The Association for Molecular Pathology (AMP) 2016 annual meeting was held in Charlotte, North Carolina, from November 10 to November 12. The conference drew just over two thousand attendees, similar to last year, with over two hundred exhibitors.  The theme of this year’s conference was “Big World. Molecular Medicine. One Community.”

The exhibits featured a number of product introductions for clinical molecular diagnostics. Illumina launched a 170-gene NGS solution called  TruSight Tumor 170.  The product is touted to be the “only enrichment base to integrate DNA and RNA” on the market. The solution offers a workflow that can simultaneously target cancer-related aberrations, including SNPs, copy numbers and splice variants.  Illumina has invested a great deal into the underlying enrichment and assay methodology, allowing for universal use and as an underlying platform for applications beyond solid tumor profiling.  The standardized methodology can be customized, and is flexible to allow for universal utilization.  The cost of the assay is $625 per sample.

Oxford Nanopore Technologies showcased the MinION, which became commercially available in May 2015.  The MinION has up to 512 channels for sequencing. The main improvements since its launch have been in regards to accuracy, which has improved from 90% to 97%, and the 9.4 version can process 10 GB in 48 hours. Subsequently, Oxford Nanapore Technologies launched the PromethION flow cell, which utilizes the same technology as the MinION, but has a much larger chip, allowing for up to 3,000 channels for sequencing. The target markets for both products are customers requiring real-time sequencing.  However, given the capacity of the PromethION, the product is geared towards larger labs with a need for assay development.

At the show, Agilent Technologies released the Cartagenia Bench Lab 5.0 version. The major new capability is the ability to perform somatic analysis. In addition, the software incorporates new knowledge sources (i.e., the CIViC database) along with variant information from curated and public databases. The database builds upon the current platforms for somatic variant classification and reporting tools. The software allows users to view data on a single screen with respect to SNPs, allowing for full-analysis capabilities for clinical geneticists and molecular pathologists.

Rubicon Genomics unveiled a new Thruplex Enrichment Reagent Kit at the meeting. The product’s main purpose within the company’s current portfolio is to connect the Rubicon Genomics Kit to Agilent Technologies capture probes (i.e., Agilent SureSelect).  The kit is designed to simplify the current workflow and is due to start shipping in December 2016.  The product is focused on targeted sequencing, with pricing yet to be finalized.