Five Questions for Kathy Hudson, Director, Genetics and Public Policy Center
Kathy Hudson is the former Assistant Director of the National Human Genome Research Institute, the 13-year effort coordinated by the federal government to map human DNA. In 2002, she founded the center, which is funded by The Pew Charitable Trusts and located at Johns Hopkins University, to focus on public policy issues raised by genetic research.
Q: What's your hope when the new law against genetic-based discrimination takes effect (1- 1 ½ years from now)?
A. My hope is that patients and prospective research participants will be able to make informed decisions about whether to participate in research or whether to have a genetic test unencumbered by concerns that their genetic test results or their participation in research could come back and bite them.
Testing Genes to Find New Treatments
There have been documented cases in which people have said "No, thank
you very much, I won't participate because I'm worried an employer or
insurer will use this information."
[But] there's an even more pressing need. Genetics researchers have been successful in harvesting the low hanging fruit - they've identified the genes that have a strong role in disease and they're now trying to suss out the weaker genetic contributors to common diseases like diabetes, cardiovascular disease, etc. In order to do that, you need lots and lots and lots of people. And it's very clear people's concerns about the privacy of that information, and its potential discriminatory use, would be a significant barrier to doing that kind of study.
Q: What technology enabled us to get to where we are in genetics research?
A: Finishing the Human Genome project in 2003 and then the successor projects have given researchers tools to scan in very fine detail across the entire genome, remarkably inexpensively. So, you can take large numbers of people and divide them into groups of who does and who doesn't have diabetes and identify those places in the genome that are statistically associated with people who do or don't have the disease. That's totally cool, because it identifies who are the individual molecular actors in this particular disease play.
Most of the risks associated with these associations we're finding now are really low - like a 20% increased risk. If you can identify all the genes, then you can figure out how they interact with each other and the Krispy Kreme donuts that you ate this morning. You can really start to target prevention and treatments.
Q: So what might this do for developing gene therapies?
I think we sort of gave up on gene therapy, in the classic definition of "we will add a good copy of the gene that has gone awry." Despite the breathless enthusiasm of old, it hasn't panned out. We don't have the ability or technology to add a gene in a specific location in a person's genome reliably and know how it's going to behave.
[But] if you can understand what molecules are involved and if, in disease, they're interacting aberrently, then you have what people call a "drug-able target." You can figure out how to interfere by adding a chemical compound, a medicine, rather than adding back a gene.
The number of FDA applications for new drugs has fallen precipitously since 1996. During the same interval our investment in biomedical research more than doubled. We've got something totally out of alignment here. And this kind of large scale genetic-association research might be just the ticket to make investments pay off in terms of finding real new targets for new medications.
Q: What role does this leave state or federal government with, in developing new technologies or in creating new opportunities?
A: We now need to focus our attention on the tests themselves. There is totally inadequate oversight of genetic testing in general. Nobody's looking to see if an individual genetic test gets the right answer, reliably, nor are they looking at what that means. Right now, there's no FDA involvement, no direct oversight of the tests themselves and a very strange marketplace developing in which companies are popping up who are selling individual genetic tests or whole genome scans or an entire sequence of your genome. Directly to consumers.
Q: So what would you like to see happen? Would you like to see FDA oversight of those testing services?
A: First, the federal government needs to make sure we know what companies and labs are doing. So we have pushed for a genetic testing registry that includes all the information about the test that's relevant for a consumer or a physician .
Second, there was a law passed in the '80s known as the Clinical Lab Improvement Amendments [CLIA]. The Health and Human Services Department, which is supposed to be enforcing it, hasn't done that. In the total absence of federal leadership, states are starting to jump in. For example, New York state now has own rules - it basically says, "well the federal government is not going to take care of so we will. So if you're going to test a New York state resident, you need to meet our higher [safety and quality] standards."
California sent "cease and desist" letters to approximately 13 companies based on whether or not those are quality tests and quality labs, and whether or not they are misleading consumers.
[But] there's an even more pressing need. Genetics researchers have been successful in harvesting the low hanging fruit - they've identified the genes that have a strong role in disease and they're now trying to suss out the weaker genetic contributors to common diseases like diabetes, cardiovascular disease, etc. In order to do that, you need lots and lots and lots of people. And it's very clear people's concerns about the privacy of that information, and its potential discriminatory use, would be a significant barrier to doing that kind of study.
Q: What technology enabled us to get to where we are in genetics research?
A: Finishing the Human Genome project in 2003 and then the successor projects have given researchers tools to scan in very fine detail across the entire genome, remarkably inexpensively. So, you can take large numbers of people and divide them into groups of who does and who doesn't have diabetes and identify those places in the genome that are statistically associated with people who do or don't have the disease. That's totally cool, because it identifies who are the individual molecular actors in this particular disease play.
Most of the risks associated with these associations we're finding now are really low - like a 20% increased risk. If you can identify all the genes, then you can figure out how they interact with each other and the Krispy Kreme donuts that you ate this morning. You can really start to target prevention and treatments.
Q: So what might this do for developing gene therapies?
I think we sort of gave up on gene therapy, in the classic definition of "we will add a good copy of the gene that has gone awry." Despite the breathless enthusiasm of old, it hasn't panned out. We don't have the ability or technology to add a gene in a specific location in a person's genome reliably and know how it's going to behave.
[But] if you can understand what molecules are involved and if, in disease, they're interacting aberrently, then you have what people call a "drug-able target." You can figure out how to interfere by adding a chemical compound, a medicine, rather than adding back a gene.
The number of FDA applications for new drugs has fallen precipitously since 1996. During the same interval our investment in biomedical research more than doubled. We've got something totally out of alignment here. And this kind of large scale genetic-association research might be just the ticket to make investments pay off in terms of finding real new targets for new medications.
Q: What role does this leave state or federal government with, in developing new technologies or in creating new opportunities?
A: We now need to focus our attention on the tests themselves. There is totally inadequate oversight of genetic testing in general. Nobody's looking to see if an individual genetic test gets the right answer, reliably, nor are they looking at what that means. Right now, there's no FDA involvement, no direct oversight of the tests themselves and a very strange marketplace developing in which companies are popping up who are selling individual genetic tests or whole genome scans or an entire sequence of your genome. Directly to consumers.
Q: So what would you like to see happen? Would you like to see FDA oversight of those testing services?
A: First, the federal government needs to make sure we know what companies and labs are doing. So we have pushed for a genetic testing registry that includes all the information about the test that's relevant for a consumer or a physician .
Second, there was a law passed in the '80s known as the Clinical Lab Improvement Amendments [CLIA]. The Health and Human Services Department, which is supposed to be enforcing it, hasn't done that. In the total absence of federal leadership, states are starting to jump in. For example, New York state now has own rules - it basically says, "well the federal government is not going to take care of so we will. So if you're going to test a New York state resident, you need to meet our higher [safety and quality] standards."
California sent "cease and desist" letters to approximately 13 companies based on whether or not those are quality tests and quality labs, and whether or not they are misleading consumers.
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