Francis S. Collins, M.D., Ph.D.
National Institutes of Health
“Of course, this does raise issues about ethical, legal, and social implications and that has been the reason the ELSI program, I think, has been a flagship of trying to anticipate those issues. This paper, which now looks a little dated from eight years ago, was the paper that we published at the time the Human Genome Project essentially was completed by the finishing of a human genome sequence and all of the other original goals. This fanciful house here, which is intended to look a little bit like Falling Water, was Figure 1 in that article. You will see there were three levels, genomics to biology, health, and society. Then there were six cross-cutting areas that held it all together and ELSI being an important part of that touching on all of those floors.”
“Those would be in genomic research, in genomic medicine, legal and public policy circumstances, and broader societal issues. This might be a useful document to have a look at as part of your deliberations. So that has all been an important part of the program.
ELSI was founded in part because of the very difficult history that connects genetics and medicine, and particularly the eugenics effort which was not, as many in the public assumed, something that arose out of Nazi Germany but really arose primarily in the United States with the work of Charles Davenport and others, the science of improvement of the human race by better breeding, something that all now causes us to cringe.
ELSI was established as an integral part of the Genome Project in 1990. It’s about three to five percent of the annual budget of the Genome Project. It remains vigorously active. One of the major investments by ELSI now is in the Centers of Excellence in ELSI Research, six of them that you see listed here, which involve interdisciplinary effort by multiple investigators focused on specific themes.”
“First of all, although it may seem like a tired topic, and I’m not sure whether it is an appropriate one for this body to wrestle with, let’s be clear. Genetic discrimination, while we have made great headway, is not something that is completely over.”
“And then other available methods. Personality prediction or profiling. Again, something that might be used in making decisions about who gets access to which particular kinds of jobs or in the military. Or also it could be used in courts of law.
Neuromarketing, a little scary concept there, trying to assess when people are responding effectively to certain kinds of advertising or branding, or even whose got the brain that is going to be most susceptible to a particular kind of manipulation.
The fascinating area of exploring spirituality and what happens in a PET scan or fMRI scan when someone is having a transcendental experience and what does that mean in a philosophical way about what those experiences are all about. More here, I think, of a philosophical/theological set of questions than perhaps a forensic one.”
“Thank you so much for your presentation and the perspective you bring on both of these.
I would like to probe you a little further on these two sets of ethical issues, Francis, one from neuroimaging and one for genetics. You pointed out a little bit of overlap between the two. In neuroimaging you said, of course, the incidental findings would be an area of overlap. You also mentioned the prediction of future disease risk would be something we would find common to both technologies.
You didn’t imagine, however, that personality prediction might be. I wonder also if another category that you just started to touch on, the age issue, the children — the impact and the ethics of — well, you just mentioned preconception and prenatal counseling on the genetic side, but also the issue of early imaging of children and the degree to which those sorts of findings might become self-fulfilling prophecies. What I’m really looking for, do you see a lot of overlap between these two?”
“I think you’ve just mentioned two important ones that I didn’t touch on explicitly. Certainly behavior. The ability of genetic factors to influence behavior whether you’re talking about depression or the ability to be a risk taker is an active area and there probably will be some findings that hold up over time, although this is obviously a challenging one to be sure that you are able to replicate results. Similarly a great area of interest in neuroimaging in terms of being able to make those predictions about who is more impulsive.
You rightly bring up the issue about early testing of children prior to the age of majority which in general in genetics we have discouraged unless there is an action required. We would like to preserve for individuals the opportunity not to know if that would be their decision once they became adults. I suspect many of those same arguments would play out in neuroimaging unless, again, there was a reason that the information could be valuable in terms of improving the outcome for that child. Those two also fit.
I do think you’re going to have an interesting time trying to figure out whether all these points of contact are sufficient to allow you to take on both of these areas which inherently have intense complexities unto themselves.”
“I want to follow up on Amy Gutmann’s question. It seems to me there is a conflict of values here with regard to access to all this genetic information by people out there in the market place.
On the one hand, it seems to me that experts — the more expert you get, often the more wary you are of information being given to people. In my experience experts in genetics don’t believe that more information is always better. On the other hand, you’ve got this sort of free market libertarian sensibility that it’s my body, it’s my stuff, and I should have access to it. Right?
You talked about the need for education. I’m just sort of wondering without knowing a whole lot about this whether there is room for regulation as well. What do we do with all this information that is floating around out there, a lot of which may be useless or even harmful?”
“Well, yes. It’s something we all worry about a lot, and should. Certainly what one would not want to have are direct-to-consumer efforts that market genetic tests that are actually scientifically invalid.
At a minimum the test ought to have been proven to be clinically valid, that it actually makes a prediction, even a weak one, for which there is unquestioned scientific evidence. In that regard if there are such efforts out there that are actually taking consumers’ money and giving them information that is incorrect, that’s a bad thing.
Regulation sort of rears its head at that point. The FDA after considering this whole question about laboratory based so-called home brew genetic tests for a decade is now engaged in moving in on this in a more active way.
One role that NIH has taken on is the establishment of a genetic testing registry which will be up and going by next fall which will be voluntary but which will encourage responsible companies to deposit in a standard format the information about a genetic test that they offer including what is the scientific evidence that this test actually makes a prediction that is clinically validated.
That, I think, will be a useful clearinghouse put together in a form that is user friendly for consumers to be able to go through it so at least you can find out what is the foundation of a particular claim before you decide whether to sign up or not.
My own personal view is that it’s hard to take a stance of being paternalistic here and saying, “There, there. It would be bad for you to have this information about yourself because I, the scientist [or physician] have decided that it’s just not something you can handle.” That doesn’t quite feel right.
But I do think we have responsibility as a society, and the government is part of that, to make sure that information is not being offered to people that’s actually bogus just as we do in other ways. That would be, I think, a more light touch way to approach the whole question of regulation but a touch that is needed.”