Among the major announcements at ACMG in Phoenix, were two major product reveals from Agilent Technologies. The crowds at their exhibition stand were treated to a first look at the Alissa Clinical Informatics platform, and version 2 of SureSelect Clinical Research Exome.Agilent Booth ACMG

Alissa is the fruit of the acquisition of Cartagenia two years ago. Building on Cartagenia’s existing platform, Alissa will allow users to start from sequence reads, perform alignment and calling, interpretation and reporting, in a very clean way. Streamlining is at the heart of the system’s development. At the outset, the intention was clearly to give users consistency and scalable infrastructure.

 “The launch of Agilent Alissa really marks the launch of a new brand for genomics software,” said Steven Van Vooren, Product Marketing Director for Agilent, when speaking to Front Line Genomics.

“What labs are doing right now is what we call ‘mix and match’. They’re downloading research tools, running a range of aligners, using their bioinformatics staff to cobble internal and commercial tools together, rolling their own workflow and QC, and in a high-throughput setting, that’s not scalable. It’s not robust. We wanted to put a platform in place that will support the entire Next Generation Sequencing bioinformatics pipeline.”

Both sides of the platform have been designed with scalability and reproducibility in mind to enable researchers to adapt the system to their own needs. Alissa Align & Call, now in the early access phase, features cloud-based analysis workflows with attention to visualization and quality control specifically designed for a clinical research setting. Alissa also offers a support structure from field applications scientists to help new users get set up and existing users to process their data more quickly and conveniently as their volumes grow and they launch new tests.

A scalable, hosted solution, great support, and integrated QC and genome browser make this a very exciting prospect for users.

The second ACMG reveal from Agilent was the SureSelect Clinical Research Exome V2, developed in collaboration with Emory University and the Children’s Hospital of Philadelphia.

Agilent Booth ACMG 2 The pace of change is such that our understanding of disease-linked genes is constantly improving. New genes are identified as relevant all the time, and some that were previously considered clinically relevant get downgraded. Version 2 brings us right up to date, while also including additional information about the non-coding region of the genome that is not typically included in exome tests. Agilent have also boosted the coverage on previously identified genes that are now considered to be of higher importance in disease development. This makes V2 of the Clinical Research Exome, one of the most comprehensive research tools out there.

“With Emory, for the first time ever, a commercially available exome comes with a gene list with associated disease relevance,” explained Corinna Nunn, Associate Director of NGS at Agilent. “It’s curated by Emory and has lots of information that was never available before. We’re providing researchers with a tool where they can, with a catalog product, have everything that they’re looking for without having to add that extra information themselves.”

As Steven pointed out with the ‘mix and match’ approach adopted by many labs, flexibility in tools always desirable. This is particularly true of gene panels.

 “We update our gene panels consistently, but with our custom capability, customers can easily update and design panels themselves,” said Nunn. “You’ll seldom get consensus from one lab to the next on what a perfect panel will be. So, we make it easy for them to custom design, so they can add or remove genes as they please and design panels for their particular preference.”

So, two big announcements from Agilent at ACMG, showing once again why their customer base remains so loyal, and what makes them one of the most trusted names in the industry.