Thermo Fisher Scientific Launches Ion AmpliSeq HD Technology

Thermo Fisher Scientific has announced the launch of its Ion AmpliSeq HD technology, the latest next-generation library preparation innovation that provides clinical researchers with the flexibility to custom design gene panels, without sacrificing the ultra-high sensitivity required to find low-frequency variants in cell-free DNA (cfDNA) and highly heterogeneous solid tumor samples. The new product for targeted next-generation sequencing (NGS) oncology and genetic research applications is being featured at the 2018 European Society of Human Genetics (ESHG) conference (booth #350) in Milan, Italy, and later this month at the 2018 European Association for Cancer Research (EACR) conference (booth #53-54) in Amsterdam, Netherlands.

Until now, clinical researchers have relied on fixed NGS gene panels to carry out applications that require ultra-high sensitivity capability, but the ability to combine panel customization with exceptional sensitivity has long been sought after by customers, particularly for liquid biopsy applications. This has led Thermo Fisher to develop Ion AmpliSeq HD, a new library prep technology that enables custom design flexibility for single nucleotide variations (SNVs), small insertions/deletions (indels), fusions and copy number variation (CNV) detection with a limit of detection (LOD) as low as ≤0.1 percent in blood samples.

"Ion AmpliSeq HD panels allow me to interrogate highly heterogeneous tumor samples for my targets of interest," said John Thompson, Ph.D., IVD Development Leader, Personal Genome Diagnostics (PGDx). "We are able to detect specific variants as low as 0.1 percent, and the workflow allows me flexibility based on my needs."

The heightened sensitivity achieved with Ion AmpliSeq HD is enabled with proprietary molecular tags, while dual barcoding of the fragments of interest helps enhance accuracy in fragment identification and sequencing using the Ion GeneStudio S5 Series instruments. The technology also provides workflow improvements that reduce library preparation time to less than three hours.

Similar to the original Ion AmpliSeq technology, Ion AmpliSeq HD leverages the same two-day, sample-to-answer workflow that's easy to implement in any NGS laboratory. In addition to its successful application in oncology research, Ion AmpliSeq HD has also demonstrated application in inherited disease research, as presented during Thermo Fisher'scustomer talks at ESHG, with potential use in infectious disease research, microbial studies, and gene expression analysis.

"For studying mosaicism in rare genetic diseases, we needed a genetic analysis technology that is highly sensitive and capable of discovering novel variants," said Line H. G. Larsen, head of laboratory, Amplexa Genetics. "Ion AmpliSeq HD solution enables me to detect transmission of pathogenic variants from mosaic parents. With this technology, we look forward to finding new insights about the causes of these types of genetic diseases."

"As oncology research continues to evolve at a rapid pace, so has demand for advanced tools that can keep pace with the needs of our customers," said Andy Felton, vice president, product management for clinical sequencing at Thermo Fisher Scientific. "We have built upon the knowledgebase from our market-leading AmpliSeq technology to now provide a solution that raises the bar for library prep by combining flexibility with ultra-high sensitivity."

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