Do you have help among your colleagues to do this assessment?
Dr. Segal (University of Chicago): We’re fortunate that we have a diverse group. We have faculty doing tumor genomics, HLA, cytogenetics, FISH, and inherited genetics. They each regularly evaluate new technology options for their area of expertise, and then we discuss them in our group meetings.
Ul Balis, same question. Are you keeping up?
Dr. Balis (Michigan Medicine): We are trying to. When you think about the intersection of molecular and informatics and the institutional architecture, that’s a lot of balls in the air. It’s moving so quickly and it’s going to take a village to keep up. We have internal meetings in which we calibrate on the so-called art of the possible: What is possible? What are we doing now? What is the gap? What do we need to bring on board? What do we need to outsource, at least for a bridging period?
All the data formats associated with these new testing platforms raise the issue of interoperability. If it is done well, it can be amazing. LOINC, for example, is theoretically an interoperable tool for describing test types and reference units, but because of the lack of adjudication by its central coordinating body, it isn’t what it needs to be. In these early days of creating or extending new standards, especially for molecular documentation, we need, as a collective body of organizations—CAP, ASCP, AMP, API—to get together and nail down interoperability at the instrument and data representation levels. For example, in the current cacophony of the subtle variations for how variants and evidence are described and how primary data is maintained, without standards we’ll be hamstrung when we acquire even more data and can’t share it collaboratively. That’s what I lose sleep over—not just keeping up with the technology but finding a way, as an organized specialty, to keep up with the interoperability of the new data formats we’re acquiring.
To the instrument vendors, what are the biggest challenges for your company for the remainder of this year?
Dr. Del Moral (Illumina): For us it’s to continue interoperability. Continue our strategy to develop a platform that can do more than sequencing, one that can provide the insights our customers need. And to focus on the entire workflow and data insights. Competition is growing and provides us with an opportunity to better serve our customers.
Dr. Costa (Thermo Fisher): Probably the biggest challenge we’re working on is related to changing systemic and long-standing clinical practices. We’re working closely with oncologists, pathologists, patient advocates, payers, and health systems to change today’s testing paradigm. We firmly believe rapid NGS testing needs to be accessible to any patient who is eligible, and this begins with immense collaboration and coordination across stakeholders.
Dr. Boles (Qiagen): The challenge and opportunity is to generate data to demonstrate the value proposition of our workflow. We aim for platform-agnostic solutions for informatics and NGS library prep. We will continue to generate data, work with customers to help them find the right technology, the right assay to best serve their customers. We will compete in the marketplace to offer customers the best workflow for their needs.