Dov Greenbaum is a professor at the Yale School of Medicine and a practicing intellectual property attorney who studies the bioethical issues in personal genomics. With the cost of genome sequencing falling from several million dollars to a few thousand dollars over the last six years, there has been a surge in companies that offer cheap personal genome sequencing and analysis. In March, Greenbaum published an article in the American Journal of Bioethics about developments in personal genetic sequencing. The News spoke with Greenbaum about his views on recreational genome sequencing and the ethical and legal questions that arise when consumers face unsavory incidental findings in their DNA.
Q. In your paper, you discuss how actionable genomic information can be used to evaluate athletes. What exactly is actionable information, and how is it determined?
A. Actionable information, when I use it, means information that has real life applications today. You know what the application is and you know how to use it. It can tell you have to be aggressive in treatment, and it guides you. With non-actionable data, you don’t know what it means, and even if you did know what it means, you don’t know what to do with it. For sports, what I think is most actionable is the genetic information for propensity for some sort of injury, or that is related to your prognosis for recovery from an injury. There are more obvious signs, like the gene for predicting whether or not you’ll get Alzheimer’s. You can also predict an athlete’s prognosis post-concussion.
Q. How accurate are these genetic sequences? How worried should someone be if results say that someone has a propensity for a certain unpleasant disorder?
A. It depends on what you’re sequencing, the nature of test, how you’re testing it, and who is running the test. It also depends on what you mean by accuracy. But I can give you an example: We know that many genetic alleles that can result in Tay Sachs, but we don’t know the entire range of mutations that can result in Tay-Sachs. We can’t be 100 percent sure you won’t get Tay-Sachs, only to some degree we can be certain. We can do biochemical assays where you would test the results of that gene and protein activity of the protein made by that gene. We are certain based on what we know, but what we can’t be certain about is whether we know everything that can cause Tay-Sachs.
Two providers who run the same DNA can come up with different results not only because of the analysis but also the interpretation has a human component. There’s also thresh holding — the way I threshold is different from how another person thresholds. You can be certain you don’t have a particular mutation, but just because you don’t have mutation X doesn’t mean you don’t have disease Y.
Q. With the cost of sequencing genomes decreasing, companies offering relatively inexpensive sequencing are proliferating. Can you discuss some of the ethical issues with these companies?
A. There is a whole host of ethical and legal issues that can come up [with this type of sequencing]. Do you report incidental findings to the patient or the patient’s family, and do you report the findings to the patient’s family even when the patient requests not to? What about patient privacy? Can you sell the data? What should we tell the patients to do with the data? Can you give the patient raw data? What if the results aren’t clear?
For the most part, these [direct to consumer] companies aren’t doing sequencing; they are doing arrays — they are just looking for some million mutations, which is a lot cheaper. The questions are harder if you’re doing sequencing. For arrays, there’s less information for you to dig through. There’s less chance for an incidental finding, whereas for sequencing, you will find everything.
Q.What kinds of changes do you think the FDA should make in order to make personal genomics companies adopt more ethically sound practices? What information should a client be aware of?
A. It should be made clear that there is no such thing as recreational genomics. The FDA needs to make sure that laboratories are regulated and should create further disclaimers that make it clear that this is complicated data. You should consult a genetic counselor or physician before you take any of the data and implement it. The information is not straightforward and should be viewed with the help of someone who knows what they’re doing. One of the major issues here is that we don’t want to scare people away from doing analysis because the data that is created is immeasurably useful, but also don’t want to harm those that have their DNA analyzed. Regulations should, on one side, not have a chilling effect on the creation of the data, but they should protect users on unintended consequences. We want to promote analyses to create a network effect because everyone can benefit from more information. But it shouldn’t be at the expense of the individual consumer who might do something they shouldn’t do because they misunderstood the data.