Pushing the data boundaries to advance healthcare

ESHG17 Lexogen Blue Bee workshop 800x800

Over the last two weeks, the BlueBee team attended both Bio-IT 2017 in Boston and the European Society for Human Genetics conference, ESHG, in Copenhagen, Denmark. These events were content-rich, once more demonstrating that the field of next-generation sequencing has matured and is steadily moving towards addressing both existing and new challenges associated with large sequence data and the many powerful applications resulting from these impactful technological innovations. Examples of some of these challenges, needs, and new developments were front and center at these two major conferences.

The Bio-IT World conference had a number of excellent keynote talks, including Edison Liu from the Jackson Laboratory on exploring disease complexity and creating a mouse for every abnormal network which will provide a higher resolution of information. This network-centric approach instead of the classical evaluation of single mutations represent a truly amazing technology with huge potential. Perhaps most intriguing from an IT perspective was a panel discussion on cybersecurity and hacking, and the emphasized gap between experience and expectations to achieve goals across the industry – actually a perfect example for the need for controlled data access, sharing, and collaboration. This topic was further echoed throughout the Expo and in discussions across the industry, be it from pharma, the diagnostics arena, or in clinical research.

These are all issues that we have given a great deal of thought to as we designed and built the BlueBee genomics platform. We see that security and compliance are some of the most important components, and as such we have put a lot of emphasis on delivering a solution that addresses necessary local security requirements and ensures data privacy. At the same time the platform also needs to deliver on the necessary access controls, all while presenting itself as a solution for data management that ensures that all data compliance needs are considered with necessary consent, if and as needed. Having the robustness and flexibility to configure the environment needed to scale to your needs at short notice, is another key trait of the BlueBee platform and one that I believe will be most attractive and instrumental for most researchers in pharma, major genome centers, or diagnostics labs.

Interestingly and not surprisingly, at the 50th ESHG conference the clinical aspect was front and center, with a variety of precision medicine applications pushing the field forward, including liquid biopsy advancements in diagnostics, as well as applications of DNA-seq and RNA-seq. Along those lines, George Church, this year’s Mendel Award winner, painted an amazing and sometimes worrying picture of future genetic technologies. Not only did he point out that only 1% had their own genome sequenced, but that DNA synthesis is scaling as fast as sequencing. Therefore, writing a new genome may be easier than directed editing, referring to the much praised CRISPR technology (listen to his fascinating Mendel Lecture). Last but not least, coinciding with those conference focal points we ran a well-received workshop in conjunction with the Lexogen team that demonstrated how streamlining RNA-seq experiments with an optimized end-to-end solution will expedite laboratory experiments, help you control your budget, and simplify data analysis. Consult the Lexogen case study to learn about the specifics of this end-to-end solution and how we could help you build similar end-to-end solutions for other type of experiments and kits.

It is reassuring to see that our flexible and robust platform addresses the major needs of today’s researcher, be it a computational scientist, a bioinformatician, a bench researcher, or a clinician. Being able to deliver on the data analysis, management, and security requirements while addressing key challenges via our robust and constantly evolving platform, will further remove data boundaries and propel precision medicine enabled healthcare forward.