A few weeks ago, the U.S. House of Representatives’ Energy and Commerce Committee held a roundtable discussion on personalized medicine as part of its 21st Century Cures initiative. Chairman Fred Upton (R-MI) and Rep. Diana DeGette (D-CO) led the discussion with participants representing various stakeholders in personalized medicine, including FDA, physicians, clinical laboratories, investors, researchers, the pharmaceutical industry, patients, and the IVD industry. While the roundtable covered a wide range of complex issues, some of the participants made comments about the important role of companion diagnostics. Below are highlights of those comments:
Franklin Cockerill, Chair, Laboratory Medicine and Pathology, Mayo Clinic:
The challenges are related, from my perspective in the laboratory world, first of all to funding the discovery. We’re seeing decreased funds at the national level for biomarker discovery, which is important and relative to the discussions here. That is a challenge for us at Mayo. We do have some of our own funding in development that is continuing to provide and close that gap. But that’s really important. Second thing is moving that discovery and translating it to valid tests. In this country, it’s just amazing the technology that has occurred and continues to happen here related to laboratory diagnostics. It’s kind of ahead of the translation and the biology, and we have to pull those all together in a rational way so we can deliver safe testing to our patients.
Patrick Groody, Senior Director, Integrated Business Planning, Molecular Diagnostics, Abbott:
In my more than thirty-year experience in the diagnostics field, I can honestly tell you I’ve never been more excited. We’re saving lives, and we’re equipping our scientists with tools that are unlike those that many of us grew up with. One of the challenges we face is that we think this is happening quickly, but I can assure you that the pace in which these developments occur is only going to accelerate from here. I certainly agree we need to fund the basic research. We also need to fund the education that it’s going to take to train the young scientists who are going to help us deliver the true promise of personalized medicine. As excited as we get about the breakthroughs that we’ve had, it’s clear we’re only scratching the surface. Clearly as we develop these large volumes of data and try to integrate it and understand what it means and validate it so that we understand from a clinical perspective how we can use that data to manage patients, that will become increasingly challenging as we go forward.
If I look at it from the perspective of industry and what we’ve seen, I know that in some of our experiences with our companion diagnostic programs, we’ve seen some incredible openness with FDA. We’ve had some very good dialogue early in the programs. We’ve seen a completely different approach to that than what we may have seen 10 or 15 years ago. So while there remains a lot of work to do from a regulatory perspective, and it’s very important that we understand FDA’s position on the regulatory perspective going forward and the things they have identified and the approaches they intend to take, I think the signs are very encouraging. I think FDA understands the importance of taking innovation from the laboratory and getting it to the patient bedside. I know we look forward to working with them to develop the framework to do that in a risk-based way that is meaningful for all the parties involved.
Jeff Shuren, Director, Center for Devices and Radiological Health, FDA:
The real lynchpin is having accurate and clinically meaningful diagnostic tests. If you look at the future, and I think it’s even here today, one of things that’s going beyond just tests that look at an individual mutation or individual genes is looking at the entire genome of patients, where we may not even know the answers today but we have the genome already laid out. Three years ago, we started to work with the developers of whole genome sequencers because they were struggling and we were struggling with how do you show that test is accurate. Here’s why. There are three billion building blocks in your genome, and there are about three million different variants. You can’t show accuracy to all that.
So we worked with the companies, and we got data. We worked with the National Institute for Standards and Technology, and we gave them funding. We helped develop a reference standard, a subset of genes that if that sequencer is fairly accurate looking at those, it’s good enough for the rest of them. Then we went further and we said the science is now developed so we’re going to down regulate these. If you just want to use a sequencer to identify the array of genes someone has, then you don’t know have to come to us for premarket review. Go ahead and look at that reference standard, make sure you meet it, meet some other controls, and that’s good enough. We think this will start opening up where all of us are going to have our genomes sequenced, they’re going to sit in electronic health records, and it’s there to help diagnose you in the future if you need it, and help companies pool that data and start looking for new cures and new diagnostics.
Franklin Cockerill, Chair, Laboratory Medicine and Pathology, Mayo Clinic:
We believe that tests have to be adequately validated. There has to be regulatory oversight, and we agree with that. Regulatory is one of the issues that may be a barrier, but not from the perspective of adequately validating tests. It’s a matter of that regulatory oversight that’s not organized, involves multiple groups, and is not harmonized. What we would love to see that would improve this redundancy if you will and move this technology forward would be to see cooperation and harmonization between the federal regulatory agencies, let alone the states that we deal with as well. The other thing is reimbursement. That should relate of course to the validation, and that hasn’t been coordinated very well with validation and oversight from regulatory agencies.
A webcast of the full roundtable can be accessed on the Energy and Commerce Committee’s website.
