lung cfDNA Assay is for research use only; not for use in diagnostic procedures.