Name: Gail Javitt
Position: Policy Analyst at the Genetics and Public Policy Center at Johns Hopkins University, 2002-the present
Background: Associate at Covington & Burling, 1995-1999
Education: JD from Harvard Law School, 1993
Master's of Public Health from Johns Hopkins University, 2000
The US Centers for Medicaid and Medicare Services have not updated their rules for genetic testing despite more than 10 years of urging by various federal advisory committees for greater oversight of the industry-aside from issuing a Notice of Intent of proposed rulemaking five years ago-according to the Genetics and Public Policy Center, a Washington, DC-based policy organization.
This week, the GPPC sent a letter urging CMS administrator Scott McClellan to institute changes because "scientific and technological advances in genetic testing have outpaced the government's ability to provide adequate oversight" to ensure quality and safety, according to a GAPPC statement. Pharmacogenomics Reporter spoke to Gail Javitt, the letter's author, this week to learn about the implications of CMS oversight for personalized medicine.
What is the history of these calls for oversight of genetic tests by CMS?
In the mid-1990s, the government started to notice that there was a rise in genetic testing, and started to call for greater oversight by both FDA and CMS to ensure the analytic and clinical validity of tests.
Since that original task force, which recommended more regulation of genetic testing as a specialty under the Clinical Laboratories Improvement Act, there have been other expert advisory committees that have done the same. In 2000, the US Centers for Disease Control and Prevention, on behalf of CMS, issued a Notice of Intent saying, 'We're thinking of proposing a specialty area under CLIA for genetic tests.' And people did submit comments, and suddenly nothing happened. I'm not really sure why.
To some extent, there was some controversy over some of the provisions, but as to the idea of creating a genetic testing specialty, our impression is that it was pretty favorable. Under the CLIA [law] of 1988, tests have a gradation of compliance depending on complexity. Genetic testing is highly complex, just like some infectious disease testing, but unlike other high-complexity tests, there is not a specialty area for most genetic tests.
So, essentially they haven't gotten around to genetic tests yet. While that was understandable at the beginning — when the statute was passed in 1988, there wasn't a whole lot happening in genetic tests — but that's certainly not the situation today, and so the regulations have not kept pace with the explosion of genetic testing.
How does this impact the industries concerned with pharmacogenomics?
Here's what we're worried about. The theory of pharmacogenetics, which holds tremendous potential, is based on the availability of safe and accurate tests. If that premise is not fulfilled, then the promise of pharmacogenomics is not going to be realized. And so we're concerned that the infrastructure is not there to support the potential explosion of pharmacogenetic tests.
There's a very fragmented regulatory environment right now. If one lab is making the test itself — so-called homebrews or in-house developed tests — then nobody's looking at the test. CLIA should be looking to make sure that they're doing it right, but there's not a specialty area to help that along. Nobody is looking to see if [for example] a mutation correlates with health status.
On the other hand, if a pharmacogenetic test is performed using a 'test kit,' or in vitro diagnostic product, then the FDA reviews it. So, there are two paths — one path is highly regulated, and the other is not. I suppose you can guess which is the larger [most used] path right now.
What are some of the concerns related to increased oversight?
A lot of commenters commented on the issue of whether a laboratory director needs to have evidence of clinical validity before offering a test. Before a drug goes onto the market, [the FDA] makes a thumbs-up or thumbs-down decision. In contrast, it's the laboratory director of each laboratory who decides whether a test is ready for prime time.
So, what is the level of data that [a] laboratory director needs to have? It's not defined. In theory, they need none. And so one of the issues was to have some sort of demonstration of clinical validity before offering a genetic test. That drew a lot of concern, but also support. What does that mean? It could mean anything from premarket review to a submission concurrent with marketing. We don't think we have the answer, but we do think that some experts should assess whether a test provides value to a patient before it's being offered to the public.
Has the lack of oversight of genetic tests hampered pharma's interest in pharmacogenomics?
I'm not sure which way it cuts for pharma, but certainly it would not be in their interest to make claims about a drug unless they trusted the test.
Do you expect the regulatory environment to change?
We're certainly hopeful. There was a whole lot of momentum starting in the mid-90s towards government oversight of genetic testing. And it's not like there haven't been a lot of expert advisory committees looking at this — lots of smart people have assessed the situation. There have been numerous reports, yet the ball hasn't moved, and we think that it's time that it does.
Is there any movement toward further subdividing regulatory oversight of genetic tests into more categories, perhaps based on complexity?
There was an attempt by the [Secretary's Advisory Committee on Genetic Testing] to create a division of categorization, and they gave up. On the other hand, sort of intuitively, it makes sense that tests — where the technology is more complicated, where the implications of the results are more profound — should merit a higher degree of scrutiny. How you do that in practice — I think that's something people need to think about more, but there needs to be a realization that we need to think about it now, rather than later.