Founder and Director
Genetics & Public Policy Center
Name: Kathy Hudson
Position: Founder and Director of the Genetics & Public Policy Center, and Associate Professor in the Berman Bioethics Institute at Johns Hopkins University
Background: Assistant Director of the National Human Genome Research Institute, 1995 — 2002
Senior Policy Analyst in the Office of the Assistant Secretary for Health at the Department of Health and Human Services, 1991 — 1995
Education: PhD in Molecular Biology, University of California at Berkeley, 1989
MS in Microbiology, University of Chicago, 1983
In its three years of life, the Genetics and Public Policy Center at Johns Hopkins University has served as a resource of information for the public and decision makers about the ethical, legal, and social issues surrounding genetics. With independent funding, the center conducts surveys of public attitudes and monitors the adoption of genetic technologies; it projects policy outcomes and performs regulatory analyses.
The issues concerning the center include a few integral to the future of pharmacogenomics, including the reliability of genetic testing and genetic privacy. Pharmacogenomics Reporter called up Kathy Hudson, the center's director, in the wake of a fresh infusion of $3 million in funding from the Pew Charitable Trusts to find out how the center would use the grant, as well as how it saw pharmacogenomics.
Can you tell me, in broad terms, more about the recent funding the center received from the Pew Charitable Trusts?
The Genetics and Public Policy Center at Johns Hopkins was founded through a grant from the Pew Charitable Trusts in 2002. The initial grant, which was for $9.9 million, was to explore issues at the intersection of new reproductive technologies and genetic technologies.
So we spent the last three-plus years looking very carefully at the legal issues, the ethical issues, the regulatory issues, and the scientific issues in the genetic testing of embryos, prenatal genetic testing, and carrier testing, as well as cloning technology and germ-line genetic modification. In the second grant, which is a $2 million grant — we also have $2 million remaining from our first grant, [for] a total of $4 million over two years for this new project — we're going to be looking not just in the reproductive context, but more broadly at what the policy changes are that could be put into effect that could enhance the quality of genetic testing.
What candidate ideas do you have?
Well, we're going to be looking on multiple fronts, and we're defining quality broadly. So, there are [more than] 800 genetic tests that are available today, and only a small handful of guidelines for healthcare professionals to use in knowing who to test, when to test, how to test, and how to interpret a test. And so, one line of work will be trying to address that gap, and the number of tests and the number of clinical-practice guidelines available to help healthcare providers provide the best care to their patients.
We'll be looking at what kinds of issues there are in the laboratories, and how we might enhance confidence in laboratory quality and reliability. And then, there are some issues [that] I think we'll probably begin to explore about where the line is between those tests [that] are considered laboratory services, and are not regulated by the [US] Food and Drug Administration, and those kinds of tests that are considered kits and are regulated by the Food and Drug Administration — and [exploring] what kinds of barriers are presented by FDA oversight of devices and kits.
There are only four human diseases or human mutations that have been evaluated by the FDA. All the signals are that those reviews went quite quickly, and the patient population — the consumer community — can have confidence that there has been an external validation of those tests, and the question is, 'Might we want to broaden that net a little bit?'
How do the issues that your organization studies affect the use of these tests in guiding treatment and other pharmacogenomic issues?
There is a very interesting intersection between diagnosis of disease and diagnosis of potential drug responsiveness, or adverse reactions or dose reactions.
I think now is an opportune time to be looking really carefully at these oversight issues. If somebody is developing a brand-new drug, and they're looking at the response and toxicity in different genetic subpopulations, and find, say, phenomenal efficacy in genetic subpopulation 'A.' They're going to want to submit that to the FDA and say, 'Hey, this efficacy is really great for people in genetic subpopulation A, and those people should have the test.' The companies, I think, are going to have a strong motivation to know that tests that are being offered to identify subpopulation A are accurate and reliable. Right? Because their product success is going to be contingent on the underlying diagnostic.
And so, we believe that currently the oversight systems that are in place largely do not provide the needed degree of confidence in the accuracy and reliability of genetic tests.
This gets into another, related issue, which is direct-to-consumer advertising and sale of genetic tests. Right now, there are companies that are selling directly to consumers various pharmacogenetic and genetic tests. Those are issues that folks who are interested in personalized medicine and pharmacogenomics are going to have to think very carefully about. When is it appropriate [for] people to get a test that is performed in a laboratory with very minimal oversight, and usually no FDA review, in the absence of even a healthcare provider being in the picture? Is that an OK thing or a not-OK thing?
As concerns the direct-to-consumer testing, doesn't there have to be at least nominal physician involvement?
No, it's actually dictated by state law. There are many states in which no physician or healthcare intermediary is required at all. And there are other states where a physician intermediary is required, but that intermediary can work for the company that's offering the test.
Do you expect direct-to-consumer genetic tests to eventually gain the attention of federal regulation?
I don't think that I could make a clear projection there. Direct-to-consumer genetic testing has certainly drawn a lot of public interest lately. Some of the tests that are being offered directly to consumers are tests that have been well validated, and are in widespread clinical use today. There are other tests that are being sold directly to consumers that, frankly, are completely bogus.
There are concerns in the genetics community — and I use [that] broadly to include the private sector, the healthcare providers, and the research community — are concerned that having tests out there that are either inaccurate, or bogus, or potentially offensive, is going to cause mud to splatter on the whole enterprise.
And so, certainly there has been increasing attention among the scientific professional societies to direct-to-consumer advertising, and I think that will grow. So, whether the response is a professional self-regulation response, or if it's a state-law response, or if it's a federal response, or if we just sort of let the market take care of the market — in the absence of any kind of quality or accuracy oversight at the federal level, the DTC world can really get a little wild and wacky.
The issue of privacy sometimes acts as a barrier to research, in retrospective studies and the like. How do you see that playing out?
Well, I think there is a distinction to be made about privacy and confidentiality, and about use and misuse of information. Last year, the Senate passed a bill that would prohibit employers and insurers from using genetic test results in a way that's detrimental to patients. That bill has not been acted on in the House [of Representatives].
I think if we could put in place strong legal protections against the misuse of genetic information, then people's anxiety about loss of privacy, about what they may view as especially sensitive information about what's contained within their genes, they hopefully will see the incredible benefits, if not directly to them, then to the broader social good of participating in research. But I think we need to have those strong protections in place before we can, with a straight face, give people absolute guarantees that this information won't come back and bite them.
What are some of the major concerns about misuse of genetic information?
I think there's widespread concern that people's genetic information will be used to deny them health insurance coverage. That's only partially true, because in the '90s, we passed a law that included protection for genetic information in the group health-insurance market. The individual [health insurance] market is unprotected.
The real vulnerability, at the present time, I think, is in the workplace, where an employer has the right to access your medical information before he signs on the dotted line that he wants to hire you. And given that employers are paying for healthcare, paying for training, and investing in their employees, are they going to be less excited about hiring somebody who has a few glitches in their DNA, like we all do?
So, those are the two areas that are most in need of protection in the short term.