Chris Callahan, GeneInsight: Interview Q&A

Q: There are many solutions available in support of the molecular and genetics testing labs workflow. What are some of biggest challenges molecular and genetic testing labs have to overcome?

A: Currently, labs are really struggling to find a way forward as the solutions available are ‘point’ solutions that do not cover the breadth of the workflow. They are having to piece together a variety of different, highly specialized tools, many of which have been adapted from the research use case. This is not helping them to scale their operations, bring down costs, and reduce complexity.

Q: The entire workflow from tissue samples to actionable reports/communicated recommendations is complex and includes many components (including sample prep, sample management, data analysis, data interpretation, and reporting of actionable findings). What is required to optimize and streamline this workflow? What is required it make it workable/usable for testing labs? What has been achieved so far and what still needs to be developed to make this a smooth process for example in human diagnostics? What solutions will address those challenges and why?

A: Well what we’ve heard from our customers is that they need a comprehensive solution.  As you say, there are many steps that are highly variable based upon the assay and layering multiple solutions on top of the complexity does nothing to address the scalability issues.  A lab spinning up or scaling up these genetic tests needs a solution from the wet bench to the dry lab.  On the wet bench side, a lab needs to manage their inventory, samples and QC at a minimum.  On the dry lab side, labs need to manage vast amounts of data efficiently, using embedded knowledge to quickly produce clinical reports with actionable information such as pertinent variants, drugs and clinical trials.  Labs also – and this is crucial for health system based labs – need to be able to integrate with EMR’s.  Our single solution addresses all these needs.

Q: Molecular and genetic testing is progressing quickly, particularly in the area of NGS-based human diagnostics. What do you envision future solutions will look like that successfully address scalability, guaranteed delivery time, reduced complexity, while being cost-effective?

A: One of the primary changes we see in the future is that (some) informatics systems will embed enough expertise and knowledge and automate enough workflow out of the box such that the very powerful diagnostic tool that is NGS will be a reality for most labs out there.  This will take extensive partnerships between both software companies and what I like to think of as ‘knowledge companies.’   Our strategy is to combine the best knowledge with the best workflow and unlike most of our competitors we don’t believe that this can be done well by just one company.  You’re either a software company or a knowledge company.  We are very open on that front.  We have many such partnerships and only see that growing.   We strongly believe that molecular and genetic testing is foundational to precision medicine and we can help everyone out there realize its promise.

Q: How important is the regulatory component when thinking of a complete workflow from samples to findings to deliver on the promise of precision medicine?

A: I’m really glad you asked this question.  We think the regulatory aspect here is crucial.  Clinical testing is a very different animal from research.  Not only the workflow but the quality assurances and the rigorous testing standards required.  All our solutions are listed with the FDA…and not as RUO but as a Class 1 device.  GeneInsight is the most clinically mature product on the market, having been in continuous clinical use since 2005 and processed over 50,000 clinical genetic tests.

Q: Is there anything else you would like to add?

A: I would say in closing that molecular and genetic testing is a core growth strategy for Sunquest.  We are investing in our solutions here significantly.  We believe it in its future.  It took 40 years for blood chemistry to become a standard of care.  Obviously technology moves much more quickly today, but we are still a long way from an exome being the equivalent of a CBC.  Labs will need to be mindful of that adoption curve as they choose an informatics partner.