Rodrigo Barnes CTO Aridhia Informatics

Healthcare Providers Should Increase Quality and Encourage Novel Applications of Genomic Sequencing in New Disease Areas

I’ve been involved in lots of discussions about the future lately. Particularly the future of medicine, the future of data science, and how these topics merge around the potential for genomics to contribute to clinical care. It has long been anticipated, but that translation from science to treatment isn’t quite there yet.

Next-generation sequencing (NGS), particularly whole genome or whole gene sequencing, is poised to impact clinical services beyond research projects and clinical trials. Clear applications exist in rare disease diagnosis and cancer treatment decision support, as well as in stratification of treatment in other disease areas. The problem that exists now is that genomics is still largely used and discussed by academia, and not intended for diagnostic use. We understand the applications, but we still need to make the leap from experimental to mainstream; to demonstrate how and why genomics is the future of medicine.

To do this, healthcare providers need to take control of the operation of genomics, to drive quality upwards and encourage new applications of genomic sequencing in new disease areas.

Storage and Analysis

The potential offered by genomic testing is growing, but a new generation of information technology needs to be developed to answer many of the outstanding questions regarding the storage and analysis of data. For healthcare providers, a key challenge is establishing an operational environment that accommodates a range of sequencing and annotation providers. There is little information in the mainstream about what is required, or what the operating model will be.

The kind of computing, data management, and desktop tools required are far beyond what is normal in health IT. At the same time, we appear to be in a period of variability as standards are established. While sequencing technologies are relatively stable, there is much variation and complexity in how annotation products are deployed and how they integrate with mainstream health IT.


Annotation is at the heart of the current variability in genomics. There are currently many vendors providing annotation services. In the U.K., Genomics England has been working with 10 or so providers of annotation, having assessed 30 groups. At the same time, annotation vendors are offering their services directly to NHS customers for both whole genome and the more established clinical exomes and gene panels. In the U.S., there is a market for analysis with vendors such as Tute Genomics, Genospace, and others providing a transactional SaaS model.

Innovation is inherently messy. What’s needed are new models for translational informatics that provide stepping stones between research and service delivery and the variable approach of multiple vendors, that is to say, for genomics to reach the tipping point where information can be easily standardized, and applications can be easily built and deployed using existing core technologies.

That is what’s driving our approach to support “operational genomics” and precision medicine, coupled with the belief that a Platform as a Service (PaaS) model for annotation should emerge as the most successful.


A background in collaborative analytics for health research is a good starting point to understand the needs of both communities. Accelerating the adoption of genomics in the clinic starts from a healthcare perspective, but understands the needs of bioinformatics, as well as collaboration with academia and life science start-ups.

A comprehensive PaaS model should enable healthcare providers to take control of the quality and operational efficiency of annotation. More importantly, it should mean that they can invite annotation providers on their own terms, and ensure that those products can be procured, managed, and demonstrate value for money. For academic partners and SMEs/start-ups, it should provide a complete environment to test, improve, and validate new annotation products in open architectures.

With the right platform, genomics could be an integral part of health service delivery by empowering healthcare customers, while supporting an open market in annotation and innovation. The future will bring fresh insights into correlations between patient, clinical, and genomic data and translate these insights into improved clinical pathways, and that’s definitely a discussion worth having. 

Rodrigo Barnes ([email protected]) is Chief Technology Officer at Aridhia Informatics.


This article was originally published in the July 2015 issue of Clinical OMICs. For more content like this and details on how to get a free subscription to this digital publication, go to

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