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precisionFDA: Why It Matters - Inside DNAnexus

Written by David Shaywitz | Dec 15, 2015 10:02:21 AM

I hadn’t intended to write about precisionFDA going live – this post by Dr. Taha Kass-Hout and Elaine Johanson of the FDA provides a terrific summary, and this post by Angela Anderson of DNAnexus offers valuable additional context. However, I found myself today so excited by this project and what it represents that I can’t resist offering a few additional thoughts about what makes this initiative so special.

First, it addresses an important problem in the field: the analytic validity of NGS tests. The ready availability of relatively inexpensive sequencing has enabled us to contemplate diagnostic sequencing at a scale that would have been difficult to imagine even a decade ago. At the same time, the drive to apply sequencing in different clinical contexts raises a critically important question: do I trust this test? A key starting point for clinical interpretation of DNA data is to agree on the sequence itself. If your procedure and analysis reports that a particular sequence in a DNA sample is “GATCGATC” and my procedure and analysis of the same DNA says the sequence is “GATTGATC,” then we’ve got a problem. precisionFDA will allow users to compare approaches, figure out what’s working, and determine where refinements might be needed.

Second, precisionFDA represents a novel and forward-thinking approach to regulation. Rather than envisioning governmental regulators as the folks who will define and then impose a specific set of performance standards, precisionFDA instead sees the government as providing the platform that will enable the NGS community to evolve the standards on their own — organically and transparently.

Finally, the ability to design, refine, and deploy this platform in such a rapid and agile fashion reflects in part the value of well-conceptualized public-private partnerships, in this case between the FDA and DNAnexus. By intentionally leveraging the skills and capabilities of a company like ours, the FDA was able to implement and realize their exciting and ambitious vision.

The ultimate success of the precisionFDA platform will of course depend upon how well it serves the community it is intended to support. However, it’s hard to think of a more auspicious beginning, and my hope would be that success here will encourage more leaders to evaluate the potential of public/private partnerships to deploy platforms that leverage the power of a distributed innovation community to address important shared challenges.