The future of personalized medicine: gene patents, DNA testing and FDA regulation

What a lawyer thinks about gene patenting, direct-to-consumer testing and the future of regulation.
Written by Boonsri Dickinson, Contributing Editor

I met Dan Vorhaus, editor of The Genomics Law Report and an attorney at Robinson, Bradshaw & Hinson, last night at a dinner at Chapel Hill, North Carolina. It's not that often that I find someone who has gotten their DNA sequenced, so naturally we talked about all things DNA.

Here is a summary of our conversation:

SmartPlanet: What are the major issues with consumer focused genetic testing?

DV: The big issue is what the US Food and Drug Administration (FDA) is going to do as far as regulation.

Direct-to-consumer (DTC) genetic testing is a young field and there’s a lot of uncertainty about which models will succeed. At the moment there’s only publicly traded company (Interleukin Genetics) that I’m aware of offering DTC genetic tests, so the business models – along with the regulatory structure – are still obviously being worked out.

At the moment it’s easier to generate the data than it is to make sense out of it; to explain it in a way that nontechnical individuals can understand. And there are clear limitations as well that will hopefully improve in time. For example, as you found out when you were tested by 23andMe, people who have non-European backgrounds have limited utility for the tests.

SmartPlanet: Why do biotech founders have a hard time making money? Why is it that software guys can get rich, but not the guys making drugs to treat patients?

DV: Matthew Herper wrote an article for Forbes about this very topic: Where are Biotech's Billionaires? There are only three [out of 400] on Forbes’ list that become billionaires through biotech. I think one major reason for this is that it’s much harder to develop and control the intellectual property in biotech than it is in the software space. You can start a Facebook in your dorm room, but probably not a biotechnology company, at least not to the same degree. It’s much more expensive to conduct a clinical trial for a new drug than it is to develop a new website. You need a lot more money and a lot more personnel.

SmartPlanet: Do you think the FDA should regulate these direct-to-consumer companies?

DV: Regardless of what I think, the FDA has said that they are going to regulate these companies. The devil is going to be in the details.

I do think that some degree of oversight is needed for the DTC industry. The information these companies provide is very personal and has at least the potential for significant misunderstanding and confusion, although we have yet to see those risks really manifest themselves. As for what type of oversight, I’m not certain that the best approach is to treat these products like traditional medical devices but, at the same time, it’s not clear that there’s a clear alternative for an agency like the FDA.

One thing we clearly need is more transparency when it comes to understanding to understanding what the FDA is looking for as it considers how to regulate, as well as what DTC companies are out there and what claims those companies are making. I think there’s widespread consensus that we need to ensure that the products on the market are legitimate ones and that the claims they are making aren’t fraudulent. The National Institutes of Health has proposed a genetic testing registry, which could bring more clarity and transparency to this area. We’ll know more once that is officially launched and we see how it is implemented and what type of participation rate it has.

SmartPlanet: What's a hot area in genetic testing?

DV: There are many, but one would be reproductive testing: for instance, pre-implantation screening and carrier screening. It’s not new in the sense that genetic testing has been available in pre-natal screening, but it is something that is being marketed more directly to consumers and is becoming a bit more comprehensive.

I think this is one area where you are seeing and will continue to see different approaches. Companies can either try to work through the traditional medical framework, using doctors to order the tests and seeking reimbursement from payers, or they can market directly to consumers and attempt to convince them to pay out of pocket. I’ve seen companies exploring both approaches.

SmartPlanet: Have any of these direct-to-consumer testing companies tried to patent genes?

DV: Not to my knowledge. There are a few companies (for example, 23andMe) that are conducting their own research but, for the most part, DTC companies are using published findings (gene-trait associations) and marketing those to consumers. I haven’t heard of any that are identifying new genes or biomarkers and seeking patents. And that’s really one of the core issues in the Myriad Genetics litigation: to what extent will patents on genes (specifically isolated DNA sequences) remain valid in the future?

The case was argued before the Federal Circuit a week ago (4/4). The three judge panel will likely issue an opinion in a few months and, at that point, it is nearly certain to be appealed. While Myriad lost at the District Court level, it’s a guessing game at this point how the Federal Circuit will rule, and whether one or more appeals will be granted.

The earliest, realistically, we could expect a final resolution in the case would be at the end of 2011 or the beginning of 2012, but it’s likely to take a good while longer than that to finally wrap up. The litigation began in 2009 and I’d say, at the moment, we’re likely closer to the halfway point than the finish line.

One of the things that I’m personally most interested in is the guidance that emerges from the Myriad case. More so than are individual genes patentable I want to see if the Federal Circuit, or the Supreme Court if it ultimately hears the case, provides the biotechnology with a clearer path forward for integrating the current landscape and the future of personalized medicine.

To clarify just a bit, we are moving away from the old standard of tests that look at mutations in a single gene (or maybe a handful of genes) associated with a single trait to much broader tests that look at far more biomarkers for complex traits like cancer and heart disease. We’re moving into multiplex testing of dozens or hundreds of genes and, pretty soon, to whole-genome sequencing where we’ll be testing hundreds or thousands of genes and evaluating their effect on just as many conditions.

In some ways it’s the extension of the type of testing you and I have both had done by 23andMe – numerous SNPs, numerous traits. That’s the direction we are clearly heading but, unfortunately, it’s not entirely compatible with the way we have granted gene-related patents in the past. And this could pose a real obstacle to innovation in personalized medicine, including DTC genetic testing.

We all want, from a patient perspective, the patent system to work to promote innovation and not stand in its way. I’m not sure the current landscape is currently doing that in the most efficient way and I hope that Myriad will bring us some clearer guidance on how to get there from where we are today.

SmartPlanet: Have you been sequenced?

DV: I have been genotyped by 23andMe and by another company (which I’ll be talking about in the near future at Genomes Unzipped). My 23andMe data is publicly available at Genomes Unzipped (and also at SNPedia), and I’m also a participant in the Personal Genome Project where I’ve published my genetic data linked to other phenotypic data, including my Google Health Record.

SmartPlanet: Has DNA testing changed your life?

DV: No, not a whole lot. It’s been interesting going through the process and I’ve had all sorts of interesting conversations and interactions as a result, but I didn’t learn anything new and significant about my medical risks. It hasn’t changed my behavior or my day-to-day life. Still, I paid out of pocket for the 23andMe test and I thought – and think – that it was a good deal.

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